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Genodermatoses Dan > Non Cancer Genoderms > Flashcards

Non Cancer Genoderms Flashcards

1
Q

What is LEOPARD syndrome?

What is the gene and inheritence?

A

AD condition
Mutation in PTPN11 gene on Chr 12
(Panther Tiger Puma Noonan 11 gene)
(Same gene as Noonans; also AD; Leopard sometimes called Noonans with lentigines)

Lentigines - many, widespread
ECG abnormalities
Ocular hypertelorism
Pulmonary stenosis
Abnormal genitalia
Retarded growth (short)
Deafness

Need lentigines + 2 other features
Or if no lentigines need 3 features + FHx

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2
Q

What are the features of Nail-patella syndrome?

What is the gene and inheritence?

A

AD
LMX1B gene on Chr 9
NAIL the Kid(ney) to the post - posterior iliac horns
Nail dystrophy w triangular lunulae
Aplasia of patella
Iliac horns + subluxed radial head + other bone abnorms
Lester iris + other eye signs; cataracts, glaucoma etc
Kidney dysplasia/ failure/ glomerulonephritis

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3
Q

What are the features of Conradi-Hunermann syndrome?

What is the gene and inheritence?

A

X-linked dominant chondrodysplasia punctata (stippled epiphyses)
affects females mainly
EBP gene - cholesterol biosynthesis
SAD FACE :(
Short stature + scoliosis
Assymetrical cataracts
Dysmorphic face – frontal bossing and macrocephaly
Follicular atrophoderma
Alopecia
Chondrodysplasia punctata – resolves by 2-5 years
Erythroderma + icthyosis of neonate

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4
Q

What is CHILD syndrome?

What is the gene and inheritence?

A 
X-linked dominant - affects females
NSDHL gene - cholesterol biosynthesis
CHILD
Congenital Hemidysplasia
Icthyosiform erythroderma
Limb Defects
also VAN
Visceral + CNS hyoplasia
Alopecia
Nail dystrophy
CT scan and refer.  Treat skin with top/sys retinoids or EOL if localised CHILD naevus
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5
Q

What are the features of PXE?

What is the gene and inheritence?

A 
AR
ABCC6 gene on Chr 16
Calcium accumulates in elastic fibres of skin + tissues
CHICS (skin looks like chicken skin)
Comets, Angioid streaks + peau d'orange of eyes
Haemorrhage (upper GI bleed)
Ischaemic heart disease
Claudication (PVD)
Squeaky valves; MR/AR/ aortic dissection

Risk of
Bleeding
Miscarriage

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6
Q

What is Buschke Ollendorf syndrome?

What is the gene and inheritence?

A

Rare AD syndrome
mutation in LEMD3 gene on Chr 12
2 main features: Osteopoikilosis + conective tissue naevi
Osteopoikilosis is sclerotic spotting of bones
can have Melorheostosis (candle wax long bones)
naevi are mainly juvenille elastomas - large yellow nodules
Can have collagenomas presenting as symmetrical lichenoid papules = dermatofibrosis lenticularis disseminata
Usually assymptomatic - rarely diabetes, deafness, bone cancers

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7
Q

What is Papillon Lefevre syndrome?

What is the inheritence?

A 
Rare AR syndrome, Cathespin C gene
3 Ps;
Palmoplantar hyperkeratosis (PPK)
Knuckle Pads
Severe Periodontal disease with early loss of all teeth
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8
Q

What are the X-linked dominant genodermatoses?

A

Oh Conrad is girly and tries to be dominant but is a BIG Child
X-linked dom - several mainly affect girls
Oro-facial-digital syndrome (usually females)
Conradi-Hunerman (usually females)
Bazex syndrome
Incontinentia pigmenti (gonadal mosaic form reported)
Goltz syndrome
CHILD (usually females)

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9
Q

What is SCARF syndrome?

A 
Skeletal abnormalities
Cutis laxa - generalized and Craniosynostosis
Ambiguous genitalia
Retardation
Facial abnormalities
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10
Q

What is centrofacial lentiginosis syndrome?

A

Rare AD disease
Triad of;
Lentigines - usually horizontal band across mid face
Neuropsychiatric problems (mental retardation, epilepsy)
Dysraphic anomalies – significant congenital neural tube defect

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11
Q

What is McCune-Albright syndrome?

What is the gene and inheritence?

A

Post zygotic muattion in GNAS1 gene
not inherited
5 Ps
Post zygotic mutation
Need 2 out of 3 of;
Pigmentation - CALMs, large Coast of Maine macule esp on side w/ affected bones
Precocious puberty - esp girls, 50% before age 5
Polyostotic fibrous dysplasia (bones replaced by fibrous tissue - weak, fractures)
+/- Primary hyperthyroidism - 20-30%, Cushings
Need endo and ortho, good prognosis usually

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12
Q

What is Dowling-Degos disease?
What is the gene and inheritence?
What are the variants?
what is the treatment?

A

AKA Reticular pigment anomaly of flexures
sporadic or AD types
Keratin 5 gene mutation
onset childhod, ofetn present in 20s-30s, F>M
Progressive hyperpigmentation of flexures - can be macules/papules/hyperkeratotis lesions or reticulate
Can be;
- pigmented or non-pigmented follicular papules
- Comedone-like lesions on back and neck
- Pitted perioral/facial scars
- Epidermoid cysts
- Hypopigmented macules
- Can be assoc w/ Hidradenitis suppurativa
Variants:
- Localised DD
- Generalised DD
- Galli-Galli disease (DDD w/acantholysis)
- Reticulate acropigmentation of Kitamura
- Haber syndrome
Treatment:
- Hydroquinone
- Tretinoin
- Adapalene
- TCS for itch
- Ablative Er:YAG laser

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13
Q

What are Kitamura disease and Haber syndrome?

A 
Variants of Dowling-Degos disese
Reticulate acropigmentation of Kitamura;
- AD
- Pigmented macules on dorsal hands and feet - spread
- Palmar pits
- Disrupted dermatoglyphics

Haber syndrome;

  • Rosacea-like photosensitive erythema of face
  • Pigmented macules and pigmented warty-seb K-like lesions on trunk
  • May be other DDD skin lesions
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14
Q

What is Hermansky-Pudlak syndrome?

A

Rare AR disorder of melanosome biogenesis and albinism variant
common in Puerto Rico
9 subtypes HPS 1-9
Oculocutaneous albinism
bleeding diathesis (abnormal plt function)
Interstitial lung fibrosis (some types, often fatal)
Granuloamtous colitis
renal failure
cardiomyopathy
Risk of hemophagocytic lymphohistiocytosis (cytokine storm involving lymphocytes and macrophages)

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15
Q

What is Griscelli syndrome?

A

Rare AR disorder of melanosome biogenesis
3 subtypes - different genes
partial albinism with fair skin and silvery hair
immunodeficiency, neutropenia and recurrent infections
Low plts
Hairs show large irreg melanin granules under light microscopy but bland white under polarized light
NB GRisceLli = Large GRanules
Risk of hemophagocytic lymphohistiocytosis
Rx with BMT

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16
Q

What is Menkes disease (Menkes Kinky hair disease)?

What is inheritence?

A

XLR - mainly seen in males
Defective copper absorption
Normal development until 2-3 months then gradually manifest failure to thrive, lethargy, hypothermia, hypotonia, seizures, developmental delay, anaemia, bony abnormalities.
Skin: diffuse cutaneous pigmentary dilution (decreased activity of tyrosinase – copper dependant enzyme)
Hair alopecia, pili torti, monilethrix, trichorrhexis nodosa, hair light in colour, sparse fragile and kinky,
Ix: low serum copper and ceruloplasmin, microscopic hair shaft findings
Prognosis: poor; life expectancy 3-5 yrs
subcut copper injections can help in up to 50%

17
Q

What is Phenylketonuria (PKU)?

A

AR leading to deficiency of phenylalanine hydroxylase (conversion of amino acid phenylalanine to tyrosine)
One of most common inborn errors of metabolism
Leads to:
High levels of phenylalanine in patients on phenylalanine-containing (normal) diet - toxic to CNS Progressive developmental delay, mental retardation, seizures, psychiatric symptoms
Relative deficiency of tyrosine - diminished melanin production resulting in;
Diffuse pigmentary dilution
Blonde hair and blue-eyes
Non-specific dermatitis
Need life long low phenylalanine diet

18
Q

What is homocysteinuria?

A

AR
Reversible hypopigmentation due to tyrosinase inhibition by homocyteine
Classic presentation: fine blond hair, blue eyes, and fair skin
however,

19
Q

What is Piebaldism?

What is the gene and inheritence?

A

Rare AD mutation in KIT gene. Often Fam Hx
disorder of tyrosine kinase receptor on melanocytes results in error in migration
fixed bilateral leukoderma present at birth
favours central trunk and forehead and mid-extremeties
‘Milk-white’, well circumscribed
90% have leukoderma of mid ant hairline w/ white forlock
can be islands of normal or hyperpigmented skin in white areas
Poliosis (depigmented patch of hair) of eyelashes and brows as well as scalp hair common
Most important DD is Waardenburg’s - exclude
Rx
Strict photo protection
Camouflage
Autologous minigrafts/autologous cultured melanocytes
Skin grafts, Melanocyte transplant by shaving off the top layer of skin (epidermis) and replacing it by shaved-off skin from another site

20
Q

What is Waardenburg’s syndrome?

What is the gene and inheritence?

A

Rare AD or AR condition
Disorder of neural crest development
multiple genes identiifed
4 clinical variants - WS1-4
All have combinations of features;
HIDDEN P
Heterochromia Irides (partial or total)
Dystopia canthorum (increased dist btn inner canthi)
Deafness (congenital)
medial Eyebrow hyperplasia (synophrys-monobrow)
broad Nasal root
Piebaldism w/ white forlock
Histo - absent or minimal melanocytes
o WS1 - classic (PAX3 gene)
o WS2 - same as classic but No dystopia canthorum, deafness more common (MITF, SOX10)
o WS3 - same as classic but upper limb abnormalities (hypoplasia, syndactyly) (PAX3)
o WS4 - same as classic but associated with Hirschsprung disease (EDRB, SOX10)

Tietz syndrome
Rare AD syndrome - allelic to WS2 (MITF)
o Diffuse pigmentary dilution of skin and hair
o Deafness and hypoplasia of eyebrow
o Eyes blue but no photophobia or nystagmus

21
Q

What is albinism-deafness syndrome?

A

Rare XLR condition
Completely amelanotic skin at birth but pigmented macules develop
Hair remains white
Congenital deafness

22
Q

What is self healing squamous epitheliomas of Ferguson-Smith?

A

Rare AD disease
mutation in TGFBR1 gene (transforming growth factor Beta receptor one)
Present with muliple SCC or KA -like lesions at a young age (in 20s) , often with minimal sun exposure Hx
Posiitve family history
lesions heal spontaneously even those that appear aggressive on histo
Still treat lesions to aid cosmesis - cryo, intalesionsal 5FU or bleomycin
Retinoids to reduce new lesion development

23
Q

What are the features of pachyonychia congenita?

what are the genes involved?

A

AD mutations of keratin - 6a, 6b, 16, 17
6a or 16 - type 1 (Jadasshon-Lewandowsky)
6b or 17 - type 2 (Jackson-Lawler)
Types 1 and 2 and eponyms being phased out now - identify gene involved instead
Painful focal non-epidermolytic PPK and plantar hyperhidrosis
Wedge shaped hypertrophic nail dystrophy (subungual hypekeratosis)
Oral leukokeratosis (resembles white sponge naevus)
Hoarse voice
Follicular keratoses (keratosis pilaris)
Verucous lesions of knees, elbows, buttock, ankles and pop fossae
Steatocystoma multiplex (& pilosebaceous cysts)(K17 especially but can be seen in other mutations)
Vellus hair cysts (mainly type 2)
Epidermoid cysts (mainly type 2)
Pili torti (rarely) or milia (rarely) (mainly type 2)
Pre/Natal teeth (type 2 not 1 – K17 or 6a only)

24
Q

What is Netherton’s syndrome?

A 
AR, SPINK5 mutation - LEKTI deficiency
can present as collodion baby
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
25
Q

what is Aperts syndrome?

A

rare AD disease with major cranial and other bony deformities and high risk of nodulocystic acne
- craniosynostosis - early fusion of skull bone results in skull vault deformity
Mosaic form can cause comedo naevus

26
Q

What is Anhidrotic ectodermal dysplasia?

A

Mutation in Ectodysplasin A
usually XLR can be AD or AR
1. Hair;
Sparse or absent scalp hair, usually blonde, hypotrichosis of body hair
Hypotrichosis, scanty/absent eyebrows + lashes
2. Teeth;
Hypodontia, conical (peg-shaped) teeth, deciduous teeth persist
3. Nails;
Usually Normal
4. Sweating;
Markedly reduced, may get hyperthermia
Skin;
May have collodion-like membrane smooth & dry, may have eczema
Periorbital hyperpigmentation
Absent or supernumerary nipples
Sebaceous hyperplasia
Others;
Characteristic facies – thick lips, saddle nose, frontal bossing, wrinkles around eyes
Frequent respiratory infections/ otitis media. Hoarse voice due to chronic laryngitis (as few mucous glands)
Photophobia, deafness
Carrier (mum) may have dry hair and skin and missing teeth

27
Q

What is Hidrotic ectodermal dysplasia?

Clouston syndrome

A

AD
GJB6 gene for Connexin 30
1. Hair;
Brittle, wiry hair, slow growing, patchy alopecia, usually blonde
Hypotrichosis, scanty/absent eyebrows + lashes
2. Teeth;
Usually Normal (sometimes sometimes hypodontia, widely spaced teeth)
3. Nails;
White nails in infancy, Become thickened, distal separation, paronychia
4. Sweating;
Normal or increased
Skin;
Others;
Dry, scaly skin, may be hyperpigmented
Diffuse PPK/ stippling with transgrediens
Blepharitis, conjunctivitis, cataract, myopia
Differentiate from pachyonychia congenita – has normal hair

28
Q

What is Cockayne syndrome?

A

Rare AR disease - defect in UV DNA repair
A and B subtypes, A is milder
Short stature
Mental retardation
Photosensitivity
Premature skin aging
Long limbs
Large hands, feet and ears (Mickey mouse)
Ocular abnormalities – optic atrophy, retinal degeneration, cataracts
Extensive demyelination
Child usually looks normal from first year then develops butterfly malar rash
No increase in skin or other cancers or infection
on ave die age 12

29
Q

What are the features of Brooke-Spiegler syndrome ?

A

AD
Mutation in CYLD gene
Tri Cilly Spirals
Multiple;
Trichoepitheliomas (can turn into BCC)
Cylindromas (can turn into cylindrocarcinoma)
Spiradenomas (can turn into spiradenocarcinoma)
Tumours can turn malignant but no other associated malignancies

30
Q

What are features of Pachydermoperiostosis?

A

AD; HPGD gene for 15-hydroxyprostaglandin dehydrogenase (15-PGDH)
Rare disorder characterized by clubbing of the fingers, thickening of the skin of the face (pachyderma), and excessive sweating (hyperhidrosis).
Typically appears during childhood or adolescence, often around the time of puberty, and progresses slowly for about ten years.
New fibrous bone growth (periostosis), especially of the ends of the long bones
Thickened scalp resembles cutis vertices gyrata

31
Q

What are the X-linked recessive genoderms?

A 
‘CHADS Kinky WIFE CO’
Chronic granulomatous disease
Hunters Dx
Anhidrotic ectodermal dysplasia
Dyskeratosis congenita
SCID
Menke’s Kinky hair syndrome
Wiskott-Aldrich syndrome
Icthyosis - X-linked recessive (XLRI) 
Fabry’s Dx
Ehlers Danlos 5 and 9
Chondrodysplasia punctata
Occular albinism

Genodermatoses Dan (3 decks)

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