Neonates Flashcards
T/F
Epstein’s pearls are superficial white keratin cysts on the palate seen in 80% of neonates
True
Esp along alveolar ridges and/or junction of hard and soft palates
resolve in weeks
T/F
The stratum corneum of a term neonate is not intact so high risk of systemic absorption
False
startum corneum is intact
but do have high risk of systemic absorption of topicals
o Inc SA to vol ratio
o Often occlusive conditions eg)under nappy
o High ambient temps and humidity
T/F
Preterm infants have reduced skin barrier esp if less than 37 weeks
False
reduced if inder 34 weeks
The more prem the infant the more cutaneous absorption there will be
T/F
Skin barrier function in preterm neonates will become normal in 2-3 weeks after delivery
True
regardless of gestational age
T/F
Prem neonates have greatly increased transepidermal waterloss (TEWL)
True
T/F
topical antiseptics can be damaging in neonates
True
Be very cautious applying anything to skin of neonates esp prems
alcohols – can cause ‘chemical burns’ necrosis and toxicity
caution with antiseptics and steroids
T/F
Petrolatum based emollients in prems reduces TEWL but increases risk of staph and nosocomial infections
True
T/F
High TEWL in prem can cause evaporative heat loss which exceeds babies resting heat production
True
T/F
The warm humid environment provided for prems reduced TEWL and heat loss but increases infection risk and slows the rate at which the skin attains normal barrier function
True
T/F
All eccrine sweat glands are present and functional by 28 weeks gestation
False
present by 28 weeks but not fully functional until 36th week
T/F
Preterm neonates develop normal neonatal sweating when they reach 36 weeks (adjusted)
False
develop normal neonatal sweating within 2 weeks of birth
T/F
Babies sweat mainly from the groin which helps with heat loss there
False
Babies sweat mainly from forehead in response to thermal stimuli but its ineffective for heat loss
Babies sweat from palm and soles in response to emotional stress
T/F
Babies sweat from the face in response to emotional stress
False
Babies sweat from palm and soles in response to emotional stress
T/F
Secretions from sebaceous glands contribute to vernix caseosa
True
T/F
Sebaceous glands are more active in neonates than any other time until puberty due to maternal androgens
True
T/F
Neonatal sebaceous gland activity rduced after the first 5 months of life
False
Activity reduces from end of first month to stable level by end of first year
T/F
The Vernix caseosa is formed at 28 weeks gestation
False
24 weeks
T/F
The Vernix caseosa contains: lipids, antimicrobial peptides, lysozyme
True
T/F
The Vernix caseosa is green in post term neonates
False
Golden yellow if post term or haemolytic disease of newborn
Can be stained green by bile pigment in meconium eg)foetal distress
T/F
The Vernix caseosa begins to dry and flake off in a few days
False
within a few hours it begins
T/F
Acrocyanosis is a concerning sign in a neonate
False
Normal in newborn esp if full term, lasts for first 48hours
Seen on palms, soles and around mouth (tongue is red as no central cyanosis)
Worse if hypothermic, better with warming
T/F
Erythema neonatorum is a normal response in neonates which fades after 2 weeks
False
Normal finding of striking hyperaemia, generalized, develops in first few hours after birth
Fades in 1-2 days
T/F
Harlequin colour change affects 15% of neonates during first week when lying on one side
True
May be one or multiple episodes lasting up to 20mins
T/F
If Harlequin colour change lasts more than one week look for CVS abnormalities
False
Usually fades after one week but can be normal up to 4 weeks
Look for CVS anomalies if it persists after 4 weeks
T/F
Cutis marmorata is normal until the end of the first year
True
affects about 50% of infants
T/F
Cutis marmorata is associated with vascular malformations
False
cutis marmorata telangiectatica congenita can be
In which conditions is persistant cutis marmorata a feature?
Down's Edward's Cornelia de Lange Congenital hypothyroidism Neonatal lupus Divry-Van Bogaert syndrome Homocystinuria
T/F
Neonatal Superficial desquamation (physiological scaling of newborn) occurs in 15% of neonates
False
Up to 75%
Can be term, post term or prem
worse if small for dates whatever the gestational age
T/F
Neonatal Superficial desquamation (physiological scaling of newborn) Starts on hands on 2nd day of life
False
Starts on ankles on 1st day of life
Usually just hands and feet but can become widespread over first week
Widespread scaling can be normal in first days of life due to Neonatal Superficial desquamation (physiological scaling of newborn) but which other conditions should be considered?
icthyosis vulgaris
X-linked hypohidrotic ectodermal dysplasia
T/F
Sucking blisters affects 1 in 250 newborns
True
T/F
Sucking blisters are usually a solitary shallow erosion of 5-15mm on fingers/hand/wrist/forearm/lips
True
but can be 2 or rarely 3
T/F
A term neonate is born with their second coat of lanugo hair in situ
True
First coat shed and replaced by second shoerter coat about 1 month before term
Prem neonate may still have first coat
T/F
Foetus sheds all scalp hair in 7th month of gestation
False
5th month
T/F
The occiput enters anagen at term
True
Causes ‘neonatal occipital alopecia’
T/F
From about 25 weeks (12 wks pre term) the new scalp hair goes through a wave of telogen from front to back followed by anagen regrowth from back to front
False
Both telogen loss and regrowth occur from front to back
T/F
A full head of hair is usually established by 6 months of age
True
joins with lateral edges of eyebrows but these joining hairs turn to vellus hairs over 2nd 6 months of life
T/F
Milk spots are derived from sebaceous glands
True
sebaceous hyperplasia due to influence of maternal androgens
T/F
Milk spots are pinpoint yellow papules common on the nose, cheeks, upper lip and forehead
+/- upper trunk esp periareolar, limbs and genitalia
True
resolve in few weeks
T/F
Infants can have milia at the same sites as milk spots
True
usually also resolve in a few weeks
T/F
Milk spots are milia
False
different but can look similar and occur in same sites
T/F
Pearl’s are large single milia seen on the areolae or genitals in infants
True
What are Bohn’s nodules?
Small whitish cysts on the gums or peripheral palate of neonates
may be formed from salivary gland structures but aetiology unknown
resolve within few weeks
T/F
Extensive/persistent milia may be feature of;
orofacial-digital syndrome type 1
Marie-Unna type congenital hypertrichosis
Bazex-Dupre-Christol syndrome
True
T/F
Mammary gland hypertrophy and lactation can be seen in neonates of both sexes in first few days of life
True
T/F
In female neonates the hyperplastic epithelium of female genital tract desquamates over first few days as creamy white discharge – may be several days of frank bleeding from uterus
True
T/F
Most term neonates have a pigmented lina alba
False
8% only
resolves over 2-3 months
T/F
Mongolian spots occur in >50% of oriental babies
True
85%
T/F
Mongolian spots occur in 3% of caucasian babies
True
T/F
Hyperpigmentation of scrotum is common in oriental baby boys
True
30%
T/F
Oral mucosa of neonates may have whitish hue
True
‘leukedema’ or ‘suckling pads’
May also be; alveolar lymphangioma, ankyloglossia, commissural lip splits, median alveolar notch
T/F
Vernix may be absent in prem neonates
True
T/F
‘Mini puberty’ features are less pronounced in prem neonates
True
T/F
Skin of prem neonates may have translucent, gelatinous quality
True
T/F
Premm neonates have a lack of subcutaneous fat – baby looks thin and wrinkled
False
this is more afeature of IUGR
T/F
A post mature baby (born >42 weeks) resembles an IUGR baby
True
Postmature neonate is larger but often looks similar to IUGR as it too has become malnourished by outstripping supply from the placenta
T/F
A post mature baby often does not have a vernix
True
and if present is often golden coloured
T/F
In IUGR neonates skin dries quickly after birth leaving long transverse splits on trunk
True
This layer peels off to reval more skin udnerneath
T/F
An IUGR neonate at term is under 2.5kg
True
T/F
Erythema Toxicum Neonatorum is a common benign vesiculopustular eruption of neonate
True
T/F
Erythema Toxicum Neonatorum is present at birth
False
Onset 24-48 hrs post delivery
T/F
Erythema Toxicum Neonatorum begins on the face then generalises
True
T/F
Erythema Toxicum Neonatorum waxes and wanes with individual lesions only lasting 24 hrs
True
T/F
Erythema Toxicum Neonatorum is composed of bite-like papules, pustules or vesicles, wheals and associated blotchy erythematous macules
True
T/F
Erythema Toxicum Neonatorum lesions may be induced by rubbing
True
T/F
Erythema Toxicum Neonatorum involves the face, palms and soles
False
begins on face but spares palms and soles
T/F
The histology of Erythema Toxicum Neonatorum closely resembles Infantile eosinophilic pustular folliculitis
True
Eos infiltrate outer root sheath of follicles
Coalescing subcorneal pustules full of eos in perifollicular regions
NB Infantile eosinophilic pustular folliculitis doesnt affect neonates - scalp only, crops of lesions which crust and recur, starts in middle infancy
T/F
Microscopy of a pustule of Erythema Toxicum Neonatorum is helpful in the diagnosis? (what are the findings?)
True
Will show many eosinophils
Giemsa or Wright’s stain on smear
(>90% of the inflammatory cells on histo are eos)
T/F
In Erythema Toxicum Neonatorum eosinophils can make up to 10% of the WCC
False
up to 20%
What are the important DDs of Erythema Toxicum Neonatorum?
Most important not to miss HSV/VZV/Staph/Malassezia/ congenital candidiasis
Can do swabs for smear + MC&S + PCR
Others include;
o Transient neonatal pustular melanosis (dark skin, resolves with pigmented macules)
o Neonatal cephalic psutulosis
o Neonatal acne
o (pustular) Miliaria rubra (head, neck, torso, longer lasting)
Which condition is most commonly blamed when ETN is misdiagnosed?
(pustular) Miliaria rubra
skin folds, head, neck, chest, occluded sites; longer lasting than ETN
T/F
Erythema Toxicum Neonatorum resolves spontaneously after a few days
True
But can recur in first few weeks of life
T/F
Transient neonatal pustular melanosis is commonly sen in Australia
False
Most recognised in African-Americans
T/F
Transient neonatal pustular melanosis affects 10-20% of dark skinned neonates
False
5%
0.5% of Caucasians
T/F
The lesions of Transient neonatal pustular melanosis are usually present at birth
True
or arise shortly afterwards
T/F
Transient neonatal pustular melanosis presents with flaccid superficial pustules 1-3mm without erythema
On forehead, chin, neck, back, shins and bottom or sometimes elsewhere
True
What is the natural history of Transient neonatal pustular melanosis?
Ruptured pustules leave a brown crust that becomes a pigmented macule with a collarette of scale – these macules may be already present at birth i.e. blistering stage has passed in utero
Blisters settle in days but pigmented macules can take months to resolve
T/F
lentigines neonatorum affects 15% of black neonates
True
may be the macular stage of Transient neonatal pustular melanosis so this entity may be more common than thought
T/F
Histo of Transient neonatal pustular melanosis shows a subepidermal blister and many eos
False
subcorneal or intraepidermal blister and many neuts with some eos - infiltrate in blister, little in dermis
What are the DDs for neonatal pustular eruptions?
Bacterial infections • Staphylococcal • Group A or B streptococcal • Listeria monocytogenes • Haemophilus influenzae • Pseudomonas Viral infections • Neonatal HSV; Intrauterine HSV • Neonatal varicella • Herpes zoster Fungal infections • Congenital candidiasis; Neonatal candidiasis • Aspergillus infection in premature infants Infestations • Scabies
Non-infective (common) • Erythema toxicum neonatorum • Transient neonatal pustular melanosis • Miliaria - crystalline and rubra • Neonatal cephalic pustulosis • neonatal acne
Non-infective (uncommon & rare) • Acropustulosis of infancy • Eosinophilic pustular folliculitis • Incontinentia pigmenti • Hyperimmunoglobulin E syndrome • Pustular psoriasis • Congenital Langerhans cell histiocytosis
T/F
Erythema Toxicum Neonatorum is uncommon in prem neonates
True
also rare in IUGR
T/F
Erythema Toxicum Neonatorum affects 50-70% of term neonates
True
T/F
TCS are used to treat Transient neonatal pustular melanosis
False
No treatment required
T/F
Palms and soles are not involved in Transient neonatal pustular melanosis
False
may be involved
Cf ETN - spares palms and soles
T/F
Miliaria affects 50% of neonates in warm climates
False
15%
T/F
Both miliaria rubra and crystallina can appear pustular clinically
True
T/F
Miliaria Profunda is very rare in infants
True
T/F
Miliaria crystalina usually begins at end of first week or second week of life
True
but can be present at birth
T/F
Miliaria rubra classically looks like a dew drop in a rose petal
False
this is the classical description of varicella
miliaria crystallina look like dew drops
Rubra are red papules and papulovesicles 1-4mm
Which sites are affected by miliaria crystallina? and miliaria rubra
miliaria crystallina
- Forehead, neck, upper trunk
- other occluded sites
miliaria rubra
- Flexures, groins, axillae mostly
- Can be Forehead, neck, upper trunk and scalp
- other occluded sites
T/F
Miliaria crystalina is composed of small flaccid vesicles 1-2mm
True
‘dew drops’
T/F
Miliaria rubra has an inflammatory compenent not seen in miliaria crystallina
True
because deeper leakage of sweat causes inflammatory response
Miliaria crystalina is composed of small flaccid vesicles 1-2mm
Rubra are red papules and papulovesicles 1-4mm, can be some true pustules (miliaria pustulosa)
T/F
Miliaria pustulosa are secondarily infected pustules arising in miliaria rubra
False
Miliaria pustulosa are sterile pustules to inflammation
Infected miliaria is called periporitis
T/F
Miliaria rubra has a later onset than miliaria crystallina
True
rarely seen before 1st week of life
How may miliaria rubra and ETN be distinguished?
Onset - ETN in first 48hrs, MR in second week
Sites - ETN starts on face and generalises, MR mainly skin folds also forehead, neck, upper trunk and scalp
and other occluded sites
MR very unlikely in cool climate unless babies room overheated and humidified
Both resolve in days - MR resolves more quickly if cooling measures used, otherwise lasts longer than ETN
Both can recur in first few weeks
T/F
Miliaria in infants resolves in a few days if cooling measures used
True
consider; incubator, swaddling, fever, occlusive dressings, plastic mattress covers, plastic nappies etc
What is peroporitis staphylogenes?
Miliaria with secondary staph infection
Can be hard to distinguish from sterile miliaria pustulosa
sweat gland abscesses are the same as faruncles
False
different to faruncles and other abscesses
non-tender, cold and don’t point
T/F
Neonatal cephalic pustulosis is usually due to pityrosporum
True
T/F
Neonatal cephalic pustulosis starts in the first 3 wks of life
True
T/F
Neonatal cephalic pustulosis has comedones
False
usually no comedones
If comedones present think of true neonatal acne - presents later and has longer time course
T/F
Neonatal cephalic pustulosis affects the face, scalp and chest and does not generalise
True
T/F
In Neonatal cephalic pustulosis a Giemsa stained smear show numerous neuts
False
Can show neuts of other inflammatory cells or yeasts forms but not heavily neutrophilic
T/F
Neonatal cephalic pustulosis affects up to one in 5 newborns
True
20%
T/F
Topical steroids and terbinafine are the treatment of choice in Neonatal cephalic pustulosis
False
use topical imidazole antifungal cream
eg) bifonazole, miconazole
resolves in few weeks
T/F
Neonatal acne starts at 3-6 months of age and lasts a few months
True
similar Rx to teen acne
T/F
Infantile acropustulosis is in the rare non-infective group of causes of neonatal pustulosis
True Non-infective (uncommon & rare); • Acropustulosis of infancy • Eosinophilic pustular folliculitis • Incontinentia pigmenti • Hyperimmunoglobulin E syndrome • Pustular psoriasis • Congenital Langerhans cell histiocytosis
T/F
Infantile acropustulosis can be present at birth
True
But usually onset in first 6 months or up to one year
T/F
Infantile acropustulosis is most common in caucasian babies
False
most common in dark skinned male babies
T/F
Infantile acropustulosis presents with recurrent crops of itchy vesicles/pustules on soles of feet & palms of hands
True
T/F
Infantile acropustulosis cannot affect the dorsal hands or feet
False
Can affect dorsal hands, feet, fingers, wrists, ankles or forearms
Sometimes face, scalp and trunk but mainly acral dist
T/F
Infantile acropustulosis is asymptomatic
False
Very itchy – can cause restlessness and sleep dist
Describe the natural Hx of infantile acropustulosis
onset in first 6 months or up to one year
Start as tiny red papules evolve into vesicles then pustules over 24 hrs
Crops last 1-2 weeks
recur every 2-4 weeks
Post inflammatory hyperpigmented macules often remain
gradually resolves over about 2 years
worse in Summer
T/F
Infantile acropustulosis can cause mucosal lesions
False
T/F
Infantile acropustulosis can follow successful scabies treatment
True
and scabies is a DD
T/F
Infantile acropustulosis may cause an eosinophilia but is not highly eosinophilic on histo
True
Histo shows neutrophilic pustle and sparse perivascular lymphohistiocytic infiltrate
Swabs are sterile
Smear shows neuts or sometimes eos with giemsa/Wrights
May be peripheral eosinophilia
What is the treatment of Infantile acropustulosis?
Potent TCS started early in the evolution of a new crop
antihistamines for itch/sleep
2nd line Rx dapsone
T/F
Miiaria rubra is the same as prickly heat
True
T/F
Eosinophilic pustular folliculitis (of Ofuji) is arare slef limiting cause of pustules in infancy characterised by skin and peripheral eosinophilia
True
Histo, smear of vescle and blood all show eos++
T/F
Eosinophilic pustular folliculitis (of Ofuji) mainly causes psutules on the scalp but can be anywhere
True
Lesions smainly on scalp
cyclical recurrences of uncertain duration in well child
T/F
Eosinophilic pustular folliculitis (of Ofuji) is persistant and has no known treatment
False
self limiting but can take 3-5 years
- cf cephalic pustulosis settles in weeks-months
can use potent TCS and oral erythromycin
T/F
Hand-Schuller-Christian disease is a congenital type of Langerhan’s histiocytosis
False
onset usually after age 2
What are the two congenital type of Langerhan’s cell histiocytosis?
Letterer-Siwe disease
Congenital self-healing reticulohistiocytosis (Hashimoto-Pritzker disease)
T/F
Congenital self-healing reticulohistiocytosis resolves spontaneously in 1-3 years
False
resolves in few weeks
T/F
Letterer-Siwe disease can present in infancy
True
at birth or in first 2 years
T/F
Letterer-Siwe disease type of Langerhan’s cell histiocytosis can present with papules and pustules in the flexures resembling napkin rash
True
Small pink to skin-coloured papules, pustules, vesicles in scalp, flexural areas of neck, axilla, and perineum, and on trunk
Look for oral and anogenital lesions and enlarged LNs, liver and spleen
DDx: seb derm, ‘nappy rash’, intertrigo, arthropod bites, varicella
T/F
Letterer-Siwe disease type of Langerhan’s cell histiocytosis is a severe form wich commonly involves Lung, liver, LN, and bones
True
T/F
Foetal scalp blood sample sites can get abscess, osteomyelitis, nec fasc, meningoencephalitis
True
T/F
Phototherapy for neonatal jaundice can cause a macular erythematous rash
True
T/F
Phototherapy for neonatal jaundice can cause hypopigmentation in dark skinned infants
False
hyperpigmenattion - can last months
T/F
Phototherapy for neonatal jaundice can cause photodrug eruptions
True
esp frusemide or methylene blue injected into amniotic cavity to detect prem rupture of membranes
What is Bronze baby syndrome ?
Rare complication of phototherapy in infants with liver disease
Pigmentation of skin, serum and urine with unknown brown pigment
High levels of copper and porphyrins
Pigmentation persists after phototherapy but gradually fades
What is carbon baby syndrome?
‘Acquired universal melanosis’
V rare, increased melanin production and pigmentation of skin over first few years of life
Cause unknown
What is grey baby syndrome?
Chloramphenicol toxicity in an infant who is unable to metabolise high doses of the drug
Infant is cyanosed, is acidotic, has cold peripheries and has the signs of all of marked hypotonia, poor feeding, vomiting, loose stools and a distended abdomen
What is blue baby syndrome?
Rarely used term
Refers to central cyanosis most often due to congenital heart disease
Iatrogenic dystrophic calcification (calcinosis cutis) can occur at which typical sites in neonates
Heel prick blood samples (Guthrie test)
From IM injection or extravasation of calcium containing products
Scalp post EEG using calcium-chloride paste for electrodes on broken skin
T/F
IgM antibodies cross the placenta more easily than other Ab classes
False
IgG most easily - transfers maternal AI disease as well as immunity
T/F
Maternal IgG is broken down in first 3-6 months of life
True
Diseases due to transplacental transfer of maternal autoAbs resolve in that time period
T/F
Maternal complement crosses the placenta
False
Complement cannot cross placenta.
If involved in disease pathogenesis it comes from the foetus.
Made from week 11 of gestation
T/F
Neonatal lupus is more common than neonatal pemphigus vulgaris or neonatal pemphigoid gestationis
True
T/F
Neonatal lupus is due to transplacental transfer of ANA Abs
False
Due to Ro (SSA), La (SSB) or U1-RNP
All IgG
But ANA may be detected
T/F
Anti-Ro Abs are responsible for 50% of cases of Neonatal lupus
False
In 95% of cases they are IgG1 anti-Ro Abs
T/F
Extracutaneous features occur in >60% of cases of Neonatal lupus
True
cardiac>liver>low platelets
Cardiac by far most common
T/F
Cardiac involvement is a feature in up to 60% of cases of Neonatal lupus
True
T/F
Temporary type 2 heart block is the most common cardiac feature of Neonatal lupus
False
Heart block is permanent due to fibrosis of conducting system
Often complete heart block
T/F
50% of cases of cardiac involvement in Neonatal lupus require a permanent pacemaker
True
T/F
Heart block in cases of Neonatal lupus most often develops 1-2 weeks after birth
False
Heart block usually present from birth, rarely develops later
T/F
Death from cardiac involvement of Neonatal lupus occurs in
False
20% mortality
T/F
Cardiomyopathy due to heart block of Neonatal lupus occurs in a small percentage of cases
True
Presents early - Cardiomyopathy usually apparent in neonatal period, rarely presents later
List the complications of neonatal lupus
Cardiac - heart block, sometimes myopathy Liver hepatomegally Low platelets autoimmune haemolytic anaemia splenomegally lymphadenopathy pneumonitis o Usually all quite mild and resolve quickly
When do complications of neonatal lupus occur?
May be present at birth or develop in first few months
Hepatobiliary disease can present as liver failure during gestation or with jaundice or raised LFTs in first few weeks or months
T/F
UV light is necessary to induce the skin lesions of Neonatal lupus
False
skin lesions are present at birth in 2 thirds of affected infants
T/F
Skin lesions of neonatal lupus resemble SCLE and often occur on face esp ‘spectacle distribution’ around eyes and temples, may be also scalp, neck, chest, back, limbs
True
Erythematous macular or annular with some atrophy and fine scale
but can be annular erythema with no epidermal change or subcut lesions or extensive reticulate erythema with atrophy resembling CMTC
Very rarely can be lesions resembling dermal erythropoiesis (bluberry muffin baby appearance)
T/F
Infants with Neonatal lupus skin lesions are rarely photosensitive
False
often photosensitive - protect from sun
T/F
Most mothers of infants with Neonatal lupus are asymptomatic
True
60% are asymptomatic
40% have an associated condition
Which maternal conditions are linked to neonatal lupus?
SLE, SCLE
sicca syndrome
leukocytoclastic vasculitis - about 5%
T/F
Skin lesions of neonatal lupus resolve in 3-6 months but often scar
False
usually resolve without scarring within 1 st year
can leave telys and dyspigmentation which can persist for months
Atrophy is rare
T/F
Systemic features of neonatal lupus other than heart block usually resolve in first year of life
True
What are the investigations for neonatal lupus?
Child
ECG!!!!!!! +/- echo
FBC
ELFT
ANA, ENA, Antiphospholipid Abs, C3, C4 (testing for Abs in mum is more important)
USS abdo
Biopsy essential to confirm - same as adult LE but DIF only +ve in 50% - DEJ & perivascular IgG, IgM and C3 (lupus band)
Mum
Hx and examination
ANA, ENA, dsDNA, RF, Antiphospholipid Abs, C3, C4
Schirmers test
What is the risk in a subsequnt pregnancy for a mum who has had a child with neonatal lupus?
25% risk of another affected child
T/F
Increased risk of miscarriage or stillbirth in subsequent pregnancy after Neonatal LE pregnancy
False
But mothers with Ro antibodies have inc risk of these regardless of clinical AI disease diagnosis or previous offspring
T/F
Mothers with SLE have increased risk of miscarriage or stillbirth
False
women with Ro Abs do
T/F
Mother with known Ro, La or U1-RNP should have close monitoring during pregnancy to detect foetal bradycardia – may need high dose systemic steroids if signs of foetal heart failure
True
What are DDs for neonatal lupus skin lesions?
Congenital rubella, CMV or syphilis
Can resemble blueberry muffin baby
Can resemble CMTC
T/F
Topical steroids are mainstay of skin Rx in neonatal lupus
False
strict sun protection only for skin
TCS not neded
T/F
Neonatal Pemphigus vulgaris is due to drugs given to infant immedietely after birth
False
due to transplacental transfer of Abs from affected mother - very rare as few affected women get pregnant
NB maternal disease may be mild or unrecognised
T/F
Neonatal (foetal) Pemphigus vulgaris can result in stillbirth
True
T/F
Neonatal Pemphigus vulgaris resolves in weeks without treatment
True
T/F
Neonatal Pemphigus vulgaris presents wih skin and/or mucosal erosions or bullae
True
T/F
All infants of mothers with Pemphigoid gestationis have Positive serology
True
maternal IgG antiBM Abs
DIF and serology negative by end of 1st month
T/F
All infants of mothers with Pemphigoid gestationis get skin lesions
False
Only 10% do
Lesions may be present at birth or appear on days 1-3 of life
Lesions may be urticated papules or full bullae, can be extensive
T/F
Infants of mothers with Pemphigoid gestationis are at risk of prematurity and low birth weight
True
Also adrenals may be underactive if mum had a lot of steroid
T/F
keratolytics or selenium shampoos are good for seb derm in neonates
False
Dont use these
Use olive oil or arachis oil or rub in emulsifying ung or Aq cream and leave for a while before washing off
T/F
Congenital cradle cap is retained vernix caseosa
True
T/F
Infantile seb derm resembles adult seb derm
False
Does not really resemble adult seb derm in any way and does not affect the classical areas
T/F
M. furfur is commonly found in infants with seb derm
False
V rare
T/F
Infantile seb derm onset is after first week of life
True
usually week 2-8 but anywhere up to age 6/12
T/F
Infantile seb derm is more itchy than eczema
False
mildly pruritic only
Infant is usually well with normal feeding and sleep
T/F
Infantile seb derm mainly affects the face and scalp and nappy area
True
Usually starts in one or both of these areas
can spread to other sites - trunk, prox limbs
T/F
Vesicles are a feature of Infantile seb derm
True
Lesions are small round/oval areas of erythema with vesicles which coalesce to form patterns and develop yellow adherent scale
What are the favoured sites of Infantile seb derm?
Vertex and anterior fontanelle areas of scalp
Postauricular areas
On face favours forehead, eyebrows and lids and nasolabial folds
Nappy area
Intertriginous folds of neck, axillae and groin can be very red and inflamed
favours umbilicus on trunk
What are the main differentials of Infantile seb derm?
Disseminated primary napkin dermatitis Infantile Atopic dermatitis o AD is more itchy but this cannot distinguish o AD unusual in napkin area, more on face, neck Others; o Intertrigo o Infantile psoriasis o Zinc deficiency o Hyper-IgE syndrome o Langerhans cell histiocytosis o Multiple carboxylase deficiency o Immunodeficiencies inc HIV
T/F
50% of infants with Infantile seb derm develop adult seb derm
False
no figure for this
T/F
50% of infants with Infantile seb derm develop psoriasis in later life
False
25%
T/F
25% of infants with Infantile seb derm develop atopic dermatitis in later life
True
T/F
Infantile seb derm resolves when child reaches 6 months of age and sebum production stops
False
Usually resolves in a few weeks even without Rx
seb derm does not develop in children after 6 months
T/F
Changes to diet can be useful in Infantile seb derm
False
NO evidence for biotin or essential fatty acids or other diet changes
Should enquire about nutrition as matter of course and to consider Zinc deficiency in DDs
T/F
Secondary skin infection does not occur in Infantile seb derm
False
Can get secondary candida or staph infection
If resistant to Rx after a few weeks and no infection should rethink the diagnosis
What is the management of infantile seb derm?
Genral measures and napkin area cares
soap-free wash or emollient in bath once/twice a day
regular emollient
2% ketoconazole cream applied BD after bathing for 10-14 days
Use Nizoral shampoo on scalp
Can use TCS if necessary
Usually avoid: sal acid, keratolytics, selenium sulfide
T/F
Contact dermatitis most often presnets in napkin or perianal regions in infants
True
T/F
True allergic contact dermatitis is rare in newborns as immune system not fully developed and have minimal exposure to allergens
True
but can occur esp after neonatal period
T/F
Perianal dermatitis of the newborn presnts in first 8 days of life
True
resolves in 2 months
Must wash immedietly after poos with soap-free wash and apply WSP
T/F
Perianal dermatitis of the newborn affects 5-20% of neonates
True
T/F
Perianal dermatitis of the newborn is more common in breast fed babies
False
bottle fed more common
T/F
Perianal dermatitis of the newborn can co-exist with napkin dermatitis or seb derm
True
T/F
Pain or bleeding on passing motions in neonate is suspicous for a congenital anomaly of anal papillae
True
T/F
Primary napkin dermatitis is an irritant contact dermatitis of the nappy area
True
T/F
Primary napkin dermatitis affects 50% of infants
True
• M=F, all races
T/F
Primary napkin dermatitis rarely presents before 3 weeks of age
True
presents after 3 weeks
most affected babies are in 2nd 6/12 of life
T/F
Primary napkin dermatitis causes erythema of convexities of inner thighs, buttocks, genitals and lower abdo/pubic area with deeper groin and other flexures spared
True
T/F
The groin creases are involved in Primary napkin dermatitis
False
spared
T/F
‘Tidemark dermatitis’ is when Primary napkin dermatitis reaches the edges of the nappy area
True
if nappy very occlusive or edges chafe skin
T/F
bilateral rash under the sticky tab area of the disposable nappies is usually due to allergic contact dermatitis
False
usually still irritant but can be allergy to plastic(rubber) or glue
T/F
Primary napkin dermatitis cannot spread beyond the nappy area
False
If not tretaed can spread further
Also rash may become generalised/disseminated;
– nummular lesions on trunk and erythrosquamous plaques in axillae and on neck
T/F
Primary napkin dermatitis can cause post inflam hypo-pigmentation common in dark skinned infants
True
can occur at distant site if rash disseminated
What are the variants of primary napkin dermatitis?
Infantile gluteal granulomas
Herpetiform napkin dermatitis - Rare variant with vesicles and pustules turning into erosion; Clinically resembles HSV but no pathological evidence of infection
Jacqet’s Dermatitis - rare erosive form with vesicles and erosions with raised edges
What are the DDs of primary napkin dermatitis?
Neonatal candidiasis
Napkin candidiasis - involves creases, scalloped edges, satellite lesions
Napkin psoriasis - Edges well defined, Prominent adherent or mica-like scale, later may develop Pso
Seb derm
Atopic derm very unusual in napkin area and rare before 3 months of age
Staph scalded skin – first phase often looks limited to napkin areas
Congenital syphilis – red/brown macules on extremities inc palm and soles and face and nappy area which may be bullous or erosive, flexural condylomas, hepatosplenomegally, rhinitis, low birth weight
Zinc defic - perioral facial dermatitis, erosions in palmar creases and erosive paronychia. Often prem, nappy rash fails to respond to Rx, normal serum Zinc does not exclude the diagnosis
Dermatophyte/tinea incognito
Primary HSV infection – rare ??abuse
Unusual infections in napkin area may occur in primary or acquired immunodeficiency
Langerhans cell histiocytosis – commonly presents with intertrigo in infants of 2-3 months, usually also affects scalp esp retroauricular area
Multiple carboxylase deficiency – rare, usually rash starts on face
What are the aetiological factors of primary napkin dermatitis?
Friction occlusion water maceration urine conatct - ammonia foecal contct - pancreatic protease and lipase applied chemicals congenital anomolies
T/F
C. albicans is found in feaces and can trigger normal nappy rash to turn into full blown napkin candidiasis
True
Increased Candida in stool of children given broad spectrum antibiotics
T/F
Formula-fed infants have higher pH in feaces and higher risk of nappy rash
True
T/F
In the pathogenesis of napkin dermatitis, more acidic urine is more irritating
False
more alkali more irritatting
Outline management of primary napkin dermatitis
Careful Hx and exam - exclude DDs
Increase nappy-free time
Highly absorbent disposable nappies with a breathable layer
Change baby immediately after motions
Ideally immediately after urine too
Clean with water and Aq cream and a soft cloth and dry thoroughly
After change apply WSP or 50:50 or Bepanthen or Zinc and castor oil cream BP.
Avoid soap/detergent/alcohol/antiseptics/talc etc and minimise abrasions
Bath baby BD when bad and OD when in remission with bath oil and wash with Aq cream
Use 1% HCT ointment BD after bath
Can use miconazole cream if candida present
Barrier cream if lots of feaces/urine due to diarrhoea or congenital defect
How do you advise parents who insist on using non-disposable terry nappies?
Benzalkonium chloride is best antiseptic to use for nappies prior to laundering
Washing and rinsing must be thorough and get all the antiseptic out
Washable nappies should be machine washed either commercially or if at home with a non-biological detergent and thorough rinse cycle and no softener
Tumble dry to make softer
T/F
Infantile gluteal granulomas (granuloma gluteale infantum) are a rare complication of primary irritant napkin dermatitis
True
esp infants aged 4-9 months
T/F
Infantile gluteal granulomas are only seen in infants with severe nappy rash
False
can be mild or severe and is often improving at time of presentation - most of other rash may be resolved
T/F
Infantile gluteal granulomas comprise one or several uniform, livid purple oval nodules with long axis parallel to skin creases
True
T/F
Infantile gluteal granulomas (granuloma gluteale infantum) most often occur after potent TCS use
True
T/F
Infantile gluteal granulomas heals with scarring over several weeks
True
can be atrophic scarring
T/F
‘Napkin psoriasis’ in the absence of psoriasis elsewhere is essentially a psoriasiform primary irritant napkin dermatitis rather than a true presentation of psoriasis
True
If there is true psoriasis elsewhere the napkin rahs is is actually a koebner phenomenon occurring secondarily due to primary irritant napkin dermatitis
T/F
Napkin psoriasis can occur in infants with seb derm elsewhere
True
Infantile seb derm may or may not be present
Points to napkin psoriasis not to infantile Pso koebnerising primary napkin dermatitis
T/F
Most infants with Napkin psoriasis go on to develop psoriasis in later life
False
increased risk over general population but most dont develop Pso
T/F
Psoriasis can be congenital or can begin in infancy but both are uncommon
True
T/F
In an infant with pre-existing psoriasis elswehere and psoriasiform nappy rash the latter is due to koebner phenomenon occurring secondarily due to primary irritant napkin dermatitis
True
caution needed though as napkin psoriasis can often disseminate - must confirm the chronology of the lesions
T/F
Napkin psoriasis has confluent erythema (extends into creases) with psoriasiform plaque appearance – sharp, scalloped edge and scale
True
Less violaceaus/glazed than normal pso
T/F
Napkin psoriasis frequently disseminates
True
trunk and limbs look the same as perineum, face and scalp have denser scale or crust
T/F
Napkin psoriasis onset at 2 months and lasts 2-4 months
True
What are the causes of panniculitis of the neonate?
SSS Cold Cold Subcutaneous fat necrosis of newborn Sclerema neonatorum post Steroid panniculitis Cold panniculitis Neonatal cold injury
T/F
Vesiculopustular eruption associated with transient myeloproliferative disorder in Down syndrome is a rare presentation of a rare complication of Downs
True
Vesicles and pustules on Face > trunk, extremities; sites of adhesive dressings, minor trauma (pathergy)
Assess for myeloproliferative disorder
Rash resolves as haem disease resolves
T/F
Vesiculopustular eruption associated with transient myeloproliferative disorder in Down syndrome displays pathergy
True
What are the immundeficiencies which can mimic atopic eczema in infants?
WINO Job Wiskott-Aldrich Syndrome IPEX - Immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome Netherton’s Syndrome Omenn syndrome Hyper IgE (Job) syndrome
What are the causes of atrophic lesions in neonates?
MAGIC CLAS Morphoea Aplasia cutis congnita Goltz syndrome (focal dermal hypoplasia) Infections - congenital HSV, VZV Cutis marmorata telangiectatica congenita
Congenital erosive and vesicular dermatosis healing with reticulate supple scarring
Lupus - neonatal
Anetoderma of prematurity
Subcutaneous fat necrosis of the newborn
What are the clinical features of post steroid panniculitis?
Rare complication of systemic steroid Rx in children
Erythematous nodules and indurated plaques develop on the cheeks of children within days or weeks following rapid systemic steroid tapering or cessation
T/F
Post steroid panniculitis most resembles cold panniculitis clinically
True
Both most often occur on cheeks
T/F
Post steroid panniculitis most resembles sclerema neonatorum histologically
False
Most resembles subcutaneous fat necrosis histologically
Both have;
- Lobular panniculitis with a mixed inflammatory infiltrates without vasculitis
- Needle shaped clefts/crystals in fat cells
- Patchy fat necrosis
- FB type granulomatous inflammation
Although subcutaneous fat necrosis can sometimes have a vasculitis
How does the histo of sclerema neonatorum differ from subcutaneous fat necrosis of the newborn?
Both have
Lobular panniculitis
Needle shaped clefts/crystals in fat cells
FB type granulomatous inflammation
But sclerema neonatorum has little or no fat becrosis and minimal inlfammation where SFNN has lots
NB
Post steroid panniculitis is the same as SFNN except post steroid never has vasculiits and SFNN sometimes does
T/F
Subcutaneous fat necrosis of the newborn affects both subcuatneous and visceral fat
True
T/F
Subcutaneous fat necrosis of the newborn has a poor prognosis
False
usually excellent but rare fatalities due to hypercalcaemia or visceral fat necrosis
T/F
Subcutaneous fat necrosis of the newborn mainly affects prem babies
False
Full term or post term more at risk
T/F
Subcutaneous fat necrosis of the newborn usually occurs in the first 3 weeks of life
True
rarely presents at birth or up to 6 weeks
T/F
Subcutaneous fat necrosis of the newborn is due to localised tissue hypoxia and/or cold injury
True
this is the current thinking but cause unknown for sure
T/F
Hypercalcaemia is both a trigger and a complication of Subcutaneous fat necrosis of the newborn
True
What are the triggers/associations of Subcutaneous fat necrosis of the newborn?
Hypercalceamia (25%) – can be asymptomatic Birth asphyxia Obstetric trauma Cocaine/ Calcium channel blocker in pregnancy Thrombocytopenia Pre-eclampsia maternal diabetes IV PgE1 treatment for CHD Brown fat deficiency
NB usually idiopathic
T/F
Subcutaneous fat necrosis of the newborn affects brown fat regions
True
Symmetrical red-blue, rubbery-firm subcut nodules on buttocks, thighs, shoulders, back, cheeks and arms – often over bony prominences
can fuse into plaques
T/F
In subcutaneous fat necrosis of the newborn the infant is usually well
True
What is Anetoderma of prematurity?
Numular areas of atrophy on trunk and/or prox limbs in first few weeks-months in prem infants
Thought to be triggered by interventions in NICU etc
T/F
Congenital erosive and vesicular dermatosis healing with reticulate supple scarring causes extensive superficial erosions with vesicles and bullae covering 75% BSA
True
T/F
Congenital erosive and vesicular dermatosis healing with reticulate supple scarring is a rare condition occuring in post mature neonates
False
very rare but occurs in prems
cause unknown
T/F
Congenital erosive and vesicular dermatosis healing with reticulate supple scarring can be assoc w/ other neuro or physical abnormalities
True
T/F Goltz syndrome (focal dermal hypoplasia) is a rare multisystem disorder mainly affecting females
True
T/F Goltz syndrome (focal dermal hypoplasia) is autosomal recessive
False
X-linked dominant (females affected)
mutation in PORCN gene
T/F
In Goltz syndrome (focal dermal hypoplasia) atrophic skin lesions are thin and linear and follow Blaschko’s lines
True
but can also get areas of aplasia cutis congenita
What are the extra-cutaneous features of Goltz syndrome (focal dermal hypoplasia)?
Eyes - various abnormalities Microcephaly cleft lip/palate hand abnormalities spinal abnormalities Renal tract anomolies GIT malformations congenital heart disease structural CNS malformations Impaired vision and hearing minority have learning difficulties
What are the cutaneous features of Goltz syndrome (focal dermal hypoplasia)?
Linear blaschkoid hypoplastic streaks aplasia cutis congenita fat herniation PPK hyperhidrosis alopecia telys papillomas pyogenic granuloma-like lesions nail abnormalities
What are the associations of Cutis marmorata telangiectatica congenita?
o Capillary malformations
o Body asymmetry or limb hypoplasia
o Macrocephaly
o Neurologic or ocular abnormalities inc glaucoma
o Teeth abnormalities, cleft palate
o Developmental delay
o Hypothyroidism
o Other congenital vascular or pigmented naevi/malformations , such as; café-au-lait macule, mongolion spot (dermal melanocytosis), naevus flammeus, hemangioma, nevus anaemicus, melanocytic nevus, aplasia cutis and acral cyanosis
Or named syndromes;
o Adams-Oliver syndrome
o Type 5 phacomatosis pigmentovascularis (CMTC + Mongolian spot)
o macrocephaly-capillary malformation syndrome
T/F
Cutis marmorata telangiectatica congenita is usually part of a named syndrome?
False
rarely part of a named syndrome
Usually sporadic, rarely familial
T/F
Infants with Subcutaneous fat necrosis of the newborn develop new lesions over a 3 weeks
False
1 week
T/F
Subcutaneous fat necrosis of the newborn can cause sequestration of platelets
True
thrombocytopenia
T/F
Subcutaneous fat necrosis of the newborn resolves completely over several months
True
What blood tests hsould be checked in Subcutaneous fat necrosis of the newborn?
Calcium - hyper
FBC - low plts
BSL - maternal diabetes can affect infant
Must monitor calcium during clinical epsiode + Must repeat calcium every 2 weeks for 3-6 months
T/F
Subcutaneous fat necrosis of the newborn can ulcerate and exude fat
True
T/F
What is the treatment of Subcutaneous fat necrosis of the newborn?
skin no Rx required
Treat hypercalcamia if present eg) frusemide, dietary restriction of Ca and vit D, sometimes oral steroids or bisphosphonates
T/F
Hypercalcaemia occurs in 50% of cases of Subcutaneous fat necrosis of the newborn
False
25%
T/F
Sclerema neonatorum is a common benign condition due to cold
False
rare and serious
mortality 50-75%
T/F
Sclerema neonatorum and cold panniculitis are both partly due to infantile fat being more saturated than fat in older people
True
T/F
Sclerema neonatorum occurs in otherwise well infants
False
usually child is unwell and may have significant infection
T/F
Sclerema neonatorum starts in the first 3 weeks of life
False
onset in 1st week or rarely from birth
NB Subcutaneous fat necrosis of the newborn starts in first 3 weeks
T/F
Prem, low birth weight or IUGR/SGA neonates are at increased risk of Sclerema neonatorum
True
T/F
In Sclerema neonatorum there is woody induration starting on buttocks, thighs and calves which progresses rapidly
True
T/F
In established Sclerema neonatorum there is woody induration of the whole body
False
whole body except palms, soles and genitalia
T/F
In established Sclerema neonatorum the skin cannot be picked up and the child has a mask-like face and reduced limb mobility
True
skin of affected areas is yellow-white, hard and cold with purplish mottling, may be waxy
T/F
In Sclerema neonatorum there is pitting oedema in the skin
False
no pitting on pressure
T/F
In Sclerema neonatorum the septae of the fat are thickened
True
Septae are thickened but it is still a lobular panniculitis with only minor septal invovlement
T/F
Turners syndrome girls have firm non-pitting lymohoedema of dorsal hands and feet
True
Dont confuse with sclerema or other panniculitis
T/F
Treatment of Sclerema neonatorum is mainly to treat the underlying medical condition which has triggered it
True
Repeated exchange transfusions may reduce mortality
T/F
Sclerema neonatorum is associated with >50% mortality
True
50-75%
T/F
After Sclerema neonatorum there is permanent scarring
False
skin returns to normal, no long term complications
T/F
Subcutaneous fat necrosis of the newborn is a type of calcifying panniculitis
True
metastatic calcification
T/F
Cold panniculitis presents as indurrated, warm, red subcut plaques or nodules appear on the skin within hours or days of cold exposure
True
T/F
Infants are particularly predisposed to cold panniculitis due to high levels of unsaturated fat
False
high levels of saturated fat
T/F
applying ice to skin for 50 secs causes panniculitis in all newborns, 40% of 6 month olds etc
True
diminshing amount of saturated fat as child ages so less prone to cold panniculitis
T/F
Cold panniculitis most commonly occurs on hands and feet in neonates
False
cheeks most common but can be any site
T/F
Histo of Cold panniculitis shows deep perivascular lymphohistiocytic infiltrate progressing to cavities of ruptured adipocytes and associated inflammation
True
T/F
Cold panniculitis often resolves with post inflammatory hyperpigmentation
True
No treatment just avoid cold
What is the prognosis of Subcutaneous fat necrosis of the newborn?
Usually excellent
But need to watch out for hypercalcaemia and visceral fat involvement as can be fatal
T/F
Neonatal cold injury is common in developed countries
False
Rare these days but still seen in developing countries
T/F
Neonatal cold injury is a col-induced generalised pitting oedema and not a real panniculitis
True
A presentation of hypothermia mainly
T/F
IUGR/SGA neonates are most at risk of Neonatal cold injury
True
Also any small baby
as have thin panniculus
T/F
Home birth is a risk factor for Neonatal cold injury
True
as may not be kept warm enough in first days of life
T/F
Neonatal cold injury usually presents within hours of birth
False
in first 4 days
What are the clinical features of Neonatal cold injury?
Hypothermic, obtunded child
Intense erythema or cyanosis of face and extremeties
Firm pitting oedema beginning at peripheries and progressing centrally
T/F
Infants with Neonatal cold injury may have poor feeding, vomiting and oliguria
True
What is the main DD of neonatal cold injury
Sclerema neonatorum
Both occur early in an unwell child
Hypothermia and form pitting oedema help differentiate cold injury clinically
T/F
Abnormal bleeding is a severe complication of Neonatal cold injury
True
can be blood in stool or vomit or pulmonary haemorrhage - main cause of death
T/F
Neonatal cold injury is fatal in about 25%
True
pulmonary haemorrhage - main cause of death
T/F
Omphalitis is a significant cause of death in developing countries
True
Infection of umbilical stump
Rare in developed countries
What are the risk factors for omphalitis?
long labour
non-sterile delivery/cord care
prem
low birth weight
T/F
neonates can spontaneously develop Necrotizing fasciitis
True
T/F
Noma Neonatorum is pseudamonas induced gangrene of nose, lips, mouth
True
T/F
Noma Neonatorum can rarely affect the perianal area, scrotum or eyelids
True
T/F
Skin lesions are a common feature of congenital TB
False
v rare
Usually affects lungs or liver
T/F
Malassezia Spp can be isolated in 60-70% of cases of neonatal cepahlic pustulosis
True
Negative cases may be neonatal acne
T/F
M furfur colonization begins soon after birth and increases for 12 months
False
takes 3 months to reach steady state
T/F
Infantile pedal papules are common in neonates but resolve in weeks or months
False
common in neonate then increase prevalence in infants but resolve by age 3
6% neonates, 40% of infants
T/F
Infantile pedal papules are benign, asymptomatic 0.5-1cm nodules on medial foot, usually just anterior to heel
True
T/F
Maternal malignancy occurs in 1:1000 pregnancies
True
T/F
In Maternal malignancy cancer cells often reach the foetus
True
but transfer of cancer is very rare
T/F
90% of cases of Transplacental transfer of malignancy have been malignant melanoma
True
T/F
Melanoma transferred in utero usually regresses after birth
False
can do but this is not usual
What cancers are most risk for tranplacental transfer?
Melanoma most
Lymphoma and leukaemia also
What are the complications of Congenital annular limb lesions/amniotic bands?
malformation
lymphoedema
ischaemia
autoamputation
T/F
Purpura fulminans represents progressive haemorrhagic necrosis of the skin due to cutaneous vascular thrombosis
True
What is the main cause of Purpura fulminans in neonates
homozygous deficiency of protein C Or sometimes protein S Infection less common in this age group Skin lesions appear in first 12 hours Or rarely delayed until no later than first few days
What is the main cause of Purpura fulminans in older infants and children
Infection esp N. meningitidis
Also strep, gonococcus, HIB/other bacteria
Viral - varicella, measles
T/F
Patients with factor V Leiden mutation as well as protein C or S deficiency have a higher risk of purpura fulminans
True
What are the features of Neonatal Purpura fulminans ?
Sudden onset with rapid enlargement of lesions
Symmetrical lakes of confluent ecchymosis without petechiae on limbs and pressure sites
esp buttocks and scalp, sometimes trunk, face and scalp
T/F
Neonatal Purpura fulminans can present as a retiform purpura initially
True
T/F
Lesions of Neonatal Purpura fulminans are surrounded by blanching erythema and are painful
True
T/F
Lesions of Neonatal Purpura fulminans can progress to full thickness skin necrosis
True
will do so if untreated
T/F
In Neonatal Purpura fulminans due to protein C or S deficiency there are no other blood abnormalities
False
bloods show DIC
T/F Risks of Neonatal Purpura fulminans include; CNS thrombosis retinal vessel thrombosis internal haemorrhage death
True
What is the managemen tof Neonatal Purpura fulminans?
test levels of protein C and S and factor V leiden
screen for infection and other causes
o FFP 10-15 ml/kg/12h
o Replace protein C with concentrate if deficiency confirmed. Treat until skin lesions healed
o Ongoing Rx with anticoagulants and regular protein C
o Liver transplant has been successful
T/F
Multiple carboxylase deficiency presents with erythrosquamous rash, vomiitng and neurological features;
convulsions, ataxia, hypotonia, developmental delay
True
Well demarcated erythrosquamous rash – starts on scalp, eyebrows and lid margins & extends to perioral, perianal and flexures
May be blepharitis and keratoconjunctivitis causing photophobia
T/F
Multiple carboxylase deficiency is a DD for seb derm, eczema, zinc deficiency and disseminated napkin dermatitis
True
Whta are the causes of Blueberry muffin baby?
IBM TORCH(spc) bloodSTAR
Idiopathic (rare)
Bleeding
Malignancy - Leukaemia or myelodysplasia
Congenital infections esp Rubella;
TORCH infections; Toxoplasmosis, Others, Rubella, CMV, Herpes viruses (HSV, VZV)
- Others = syphilis, parvovirus, coxsackie virus
Haematological disorders; STAR hereditary Spherocytosis Twin-twin transfusion syndrome ABO incompatability Rhesus incompatability
T/F
Blueberry muffin baby is the clinical appearance of widespread lesions due to dermal erythropoiesis (Extramedullary haematopoiesis)
True
T/F
dermal erythropoiesis is normal in early foetal life
True
T/F
Blueberry muffin baby often has lesions on trunk and limbs sparing face
False
Commonly on trunk, head or neck
Limbs spared
T/F
Blueberry muffin baby lesions are macules or infiltrated-looking papules up to 1cm diameter, purple to dark blue or magenta colour, which may have petechiae on surface
True
T/F
Dermal erythropeiesis is possible due to aggregates of erythrocyte precursors in the reticular dermis
True
Bolognia says precursors of leukocytes and megakaryocytes are also present (ie. All 3 cell line precursors in varying ratios)
but Rook says only RBC precursors
What are the DDs of Blueberry muffin baby
Neoplastic infiltrates – congenital leukaemia cutis, neonatal neuroblastoma, rhabdomyosarcoma
Neonatal Lupus
Congenital Langerhans cell histiocytosis (esp congenital self healing reticulohistycytosis)
Vascular tumours; Haemangiomas, haemangioendotheliomas or glomulovenous malformations
What is the management of Blueberry muffin baby?
Usually biopsy to confirm - dont wait fro result if clinical appearance classical - go onto next steps simultaneously
screen for infections
assess for haematologic disease or malignancy - refer to paediatric haematologist in most cases
when cause treated lesions fade to pale brown macules in few weeks
T/F
Acute haemorrhagic oedema of childhood only affects children under 5
False
Under 2
4 months to 2 years
V. rare in older ages
T/F
Acute haemorrhagic oedema of childhood presents with ecchymoses and petechiae of head and distal extremeties with oedema of limbs
True
sudden onset
Often assymetrical
lesions are tender and progress proximally
Cann be annular, targetoid, discoid or cockade pattern (rosette)
What are the causes of Acute haemorrhagic oedema of childhood?
Infection most common - often triggered by URTI or UTI – staph, strep, E. Coli, CMV, adenovirus, coxsackie, rotavirus
Drugs
Vaccines
T/F
Acute haemorrhagic oedema of childhood may present with non tender facial oedema
True
T/F
Acute haemorrhagic oedema of childhood can cause arthralgia, GI or kidney manifestation sof vasculitis
True
rare
T/F
In Acute haemorrhagic oedema of childhood the child is febrile, obtunded and unstable
False
can be febrile but usually well
What are the IF findings of AHOC?
fibrin and C3 around vessels
IgM in up to 75%
IgA deposition in 25%
What are the HandE findings of AHOC?
May be just perivascular lymphohistiocytic infiltrate with RBC extravasation
Or may be LCCV
Dermal oedema often prominent
What are the DDs of AHOC?
HSP Other CSVV EM Kawasakis Sweets NAI Can resemble purpura
T/F
Acute haemorrhagic oedema of childhood is self limiting and resolvs in 1-3 weeks
True
Rare cases need steroids, NSAIDs etc due to skin Dx or complications
T/F
Rare complication sof Acute haemorrhagic oedema of childhood include;
renal vasculitis - usually transient
V rare mlaena and intussusceptions
True
T/F
Intrauterine HSV accounts for 5% of all neonatal HSV
True
usually HSV2
T/F
Intrauterine HSV is due to either transplacental transmission or ascending infection from genital tract if prolonged RoM’s
True
T/F
Intrauterine HSV results in ulcers, pustules or vesicles present at birth
True
usually
What are the complications of Intrauterine HSV ?
Low birth weight
microcephaly
chorioretinitis
cutaneous atrophy or scarring
T/F
Neonates who are prem, SGA or immunodeficient are at increased risk of pseudamonas infection including of skin
True
ecthyma gangrenosum
T/F
neonatal candidiasis can present on day 1 or 2
False
very unusual.
congenital candida presents at birth or in first few days
Neonatal candida usually not symptomatic until second week
T/F
Congenital candidiasis represents maternal chorioamnionitis due to ascending candida infection
True
T/F
Congenital candidiasis may be suggested by lesions on the placenta and cord
True
T/F
Congenital candidiasis is high risk for systemic infection and systemic meds may be required
True
Amphotericin B
T/F
Congenital candidiasis can only occur of there has been rupture of the membranes
False
T/F
foreign bodies in uterus or vagina increase risk of Congenital candidiasis
True
esp IUDs
T/F
palmer and plantar lesions are unusual in Congenital candidiasis
False
palmer plantar psutulosis of the neonate is a hallmark of Congenital candidiasis
T/F
Congenital candidiasis can be confined to skin +/- mucosae or can be systemic eg lungs or rarely maningitis
True
T/F
neonatal candidiasis mainly affects the nappy are esp perianal
True
can also cause intertrigo elsewhere and thrush
T/F
A beefy red, scalloped appearnce with satellite pustules is characteristic of napkin candidiasis
True
T/F
5-10% of mothers have vaginal candida at time of delivery
False
20-25%
T/F
neonatal candidiasis is acquired from a souce other than the mother
False
comes from birth canal during delivery
T/F
Topical treatments are usually sufficient for neonatal candidiasis
True
T/F
80% of neonates with congenital syphylis have skin findings
False
40-50%
What are the signs of congenital syphylis in the neonate?
‘snuffles’ – copious purulent or serosanguinous discharge from nose; can cause nasal bone & cartilage destruction. Most frequent and important sign
Coppery red skin lesions similar to acquired secondary syphilis. Esp on palms and soles and elsewhere on extremeties
Or
Vesiculobullous eruption
Or
Bullae – ‘pemphigus syphyliticus’ – on reddish infiltrated skin e.g. palms and soles – blister fluid contains treponemes
Also
deep fissured around mouth, nose and anus
paronychia
Lymphadenopathy and hepatosplenomegally often with jaundice
What are the cosequences of in utero transmission of syphylis?
40% have healthy baby – syphilis not established in child
20% have child born with congenital syphilis - often prem and/or low birth weight
20% early neonatal death
10% spontaneous abortion in 2nd or 3rd trimester
10% stillbirth
T/F
Early congenital syphilis lasts from birth to age 2 years
True
T/F
Mother can pass syphylis on to unborn foetus in any stage of syphilis causing congenital syphilis
True
T/F
The longer mum has had syphilis, the more likely she is to transmit it
False
less likely
T/F
Syphylis transmission risk is reduced to 50% if infection was >2 years pre-pregnancy
True
T/F
Low risk of syphylis transmission if infection occurs in later pregnancy – 7th month onwards
True
T/F
No transplacental transmission if mother infected in last 6 wks of pregnancy and baby cannot get syphylis
False
No transplacental transmission
but risk of perinatal transmission – baby develops chancre e.g on face or elsewhere
What are the short term complications of congenital syphylis?
Rhagade scars at periorificial sites Bone lesions Jaundice Choreoretinitis Pneumonia alba (syphylitic pneumonitis) Nephritic syndrome/ nephropathy Congenital neurosyphylis – meningitis, meningoencephalitis, neck stiffness, bulging fontanelle, hydrocephalus. Can result in severe intellectual impairment Anaemia, low platelets
T/F
Healthy term neonates are at risk of Aspergillus infection
False
only very prem or if immunocompromised
T/F
Neonatal HSV ofetn presents at birth
False
usually presents after 5 days but can be birth to 2 weeks
T/F
Grey-white pustules with erythematous rim mainly on the back are a rare but characteristic presentation of early neonatal Listeriosis
True
T/F
Late neonatal Listeriosis is more common than early
True
causes meningitis
T/F
In most cases of neonatal HSV the mother has a long history of recurrent genital HSV
False
usually asymptomatic and no prior Hx
T/F
neonatal HSV presents with grouped vesicles on skin or mucosae and can cause meningitis or encephaliits
True
Must exclude meningitis or encephaliits
ealry Rx necessary to prevent dissemination
T/F
Foetal varicella syndrome (FVS) occurs if mother contracts VZV after 30 weeks
False
Highest risk is 13-20 weeks but can get it anywhere between 7-28 weeks
Clinical sequele are rare even when transmission takes place
T/F
90% of pregnant women ar immune to VZV
True
T/F
1 in 10000 women get chickenpox in pregnancy
False
1 in 1000
T/F
VZV is transmitted to the foetus in 90% of pregnant women who get chickenpox
False
25%
considered low risk
T/F
If VZV is transmitted to the foetus most will have miscarriage or develop clinical FVS
False
Most are normal
About 2% of maternal primary VZV infection in pregnancy results in adverse outcomes
T/F
Giving acyclovir to infected pregnant woman prevents foeatl transmission and FVS
False
only helps mum
T/F
A non-immune pregnant woman exposed to the virus should be given VZIG
True
although no definite evidence that it prevents foeatl infection or damage
T/F
Neonates born to women who have chickenpox at the ttime of delivery should be given VZIG as it reduces risk of infection
False
Give VZIG as reduced severity but does not reduce risk
give acyclovir if develop varicella
T/F
Herpes zoster in early infancy suggests intrauterine varicella
True
T/F
Neonatal varicella acquired from a mother who develops varicella 4 days either side of delivery is very high risk
True
child has no varicella immunity from mum so develops severe infection
30% mortality
What are the features of foetal varicella syndrome?
Low birth wt
Localised cutis aplasia esp on a limb
Dermatomal scars
Papular lesions resembling connective tissue naevi
Hypoplasia of one or more limbs and/or digits
Ocular anomalies (cataracts, Horner’s, microphthalmia, chorioretinitis)
CNS (seizures, mental retardation, hydrocephalus, encephalitis) Generalized distribution
25% mortality in first 3 months
T/F
congenital rubella rarely causes skin signs
False skin signs common; lesions of dermal erythropoeisis or full blown blueberry muffin baby Hyperpigmentation of face and umbilicus seborrhoea deep dimples over bony prominences
T/F
seb derm of the face, scalp and proximal flexures is the most characterisitic presentation of neontal HIV
True
What are the causes of palmer-plantar eruptions in the neonate?
Scabies Transient pustular melanosis Neonatal acropustulosis Congenital candidiasis Congenital syphylis Behcet's Pustular psoriasis
T/F
Scabies often presents in the first 2 weeks of life
False
need sensitization to kite to show clinical features
cannot present before 3rd week of life
similar to adult presentation but may be more pustules, papules or nodules
esp axillae, groin,wrists, palms, soles
check family members
T/F
Permethrin is used for scabies in infants under 6 months
False
Likely safe but not licensed
Treat with precipitated sulphur 6-10% in Aq cream BD for 3 days
What are the causes of Erythroderma in Neonate?
Idiopathic/Unknown (8%) Immunodeficiency (30%) - SCID; GVHD - Omenn - Leiner disease Icthyoses – NBIE, BIE, Conradi HH (24%) Nethertons (18%) Eczematous/papulosquamous dermatosis (20%) – AD, seb derm, Pso, PRP, erythrokeratoderma variabilis, lupus, Zinc or other deficiency, syphilis, scabies Infection – SSSS, TSS, candidiasis, HSV, syphilis Metabolic – Gaucher’s, biotin defcy Drugs – ceftriaxone, vanc
If blisters present consider;
o Bullous congenital icthyosiform erythroderma
o SSSS
o Diffuse cutaneous mastocytosis
What are the investigations of Erythroderma in Neonate?
FBC Immunoglobulins ELFT to assess fluid balance \+/- skin biopsy Bone marrow biopsy Others
What symptoms are suspicuous for immunodefficiency in a neonate?
Failure to thrive infections - esp if many, longer than usual or atypical organisms or persistant mucocutaneous candidiasis after one year of age diarrhoea lymphadenopathy alopecia erythroderma or eczematous rash Also consanguinity FHx of child with unusual or fatal infection delayed separation of umbilical cord
What are the major erythrosquamous eruptions in neonates?
AD Seb derm disseminated napkin dermatitis Pso PRP Erythrokeratoderma variabilis lupus Zinc or other deficiency syphilis scabies
T/F
Congenital melanocytic naevi are present in up to 2% of newborns
True
esp Asian and black skin
T/F
Naevi resembling congenital naevi but appearing after birth in first 5 years are called ‘congenital naevus tardive’ and are considered together w/ congenital naevi
False
occur in first 2 years
T/F
Congenital melanocytic naevi can be part of epidermal naevus syndromes
True esp; Phacomatosis pigmentokeratotica SCALP syndrome; - Sebaceous naevus - Central nervous system abnormalities - Aplasia cutis - Limbal dermoid - Pigmented naevus (CMN)
T/F
Congenital melanocytic naevi are categorised based on diameter at birth
False
Congenital naevi categorised based on adult diameter attained
T/F
Congenital melanocytic naevus >1cm in an adult is classed as large
False
1.5cm or above is large
What are the diameter categories for Congenital melanocytic naevi?
Small 20cm
Also;
Naevi >9cm on scalp in adults are considered giant
Naevi >6cm on the body in neonates are considered giant
Can call naevi >40cm diameter ‘garment naevi’
T/F
Congenital melanocytic naevi >6cm on the body in neonates are considered giant
True
T/F
Giant/garment naevi in lumbosacral region often called ‘bathing trunk’ naevi
True
usually cover lower back, buttocks and extend to thighs
T/F
Most Congenital melanocytic naevi are in the large category
False
most are small
T/F
Higher risk of melanoma in congenital naevi >5cm diameter when an adult
False
>10cm
risk increases with increasing size after this
T/F
Congenital melanocytic naevi are always darkly pigmented at birth
False
can be pale brown and resemble CALM
T/F
Congenital melanocytic naevi are usualy raised and papular at birth
False
most often dark brown macules
May become thicker in childhood
T/F
Congenital melanocytic naevi often have thick dark hairs
True
esp on scalp
hair often appears as naevus becomes thicker
T/F
Congenital melanocytic naevi darken or stay the same colour with age
False
Many become more pale in first 2 years – worth delaying treatment for cosmetic reasons until after this time
T/F
75% of bathing trunk congenital melanocytic naevi have satellite naevi which can be quite distant from main tumour
True
T/F
75% of bathing trunk congenital melanocytic naevi have mucosal naevi
False
30%
T/F
Bathing trunk congenital melanocytic naevi often develop a thick, rugose or warty surface
True
T/F
Congenital melanocytic naevi can develop benign nodules within them
True
Due to proliferation of epiphelioid melanocytes - but always suspicious for melanoma
What are the dermoscopic findings of Congenital melanocytic naevi?
Structureless diffuse pigmentation - no network globules milia-like cysts hypertrichosis perifollicular pigment changes hyphae-like structures
What are the histo features of Congenital melanocytic naevi?
Dermal or compound type melanocytic naevus with naevus cells extending more deeply into dermis than usuallly seen
Often naevus cells involve appendages and can extend into fat and muscle
Naevus cells may be arranged in ‘splaying’ pattern AKA single file or ‘Indian filing’
Depth of melanocytic invasion varies between individuals
T/F
Congenital melanocytic naevi begin superficially and become deeper as child ages so dermabrasion early on is useful
False
depth varies between naevi but usually deep from the offset
What are the complications of Congenital melanocytic naevi?
Melanoma – esp superficial spreading
Nodular proliferative neurocristic hamartoma – may be present at birth, benign
Nodularities
Pts w/ giant naevi can develop extracutaneous melanoma – CNS, retroperitoneum etc
Other tumours (rare) – neurogenic sarcoma, fibrosarcoma, leiomyosarcoma, rhabdomyosarcoma, osteogenic sarcoma, liposarcoma
T/F
Nodular melanoma are the most common type to arise in Congenital melanocytic naevi
False
superficial spreading most common
T/F
Congenital melanocytic naevi are associated with increased risk of mets with unknown primary as a presentation of melanoma
True
T/F
Congenital melanocytic naevi are associated with increased risk of melanoma arising from an extracutaneous site
True
T/F
Melanomas in Congenital melanocytic naevi are easilt clinically identiifed
False
Can arise from dermal portion making diagnosis difficult
Nodularities caused by proliferation of epiphelioid melanocytes simulate melanoma
T/F
5-7% of giant congenital melanocytic naevi pts get melanoma by age 60
True
T/F
Neurocutaneous melanosis is a concern in all pts with congenital melanocytic naevi
False
Very unlikely in single small CMNs.
Concern if large or giant or if numerous small CMNs
T/F
Neurocutaneous melanosis is the involvement of the nervous system by melanocytic proliferation when there is a CMN
True
In particular it is the presence of meningeal melanosis
T/F
CNS compliacations are common in pts with Neurocutaneous melanosis
False
rare
T/F CNS compliacations in pts with Neurocutaneous melanosis include; raised ICP hydrocephalus spinal space-occupying lesions
True
T/F
Pts with Neurocutaneous melanosis may have other malformations
True spina bifida meningocele club foot atrophy or hypertrophy of fat or musculoskeletal structures esp under naevi on limbs
T/F
Absence of subcut fat under the naevus is the most common associated abnormality of CMN
True
T/F
Pts with Neurocutaneous melanosis can develop melanoma in skin lesions or in meningeal melanosis but not in both
True
T/F
Speckled and lentiginous naevus is an uncommon type of CMN
True
T/F
Speckled and lentiginous naevus may be associated with certain congenital syndromes
True
phakomatosis pigmentovascularis (type 3+4)
phakomatosis pigmentokeratotica
speckled lentiginous naevus syndrome
What are the features of speckled lentiginous naevus syndrome?
Speckled lentiginous naevus + HIM
Hyperhidrosis
Ipsilateral dysaesthesia
Muscle weakness
T/F
Other naevi types can sometimes be found in association with a Speckled and lentiginous naevus
True
atypical, blue or Spitz naevus
T/F
What is DD of Speckled and lentiginous naevus?
agminated naevi (junctional, compound or spitz) partial unilateral lentiginosis
T/F
Speckled and lentiginous naevus has increased risk of melanoma
True
small risk of melanoma developing within
T/F
A Speckled and lentiginous naevus which starts to develop atypical areas at puberty should be excised
True
T/F
Congenital melanocytic naevi can be familial
False
usually sporadic developmental defect
Chance of a second child with a congenital naevus is very tiny
T/F
Melanoma associated with Congenital melanocytic naevi tend to occur earlier than sporadic MMs
True
T/F
Melanoma associated with Congenital melanocytic naevi can occur in early childhood
True
T/F
In CMN removing the involved skin removes the risk of malignancy
False
can extend into deeper structures and can be neurocutaneous melanosis
T/F
Small Congenital melanocytic naevi are routinely excised in infancy
False
May be reasonable to do so but not routine
T/F
Congenital melanocytic naevi develop satellite naevi mainly in the first 2 years of life
True
What are the considrations for intervention in Congenital melanocytic naevi?
- Melanoma risk higher the bigger the naevus but risk not eliminated by removing all skin naevus
- Cosmesis and Psychological impact of the MM on children is significant
- General anaesthetic higher risk below 6 months
- Satellite naevi develop mainly in the first 2 years of life
- Many become more pale in first 2 years
- Pts w/ symptomatic neurocutaneous melanosis should not have their naevus excised as have poor prognosis
What are the treatment options for CMN?
Monitor only - see every 3-6 months initially
- regular follow up and photos and advise parents on what melanomas look like and how to examine at home
- Biopsy any new nodular areas or other new suspicious areas
Or
Surgery - if large/giant may need staged excision, tissue expanders or grafts
No good evidence for curettage, dermabrasion or laser
What is SCALP syndrome?
Type of epidermal naevus syndrome;
- Sebaceous naevus
- Central nervous system abnormalities
- Aplasia cutis
- Limbal dermoid
- Pigmented naevus (CMN)
What are tests for immunodeficiency syndromes?
FBC lymphocyte subsets Ig subclasses C3, C4 CH50 (total complement pathway activity test) CXR spirometry blood or other cultures Serology for tetanus, HIB, pneumococcus (if over 2yrs) 2nd line tests; genetic or chromosomal studies High res CT chest bronchoscopy tissue biopsies specialist neutrophil or lymphocyte tests
What is SCID?
Group of related siorders with defects of both humoral and cell-mediated immunity
What is the inheritence of SCID?
Mostly X-linked
also AR types
T/F
Nearly all pts with SCID have low lymphocyte count and profound T-cell deficiency
True
T/F
some types of SCID have annormalities of B cells or NK cells
True
T/F
SCID presents in first 3-6 months of life with recurrent infections and failure to thrive
True
Which infections are commonly seen in SCID?
Persistant viral infection sof chest or gut eg rotavirus, norovirus
PCP
recalitrant or recurrent candida - most common derm feature
T/F
SCID infants suffer from GVHD due to maternal lymphocytes
True
maternal lymphocytes transferred via placenta and engraft in neonate
can also be caused by infusion of non-irradiated blood
T/F
Mucocutaneous ulceration is the hallmark of leukocyte adhesion deficiency
True
T/F
Abscesses and faruncles are characterisitic of neutrophil disorders
True
also seen in antbody deficiency and hyper IgE syndrome
T/F
Lymphocyte disorders predispose to severe or extensive HSV or VZV
True
T/F
Extensive warts or molluscum are seen in SCID
False seen in Wiskott-Aldrich syndrome Hyper-IgE syndrome Wart hypogammaglobulinaemia infection
What are the features of GVHD in SCID?
widepread morbilliform rash or seb derm-like eruption. Can be erythroderma
The skin is infiltrated by foreign T-cell clones - cannot fight them off as SCID infants lack functional T-cells
T/F
Omenn syndrome is an AD form of SCID with dermatological features
False
AR form of SCID
Mutation in RAG1 or RAG2 genes
T/F
In Omenn syndrome there is neonatal erythroderma followed by hepatosplenomegally, lymphadenopathy and alopecia universalis
True The skin is red, exfoliative and thickened or leathery also get diarrhoea, FTT and persistant infection OMENN Open bowels Massive organs and nodes Erythroderma like leather No hair No growth (FTT)
What is Wiskott-Aldrich syndrome?
What is the gene and inheritence?
Mutation of WASp gene X-linked recessive - affects males only Eczema Thrombocytopenia Immunodeficiency with low IgM
Often bruising, bloody diarrhoea and recurrent infections esp sinusitis, URTI and LRTI - cause petechiae and bruising of skin and mucosae
Get splenomegally, lymphoma and leukemia
25% get NHL in 20s
What is IPEX syndrome?
What is the gene and inheritence?
Mutation of FOXP3 gene X-linked recessive - affects males only abnormal development of Tregs Immune dysregulation Polyendocrinopathy - diabetes, thyroid Enteropathy X-linked get severe eczema, diarrhoea and FTT
What is chronic mucocutaneous candidiasis?
immunodeficiency of various types with a particular inability to mount a response to C albicans
AD or AR types
Pts get severe, resistant or recurrent candida of skin, nails and mucosae
may also get severe infections with other organisms inclduing bacteria
50% have APECED syndrome or Autoimmune polyendocrinopathy type 1
T/F
all pts with chronic mucocutaneous candidiasis have APECED syndrome or other polyendocrinopathy
False
50% do
What is Ataxia-telangiectasia?
What is the gene and inheritence?
multisystem disorder ATM gene, AR progressive cerebellar ataxia beginning in infancy occulocutaneous telys from age 3-6 yrs Progeric changes of skin and hair recurrent sinopulmonary infections and granulomas developmental delay growth retardation can get resp failure hypogonadism Inc risk of leukaemia and lymphomas
What is Nethertons disease?
What is the gene and inheritence?
Nethertons ARE FISH 2 (2 items for each letter) Autosomal, Atopy Recessive, Recurrent infection Eosinophilia, Erythroderma FTT, Food allergy (nuts, fish) IgE, Icthyosis (linearis curcumflexa) SPINK5, Short stature Hair shaft abnormalities (trichorrhexis invaginata and trichorrhexis nodosa Pili torti) and sparse Hair
Scabies treatment in infants
Many people use permethrin from birth but not liscensed until over 6 months
In USA lyclear lisenced from age 2 months
Probably should use precipitated sulphur in babies under 2 months although poor efffectiveness
T/F
SCID syndrome is usually AR
False
75% X linked (boys affected)
T/F
B cell deficiency is the main problem in SCID syndrome
False
Profound T cell deficiency
Can get B or NK cell deficiency also
T/F
SCID syndrome pts Get GVHD from maternal lymphocytes
True
cannot mount T-cell response against them
What are the skin presentations of SCID?
Persistent, treatment resistant superficial candidiasis is the commonest dermatological feature Seb derm like rash Morbiliform rash Erythroderma all 3 of these mainly due to GVHD
What is Di George syndrome?
What is the gene and inheritence?
Velo cardio/cranio facial syndrome
Classic triad:
Congenital heart defects
Immunodeficiency secondary to thymic hypoplasia, Hypocalcaemia secondary to parathyroid gland hypoplasia;
+/- dysmorphic facies, autoimmune phenomena, learning difficulties
AD 22q11.2
microdeletion
CATCH22 Cardiac abnormality esp Fallot Abnormal Facies Thymic aplasia (so T cells dysfunctional) Cleft palate (velo=palate) Hypoparathyroid, Hypocalcaemia 22 – Chr 22 microdeletion
What is hyper IgE syndrome?
What is the gene and inheritence?
= Job syndrome STAT3 (AD) or DOCK8 (AR) elevation of serum IgE level (2000-40 000 U/l); >10x ULN Recurrent sinopulmonary and skin infections - inc staph, candidiasis, cold abscesses Pneumonias, pneumatoceles Abnormal facies, broad nasal bridge, high arched palate Osteopenia + Pathological fractures Scoliosis, dental abnormalities
Eczematous rash
(No asthma or hayfever despite high IgE)
Papulopustular rash
What is Chediak-Higashi syndrome?
What is the gene and inheritence?
AR CHS1 =LYST gene HIGASHI Hair- silver, Hb – low (anaemia) Inhibited phagocytosis Giant lysosomal granules Albinism – partial occ-cutaneous w/ photophobia Seizures, strabismus/nystagmus Hyperpigmentation of exposed sites Infections (recurrent bacterial infections esp cutaneous and respiratory tract)
What is Leiner disease?
Complement system defect Inadequate opsonization cause unknown Severe seb derm Erythroderma Napkin rash – severe Not itchy Skin infections F>M Can present at birth or in neonatal period; usually in first few months Recurrent diarrhoea FTT
T/F
Strong correlation between autoimmune disease and IgA deficiency
True
e.g. Cutaneous diseases such as psoriasis, vitiligo, dermatomyositis
T/F
IgA deficiency is rare and mainly affects asians
False
Common – 1:600 caucasians
Often asymptomatic
Can get Recurrent URT and ear infections or rarely CVID
