Dx of the Connctive Tissues Dan Flashcards
What is follicular atrophoderma?
Dimple-like ice pick depressions at follicular orifices from birth or early life backs of the hands and feet and cheeks and sometimes in the elbow region can be isolated or part of syndrome syndrome
associations;
1. Palmoplantar hyperkeratosis, follicular keratosis, or palmoplantar hyperhidrosis
2. Bazex syndrome (Bazex-Dupre-Christol)
3. Conradi hunerman syndrome
What is Spontaneous atrophic scarring of the cheeks?
Probably AD disease spontaneous scarring of cheeks in childhood linear/square/varioliform No trauma/acne/inflammation prior asymptomatic/ slight itch
What is vermiculate atrophoderma?
childhood onset, progressive
inflamed follicular plugs on cheeks leading to cribriform/worm-eaten (vermiculate) atrophy
Part of keratosis pilaris atrophicans syndrome or Rombo syndrome
What are the DDs for scarring of the cheeks in kids?
Spontaneous atrophic scarring of the cheeks
Vermiculate Atrophoderma
Follicular atrophoderma
Lipid proteinosisEPP (porphyria)
Hyper IgE syndrome (Job syndrome) – pitted scarring on face
Hydroa vacciniforme (inflammation with sun exposure before scarring)
Varicella scars, juvenille acne scars
DA
What is congenital Cutis laxa?
Lax pendulous skin w/ loss of elastic tissue in dermis
AD (presents later):
ELN(elastin) or FBLN5 (fibulin5)
AR (more common but more severe) - 3 types;
FBLN4 or 5 (type 1) or loss of functional mutations proton ATPase (type 2)
De Barsey syndrome (type 3)
Occipital Horn syndrome - rare X-linked type
What are the types of Keratosis Pilaris atrophicans?
Keratosis pilaris atrophicans faciei (bearded face)
Erythromelanosis follicularis faciei et colli (face and neck)
Ulerythema ophryogenes (eyebrows)
Keratosis follicularis spinulosa decalvans (scalp)
Atrophoderma vermiculata (cheeks)
What is Conradi Hunerman Happle syndrome?
what is the gene and inheritence?
CDPX2 gene XLD, affects females (Conrad Doesnt Play Xylophone 2) SAD FACE Short stature + scoliosis Assymetrical cataracts Dysmorphic face – frontal bossing and macrocephaly Follicular atrophoderma Alopecia Chondrodysplasia punctata – resolves by 2-5 years Erythroderma
What is Bazex-Dupre-Christol syndrome?
Follicular atrophoderma-BCC syndrome
BAZEX MGF
BCCs - esp on face
Atrophoderma - follicular, of extremeties
Zero sweat - hypohidrosis above neck
Empty follicles - scalp hypotrichosis in males
X-linked dominant (males + females affected)
Also;
Milia
Genital trichoepitheliomas
Facial hyperpigmentation
What are features of Atrophoderma of Pasini and Pierini?
Young women
Brown/blue depressed round/oval patches usually on the back
Can be chest/ arms/ abdomen; spares acral sites
‘Cliff drop’ 1-8mm from normal skin
NO erythema/lilac edge, NO induration
Linear variant; Linear atrophoderma of Moulin
Slowly extend in size and number for 10yrs then stabilize and persist
Benign condition, asymptomatic
cause unknown
mooted assoc w/ Lyme borreliosis
What is Rx of Atrophoderma of Pasini and Pierini?
No proven treatment but PUVA has helped
some people Rx with penicillin/ tetracycline given Borrelia association
HCQ or Q-switched laser have had positive case reports
What is histo of Atrophoderma of Pasini and Pierini?
Oedematous and clumped collagen in lower dermis initially; later oedema subsides
Can be increased basal layer pigmentation
Perivascular infiltrate of macrophages and T-lymphocytes
IMF shows IgM and C3 in dermal blood vessels
Eventually epidermal atrophy
Normal elastin
What is Acrodermatitis Chronica Atrophicans?
Late manifestation of Lyme borreliosis
Insidious onset of painless dull red nodules or plaques on the extremities (acro=acral), which slowly extend centrifugally leaving areas of central wrinkled atrophy and can be dyspigmentation or scale
May be pain, itch, numbness, hyperaesthesia
Due to Borrelia afzelii - N and C Europe, Italy and the Iberian Peninsula (rare in UK and USA)
T/F
Panatrophy means thinning of the dermis and epidermis
False
Means atrophy of dermis + SC fat +/- deeper structures (muscle and bone)
may be due to neurological defect of sympathetic nervous system
NB In cutaneous and panatrophy there may or may not be epidermal atrophy
Panatrophy Includes;
Local Panatrophy
- Gower or Sclerotic
- Parry-Romberg’s syndrome
What are causes of Generalised cutaneous atrophy?
Aging
RA
steroids
What are causes of Localised cutaneous atrophy?
Poikiloderma - congenital and acquired causes Atrophic scars - Varicella, LE, TB, deep fungal, Syphylis, ILCS, XRT Striae distensae Anetoderma-primary or secondary Acrodermatitis chronica atrophicans Follicular atrophoderma Vermiculate atrophoderma Atrophoderma of Pasini and Pierini Atrophic naevi
What is Panatrophy of Gower?
V rare condtion
Affects women in teens-30s
No preceding inflammatory sclerotic process
Back/buttocks/thighs/upper arms.
Irreg shape, develops in few wks then stays unchanged
DDx panniculitis
What is Sclerotic panatrophy?
Rare condition
sclerotic change precedes development of panatrophy
Linear band develop along limb or surround limb or trunk
Usually solitary
stop progression after few mths
T/F
Progressive Hemifacial Atrophy (Parry-Romberg’s syndrome) is the same as en coup de sabre
False
In Parry-Romberg there is little/no sclerosis of skin and skin is not bound down although it is atrophic
En coup de sabre usuallly limited to forehed and adjacent scalp and is limited to the skin
but can have en coup de sabre as well as Parry-Romberg
Most think these 2 are on a spectrum
T/F
Progressive Hemifacial Atrophy (Parry-Romberg’s syndrome) affects F>M
True
3x more females
NB en coupe de sabre also affects 2-3x more females
What are the features of Progressive Hemifacial Atrophy (Parry-Romberg’s syndrome)
Starts under age 20 Hyper/hypo pigmentation in irreg patches on cheeks, forehead and lower jaw May start w/ muscle spasms or neuralgia progressive atrophy ensues for months Can have hair loss heterochromia irides in 5% Variety of neurological signs - Horner’s most common, Epilepsy Can be localised to 1 division of trigeminal or involve whole side of face w sharp midline demarcation. Rarely bilat, or may involve ipsilat body Rx MTX +/- pred PUVA surgery
What is sclerotylosis/ Huriez syndrome?
Some People Hurry
diffuse Scleroatrophy of the hands
mild PPK
Hypoplastic nail changes
Increased risk of skin SCC and bowel cancer
Scleroatrophy is like sclerodactyly but no Raynauds
Nail changes include prominent lunulae, elongated cuticles, longitudinal and transverse ridging, increased longitudinal curvature and V shaped notches
Acitretin may help
What are the congenital causes of poikiloderma?
Werners
Blooms
Rothmund-Thompson
Dyskeratosis Congenita
Kindler syndrome
XP
Trichothiodystrophy (photosensitive type; PIBIDS)
Hartnup disease
Mendes da Costa syndrome (erythrokeratoderma variabilis)
Hereditary acrokeratotic poikiloderma of Weary (one family described only)
Hereditary sclerosing poikiloderma of Weary
Degos –Touraine syndrome
Neutral lipid storage disease
What is Degos –Touraine syndrome?
Incontinentia pigmenti with poikiloderma and GI symptoms
What are the acquired causes of poikiloderma?
Poikiloderma of Civatte Dermatomyositis Cutaneous lupus LP Systemic sclerosis MF Poikiloderma with neutropenia (syndrome) Pre-lymphomatous poikiloderma (chronic superficial scaly dermatosis that has developed atrophy and reticulate pigmentation) Chronic cold or heat exposure XRT Acrodermatitis chronica atrophicans
What is the classification of causes of elastolysis (loss of elasticity)?
Generalised elastolysis
- congenital cutis laxa; AD, AR (3 types), X-L
- assoc w/ inherited disease; PXE, SCARF
- acquired
Localised elastolysis
Variants of elastolysis/anetoderma
What are the acquired causes of Generalised elastolysis (acquired cutis laxa)?
CHiKEN SOUP With Lyme Complement deficiency High fever (febrile illness) Klippel Trenaunay Erythema multiforme Neoplastic such as Myeloma SLE/ Sarcoid/Syphillis/Systemic amyloid, Rheumatoid A Oedema / Angio-oedeam Urticaria Penicillin allergy or other drug allergy/ pseudo-PXE With - Wilson's disease Lyme disease - Acrodermatitis chronica atrophicans
Which inherited conditions feature Generalised elastolysis? (other than congenital cutis laxa syndromes)
PXE SCARF Costello’s syndrome Geroderma osteodysplastica NB the recessve and XL variants of congenital cutis laxa feature systemic features as well as skin disease but are considered variants not separate diseases like those listed above
What are the causes of localised elastolysis?
Anetoderma Blepharochalasis Acrodermatitis chronica atrophicans Granulomatous slack skin Mid dermal elastolysis post inflammatory elastolysis and cutis laxa elastic tissue naevi
what is anetoderma?
Focal dermal defect of elastic tissue
Circumscribed, 1-2cm areas of flaccid skin, which may be elevated, macular or depressed
Trunk/thighs/upper armsfine, irregular, twisted elastic fibres but no elastorrhexis (fragmentation)
Can be primary or secondary
Primary - Inflammatory and non inflammatory types - Cause unknown
Secondary - Due to an underlying disease but doesn’t always develop at site of dermatosis - Assoc w/ antiphospholipid abs
what are the causes of secondary anetoderma?
PAP PUDDLES
Penicillamine
Acne
Pityriasis versicolor + staph, VZV, TB, Lyme Dx(ACA)
Pilomatrixoma
Urticaria Pigmentosa
DLE, SLE, CCLE(profundus/discoid) with C2 def, aPLS
Dermatofibroma, neurofibroma, involuted IH
Leprosy, Lymphoma, MF
Electrode attachment + other perinatal injuries
Sarcoidosis, Syphilis - occurs with secondary, latent, congenital or tertiary syphilis.
What are the features of primary anetoderma?
What is the Rx?
F 20-40yrs
Crops of 0.5-1cm erythematous macules develop on trunk, thighs and upper arms, occasionally elsewhere
Macules enlarge for short time then flatten and wrinkle
can be grey, white or blue in colour
5->100 lesionsmay develop new lesions for years
Lesions may coalesce resembling cutis laxa
Examining finger can sink into distinct pit w/ sharp borders w/ buldge reappearing when pressure is released
Cannot treat medically when established
try to slow progression with Penicillin and ε(epsilon)-amino caproic acid or colchicine
What is Blepharochalasis?
Laxity of eyelid from defect in elastic tissue, cause unknown
Usually sporadic, can be AD
Develops at puberty
What is Mid-Dermal Elastolysis?
Widespread wrinkling of the crinkle type involving the entire skin surface of young to middle aged women, usually middle aged Caucasian
discrete perifollicular papules
Selective band like loss of elastic fibres in mid dermis on van Gieson stain
Normal elastic fibres in rest of dermis
Preservation of elastic tissue around hair follicles - gives perifollicular papules
Triggers may include - UVR, AI-CTD, pregnancy, OCP, insect bites and Lyme Borreliosis
No effective Rx
What are the features of PXE?
What is the gene and inheritence?
ARABCC6 gene on Chr 16
Calcium accumulates in elastic fibres of skin + tissues
skin changes often present in childhood
CHICS (skin looks like chicken skin)
Comets, Angioid streaks + peau d’orange of eyes
Haemorrhage (upper GI bleed)
Ischaemic heart disease
Claudication (PVD) >age 30
Squeaky valves; MR/AR/ aortic dissection
NB also;
May get reticulate pigmentation on abdo
acneiform lesions
Usually arises before 30. Occasionally old age. Persists indefinitely
Changes similar to skin occur on all mucosal surfaces
Exaggerated horizontal or oblique mental crease pathognomonic finding
Eye changes due to calcification of Bruch’s membrane of retina
Risk of;
Bleeding - GI, intracranial
Miscarriage
What are the histopath features of PXE?
clumped, degenerate elastin fibres in mid-reticular dermis as seen on EVG stain calcium deposits (von kossa stain)
What is the work-up and management of PXE?
Can send for genetic testing for ABCC6 mutation
Skin biopsy
FBC, film, iron studies
ELFTs
Calcium, phosphate, Vit D
Fasting lipids and BSL for CV risk
Refer to ophth for fundoscopy
Refer cardiology for coronary angiogram
Consider;
o Echoo Doppler legs vessels
o CT head if neurology
o FOBs, urine for blood
There are complex diagnostic criteria -
Major are clinical skin or histo criteria, eye criteria and genetic/FHx crieria
2 or more major criteria from different categries is enough for diagnosis
Not much Rx for skin - low calcium diet may help; plastic surgery for most disfiguring
Main management is appropriate referrals for monitoring and care - eye, cardiol, obstetric etc
T/F
UVA causes more solar elastosis than UVB
False
UVB more important
What is Digital Papular Calcific Elastosis (DPCE)?
acrokeratoelastoidalis marginalis
collagenous and elastotic marginal plaques of hands
Acquired papular eruption w/ keratoderma + changes in dermal connective tissue
More often dominant hand
Affects radial aspect of index finger, 1st web space + ulnar aspect of thumb
can get SCC
What are the 3 histopathological zones of actinic granuloma?
External to annular lesion is solar elastosis
Thickened annulus w/ histiocytic and giant cell infiltrate
Central zone w/ little/no elastotic tissue remaining
what is the Rx of actinic granuloma?
Sun protection
ILCS and tretinoin
Isotretinoin/Acitretin has worked
What are the features of AR cutis laxa?
Characteristic facies “hound dog” – broad nose, sagging cheeks and large ears
premature aged appearance
vocal cord laxity (deep voice)
Risk of death with pulmonary emphysema
Herniae, diverticulae, osteoporosis, arotic aneurysm, dental caries
What is Ascher’s syndrome?
blepharochalaxis + progressive enlargement of the upper lip due to hypertrophy and inflammation of the labial salivary glands
May be excessive salivation
What are the features of Marfan’s syndrome?
AD mutation in fibrillin-1 gene (FBN1) 30% new mutations MARFANS Mitral valve prolapsed, Myopia Aortic Regurge, Aneurysm, Dissection Retinal detachment Fibrillin gene, Chr Fifteen + PH(marPHan)- Pectus excavatum, High arched palate Arachnodactyly Negative Nitroprusside test (differentiates from homocystinuria), neural deafness (6%) Subluxated lens (Upward or up + lateral dislocation of Lens) Skin features - HESP Hyperexensible skin Elastosis perforans serpiginosa Striae atrophicae Papraceous scars
what is the management of a Marfans pt?
refer to cardio and ophthal
Pregnancy unadvisable due to 50% risk of transmission and acceleration of CV disease and vascular rupture during pregnancy
Genetic counselling
Little skin Rx needed
What are the features of Ehlers Danlos syndrome - protein affected, genes, systemic features?
Heterogeneous group of defects in connective tissue Collagen mutations or proteins which interact with collagens Causes defective collagen network Elastic fibres are normal so skin is hyperextensible but has normal recoil 9 types - types 1-4 account for 60% of cases >40% are types 1 or 2 - collagen 5 mutations Most common types are AD Key features are; Soft, Hyperextensible skin Joint hypermobility easy bruising vascular pathology scarring and poor wound healing dental abnormalities common no mental problems
