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Derm > Genoderm > Flashcards

Genoderm Flashcards

1
Q

Epidermolytic ichthyosis - genes

A

KRT1

KRT10 - no hands

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2
Q

Ichthyosis vulgaris - gene

A

FLG/ profillagrin

Semi autosomal dominant

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3
Q

Steroid sulfurase deficiency - gene

A

X linked recessive

STS gene deletion of Xp22.31

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4
Q

Gene associated with pilomatricoma and carcinoma

A

CTNNB1

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5
Q

Langerhanscell histiocytosis gene

A

BRAFV600E

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6
Q

Diagnostic criteria for NF1

A 
CANFOOL
Cafe au lait macules - >6, >5 mm pre-pubertal or >15 mm post
Axillary freckling
Neurofibromas - X2 any, X 1 plexiform
First degree relative
Osseus lesions
Optic gliomas
Lischn nodules
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7
Q

Epidermal naevus epidemiology

A

1 in 1000 infants

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8
Q

Epidermal naevus clinical features

A
  • 80% occur within first year of life
  • Most commonly single linear
  • Well circumscribed, hyperpigmented papillomatous papules or plaques
  • Asymptomatic
  • Rarely - hypopigmented
  • Can thicken and become more verrucous - particularly over joints
    Rarely - malignant change, if so will be post-puberty
  • Location: commonly trunk and neck, follows lines of Blaschko
  • Naevus verrucosus: warty appearance
  • Naevus unius lateris: extensive, unilateral plaques, often involving the trunk
  • Ichthyosis hystrix: extensive bilateral involvement, also on the trunk
  • Epidermal naevus syndrome: epidermal naevi with other anomalies - CNS, MSK
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9
Q

Epidermal naevus pathogenesis (genes and what is it)

A
  • Thought to originate from pluripotent cells in the basal layer of the embryonic epidermis, harmatomous process involves epidermis and at least some of papillary dwermis
  • Possible mutations:
    • Mutations identified in some: KRT1, KRT10, ATP2A2
    • Common: FGFR3 mosaicism for activating mutations
    • Have also found PIK3CA mutation
    • RAS mutations have been observed in patients with keratinocytic epidermal naevi (HRAS>NRAS>KRAS)
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10
Q

Epidermal naevus histology

A
  • epidermal hyperplasia
  • hyperkeratosis
  • acanthosis
  • papillomatosis
  • variable parakeratosis
  • focal acantholytic dyskeratosis
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11
Q

Ddx epidermal naevus

A
  • Naevus sebaceous
  • Organoid naevi
  • Lichen striatus
  • Linear and whorled naevoid hypermelanosis
  • Porokeratotic eccrine ostial and dermal duct naevus
  • Linear LP
  • X-linked dominant chondrodysplasia punctata
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12
Q

Treatment epidermal naevus

A
  • Full thickness excision: recurrence is common, and can be complicated by scarring
  • Topical therapies with limited benefit: steroids, retinoic acid, tars, anthralin, 5-FU, podophyllin
  • Systemic therapy: retinoids –> decreases thickness
  • Laser ablation –> however to be effective must induce scarring
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13
Q

PWS/Sturge Weber mode of inheritance and gene

A

GNAQ –> Q class G protein alpha subunits
Mosaic, with somatic mutations in lesional skin
Activating mutation

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14
Q

PWS/Phakomatosis pigmentovascularis type 2 or overgrwoth of an extremity

A

GNA11 –> Q class G protein alpha sub units
Mosaic, with somatic mutations in lesional skin
Activating mutation

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15
Q

Ataxia telangiectasia genetics

A

ATM gene - ATM protein is similar to phosphoinositol 3 kinase - regulates cell cycle, DNA repair, p53
Autosomal recessive
Loss of function

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16
Q

Capillary malformation-AVM genetics

A

RASA1 and EPHB4
loss of function - p120-Ras-GAP protein and EPH receptor B4 in endothelial cells - interact and modulate MAPK signaling growth factor receptors
Autosomal dominant

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17
Q

Cutaneous and mucosal venous malformations and Blue rubber bleb naevus syndrome genetics

A

TEK
Gain of function of TIE-2 - an endothelial cell-specific tyrosine kinase receptor that binds angiopoietins
Auutosomal dominant
Blue rubber bleb is mosaic

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18
Q

Venous malformations genetics

A

TEK, PIK3CA
Gain of function of TIE-2 –> binds angiopoietins
PIK3CA - activates the AKT/mTOR pathway

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19
Q

Lymphatic malformations genetics

A

PIK3CA - gain of function
TIE2 –> binds angiopoietins
PIK3CA activates the AKT/mTOR pathway
Mosaic, with somatic mutations in lesional tissue

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20
Q

Hereditary lymphoedema genetics

A

GJC2
Loss of function: connexin 47 in gap junctions of lymphatic vessels
autosomal dominant

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21
Q

CADASIL genetics

A

NOTCH3

Accumulation of NOTCH-3 protein in vascular smooth muscle cells

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22
Q

Phakomatosis pigmentovascularis 1

A

Epidermal naevus + port wine stain

<5% of PPV cases

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23
Q

Phakomatosis pigmentovascularis 2

A

Mongolian spots + PWS
75% of PPV cases
Other associations: naevus anaemicus, hypotrichosis, lipohypoplasia, hypoplastic nails

24
Q

Phakomatosis pigmentovascularis 3

A

Naevus spilus + naevus roseus

Other: naevus anaemicus, lymphoedema, hypotrichosis

25
Q

Phakomatosis pigmentovascularis 4

A

CALM + capillary malformation

Other: naevus anaemicus, naevoid hyper or hypopigmentation, naevus sebaceous

26
Q

Phakomatosis pigmentovascularis 5

A

Dermal melanocytosis + cutis marmorata telangiectatica congenita

27
Q

Sjogren larsson epi

A
  • Autosomal recessive
  • Prevalence <1 in 100 000
  • Most common in northern Sweden
28
Q

Sjogren larsson genetics and path

A
  • Deficiency of microsomal fatty aldehyde dehydrogenase enzyme
  • Mutations in ALDH3A2
  • results in membrane alterations due to accumulation of fatty alcohol or fatty aldehyde modified lipids and proteins
  • retarded myelination and variable degree of dysmyelination in periventricular white matter
29
Q

Sjogren larsson clinical

A
  • Cutaneous:
    • Birth: erythema, hyperkeratosis, scaling. Rarely colloidon.
    • Hyperkeratosis then becomes darker
    • Ichthyosis varies from fine, white scales to larger, plate-like scales
    • Prediliction: lower abdomen, neck and flexural areas
    • Palmoplantar keratoderma - 70% patients
    • Lichenification of flexural areas
  • Extra-cutaneous:
    • Ophthal: perifoveal glistening white dots in the ocular fundus - juvenile macular dystrophy
    • CNS: delayed motor development, abnormal gait, pyramidal signs, spasticity, contractures. Seizures in 40%. MRI: white matter disease
30
Q

Sjogren larrson diagnosis

A
  • Histopath: orthokeratotic hyperkeratosis, papillomatosis and moderate acanthosis, well-developed granular layer
  • Cultured skin fibroblasts/keratinocytes/leukocytes have reduced or absent FALDH activity
  • SLS in detection of elevated free fatty alcohol in cultured fibroblasts and plasma also helpful
  • Preferred method of diagnosis is DNA based molecular testing
  • Can do pre-natal molecular diagnosis from CVS or amniocentesis
31
Q

Refsum epidemiology and path

A
  • Super rare
  • Autosomal recessive - PAHX gene on 10p, and PEX7 on 6q
  • M=F
  • Deficiency in phytanoyl-CoA hydroxylase –> accumulation of phytanic acid in the serum
32
Q

Refsum clinical

A
  • Cutaneous: mild ichthyosis, begins after neurological symptoms
  • CNS: ataxia, progressive peripheral polyneuropathy
  • Eyes: retinitis pigmentosa with salt and pepper pigment
  • ENT: deafness
  • Arrhythmias, cardiac failure
33
Q

Refsum diagnosis

A
  • Cultured fibroblasts: increased serum phytanic acid

- DNA mutational analysis if mutation known

34
Q

Refsum management

A
  • Dietary restriction of phytanic acid - decrease green vegetables, dairy products and ruminant fats
  • Plasma exchange removal of phytanic acid
  • If diet and exchange instituted early on, progression of disease can be halted
35
Q

Nail patella syndrome genetic mutation

A

LMX1B, AD
Aplastic or hypoplastic nails and patella, and renal issues - 40% nephropathy, 8% renal insufficiency
Iliac horns on pelvic x-ray
triangle shaped lunula

36
Q

Goltz mutation and epi

A

PORCN ++ females

37
Q

Goltz clinical

A
  1. Cutaneous: worm like atrophoderma, fat herniation, raspberry papillomas
  2. Other ectodermal: nail dystrophy, sparse hair, dentition (hypodontia)
  3. Eyes: unilateral, microphthalmia etc
  4. Bone: 80% limb abnormalities
  5. Dysmorphic facies - pointed chin, large malformed ears, etc
38
Q

Dyskeratosis congenita main features and pathogenesis

A

Telomere shortening
DYC 1 + other mutations

  1. Reticulate hyperpigmentation - generalized
  2. Oral leukoplakia
  3. Nail dystrophy - pterygium
  4. BM failure
  5. Incr risk malignancy: SCC, AML, GI malignancy
  6. Other: liver cirrhosis, lung fibrosis, cryptorchidism, hypogonadism, incr risk infections, short stature, developmental delay
39
Q

Dowling Degos clinical and pathogenesis

A 
KRT5 mutation, M>F, AD
Clin:
onset 30s-40s - flexural reticulate hyperpigmentation
open comedones
cysts 
acne
HS
assoc: HS, SCCs, KAs, nail dystrophy, seb ks, cysts
40
Q

Chediak Higashi main clinical features

A 
NUPBOIL
Neuro - DD, etc
Ulcerations - PG, oral ulceratio, etc
Pigment - bronze colour
Bleeding - bruises, ecchymoses
Ocular - nyastagmus, strabismus, no change in visual acuity
Infections - skin, resp
Lymphoproliferative - HLH sx, and also LYST gene mutation
41
Q

Chronic granulomatous disease main features

A

M>F 90%
Reduced NADPH
Clinical:
1. Cutaneous: staph infections, sterile cutaneous, lupus like piccture
2. Extra-cutaneous: lymphadenitis, granulomas elsewhere - GIT - looks like IBD, can basically be anywhere

42
Q

Omenn syndrome/SCID main features

A

Defective cell and humoral immunity
X linked
Omenn: RAG1 and RAG2 mutation
SCID - ADA important one (associated with DFSP)
Clinical:
1. Cutaneous: maternofoetal GVHD - seb derm, morbilliform, then eczema, erythroderma, alopecia. ADA linked with DFSP - multiple in 10s-20s
2. Chronic diarrhoea, failure to thrive, HSM, LN, recurrent infections
Need to diagnose early before give blood products etc
Rx: IVIG, HSCT, ADA replacement

43
Q

Wiskott Aldrich Syndrome main features

A 
WASP mutation
X linked - boys
Clinical - TIME
Thrombocytopaenia - bleeding
Infections - cutaneous, resp tract, CNS, etc
Malignancy - lymphoma
Eczema
44
Q

Hermansky Pudlak main features

A

BLOC 1/2/3 mutation

Pigmentary dilution
Ulcers – knife cut ulcers and granulomas intertriginous
Decreased vision
Lungs - pul fibrosis
AR
K vitamin K not working à bleeder
45
Q

Rothmund thompson gene and features

A 
RECQL4 mutation
THOMPSON:
- Teeth abnormalities
- Ocular: cataracts
- Microcephaly
- Photosensitivity, poikiloderma, perforating
- Short
- Osteosarcoma + other cancers
- No hair
46
Q

Ddx for photosensitive genodermatoses

A 
XP
Rothmund Thompson
Bloom Sx
Cockayne Sx
Trichothiodystrophy
47
Q

Cockayne sx gene and features

A
  • Autosomal recessive
  • defective transcription coupled NER –> inability to recover mRNA synthesis after exposure to UVR
  • 2/3 have mutation in ERCC6, 1/3 in ERCC8
  • Don’t get skin cancers –> cells with low level damage are eliminated

Clinical

  • Cutaneous:
    • Photosensitivity, pigmented macules
    • Loss of subcutaneous fat
    • No increased risk of malignancy
    • Alopecia
    • Premature ageing
    • Hypohidrosis
    • Acral oedema
    • Stellate scars
    • Cold extremities
  • CNS:
    • Basal ganglia calcification
    • Sensorineural hearing loss
    • Intention tremor
  • Ocular
    • Pigmentary retinal degeneration - ‘salt and pepper’
    • Cataracts
    • Nyastagmus and strabismus
  • Dysmorphic facies
    • Sunken eyes due to loss of adipose tissue
    • Progeria
    • Beaked nose
  • Ortho
    • Stooped posture
    • Cachetic dwarfism
    • Joint contractures
48
Q

Bloom syndrome gene and features

A 
BLM mutation
BLOOM:
- Butterfly rash
- Leukaemias, lymphomas and carcinomas
- Oral: lower lip blistering
- Otic and pulmonary infections
- Macules: cafe aut lait macules
49
Q

Goltz syndrome gene and features

A

X linked, females only, PORCN

  1. Linear dermal atrophy, fat herniations, raspberry like papillomas
  2. 80% limb problems - skeletal
  3. Ocular
  4. Nail
  5. Hair
  6. Dysmorphic face
50
Q

EN syndrome

A

FGFR/PIK3CA/AKT1 mutation or RAS/MAPK mutation
Cutaneous: EN, seb naevus, dyspigmentation, CALM, aplasia cutis congenita
CNS: hemimegalencephaly, seizures, DD
Ocular: coloboma, lipodermoids, etc
Skeletal: Ricketts, asymmetry, kyphoscoliosis etc
Other: cardiac, malignancy

51
Q

Genes for EB

A

EB simplex - KRT 5 and 14
Junctional EB - laminin 332
Dystrophic EB - collagen 7

52
Q

Hypohidrotic ectodermal dysplasia gene and features

A 
Ectodysplasin - X linked most commonly
1. Sparse hair
2. Hypodontia - conical teeth
3. Reduced ability to sweat
4. Cutaneous: atopy, loss of dermatoglyphs, colloidon baby like
5. Dysmorphic facies
NORMAL NAILS
53
Q

Hypohidrotic ectodermal dysplasia with immune deficiency gene and features

A 
NEMO, AD
Milder than without immune def 
1. Hypotrichosis
2. Hypodontia
3. Inability to sweat
4. Cutaneous: seb derm, erythrodermic
5. Pyogenic infection
54
Q

Hidrotic ED - Clouston - gene and features

A

GJB6 mutation AD
Hair: wiry, brittle, pale
Nails: milky white
PPK - pebbled skin

55
Q

Monilethrix gene

A

AD, Hb1 and 6 (KRT 81 and 86)

Derm (57 decks)

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