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Genodermatoses Melissa > pigment changes > Flashcards

pigment changes Flashcards

1
Q

Major criteria TS

Fun Fun Fun Holiday
So, My Crazy Ratbag Cousin Likes the Silly Season

A

Major Features

Facial angiofibromas or forehead plaque
Non-traumatic ungual or periungual fibroma
Hypomelanotic macules (more than three)
Shagreen patch (connective tissue nevus)
Multiple retinal nodular hamartomas
Cortical tubera        Renal angiomyolipoma    Cardiac rhabdomyoma, single or multiple Lymphangiomyomatosis     Subependymal nodule
Subependymal giant cell astrocytoma
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2
Q

how many major and minor criteria needed for TS

A

Definite TSC: Either 2 major features or 1 major feature with 2 minor features

Probable TSC: One major feature and one minor feature

Possible TSC: Either 1 major feature or 2 or more minor features

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3
Q

Minor Criteria

DR
BCG
nightly cries
R&R

A 
D Multiple randomly distributed pits in dental enamel
    R Hamartomatous rectal polyps
    B Bone cysts
    C Cerebral white matter migration lines a,d,e
    G Gingival fibromas
    N Non-renal hamartoma
C "Confetti" skin lesions    
R Retinal achromic patch
        R Multiple renal cysts
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4
Q

Oculocutaneous albinism Type 1 A

1) AKA
2) Mutation, inheritance

A

1) tyrosine negative albinism

2) AR, TYR gene

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5
Q

OCA1 key features

A

Skin: generalised pink-white colour, solar Ks, pink red naevi, SCC>BCC>melanoma
Snow white hair
Blue-grey irises, severe nystagmus, photophobia, impaired visual acuity, prominent red reflex, strabismus, foveal hypoplasia.

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6
Q

oculocutaneous albinism type 2

1) AKA
2) Inheritance

A

1) tyrosinase positive albinism

2) AR P gene on 15q

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7
Q

T/F in OCA2 there is a normal no of melanocytes, but decreased melanin

A

T

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8
Q

Colour of hair in OCA2

A

Cream-yellow/brown

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9
Q

T/F in OCA2 eye symptomatology usually worsens with age

A

F improves.

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10
Q

Hermansky-Pudlak syndrome

Gene. Where?

A

AR HPS1 or AP3B1

Puerto Rico, Holland

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11
Q

Features of hermansky pudlak

A

Skin: pigment dilution, pigmented naevi, increased risk of skin cancer.
Petechial, ecchymosis
Cream - red-brown hair
Photophobia, nysstagmsu, strabismus
Epistasis, bleeding.
Pulmonary fibrosis, granulomatous colitis, cardiomyopathy

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12
Q

Chediak-Higashi syndrome

Gene

A

AR, LYST

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13
Q

Chediak Higashi syndrome

features

A

Skin: light cream-grey colour , recurrent bacterial infections
Hair: light blonde with silver sheen
Eyes: photophobia
Reps tract: bacterial sinusitis, pneumonia
HSM, lymphoma
CNS: progressive neurologic deterioration with ataxia, muscle weakness, sensory loss, seizures
Accelerated phase: lymphohistiocytic proliferation with infiltration of liver, spleen and lymph nodes, reduced cells in fbc.

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14
Q

Prognosis of chediak-higashi

A

Death by late childhood due to overwhelming infection or haemorrhage

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15
Q

What is the lab finding in chediak-higashi

A

Giant granules in neutrophils

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16
Q

Griscelli syndrome

inheritance

A

AR

17
Q

Features of griscelli

A 
pigmentary dilution, cutaneous pyogenic infections, abscesses. 
Silver grey hair 
Neutropenia, thrombocytopenia
HSM 
T and B cell immunodeficiency 
Neurological deterioration.
18
Q

Piebaldism aka
Gene
inheritance

A

Familial white spotting
AD
Ckit

19
Q

Features of piebaldism

A

White forelock
depigmented patches on midforehead, central eyebrows, neck, anterior trunk, mid extremities. Spares hands, feet, back,, shoulders, hips.

20
Q

Waardenburg syndrome
Inheritance
Gene

A

AD
Pax3 gene, MITF gene, SOX10 and enthoethelin genes
4 distinct types

21
Q

waardenburg syndrome features

A 
depigmented patches on body
White forelock (
22
Q

What is dystopia canthorum

A

Inner canthal distance/outer canthal distance >0.6

23
Q

Hypomelanosis of ito is inherited

A

F

24
Q

Associations with hypomelanosis of ito

A 
Unilateral, bilateral whirled marble hypopigmentation in blaschkos lines
Alopecia
CNS - seizures, retardation
Eyes: hypertelorism, strabismus
Scoliosis, limb length discrepancy
anodontia, dental dysplastic.
25
Q

What is Bloch-Sulzberger syndrome

A

IP

26
Q

Gene and inheritance of incontinentia pigmenti

A

X linked dominant

NEMO gene

27
Q

Stages of IP & when they occur

A

1: vesicular: 1-2 weeks
2: verrucous 2-6 weeks.
3: hyperpigmentation 3-6 months
4: hypopigmentation 2nd-3rd decade.

28
Q

Non skin features of IP

A

Scarring alopecia
Pegged teeth
anodontia
Eyes: strabismus, cataracts, optic atrophy, retinal vascular changes with secondary blindness, retrolental mass
Seizures, mental retardation, spastic paralysis

29
Q

Referrals for IP

A

Dentist
Neurologist
Ophthalmologist
gen pads

30
Q

Blood findings in IP

A

Peripheral eosphinolia.

spongiotic eosinophilia on bx

31
Q

Congenital causes of hypopigmentation

A 
OCA
Hermansky-pudlak
Chediak-Higashi
Gricelli
Piebaldism
Waardenburg
IP
Hypomelanosis of ito
32
Q

Referrals for waardenburg syndrome

A

Audiologist, ENT
ophthal, dentist
Gastro, surgeon

33
Q

Waardenburg syndromes white forelock may fade over 1 year

A

T

34
Q

LEOPARD syndrome

A

Lentigines, ecg defects, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, growth retardation, deafness.

35
Q

Things that have café au lait macules

A 
NF1 and 2
TS
LEOPARD
McCune Albright 
Fanconi anaemia
36
Q

Carney complex

A

name: blue naevi, melanocytic naevi, atrial myxomas, Myxomas, ephelidies.

Also testicular tumours

37
Q

McCune-Albright inheritance

A

Sporadic GNAS1 gene

38
Q

Features of McCune Albright

A

Large, segmental coast of Maine border macula
polyostotic fibrous dysplastic. (bowing, recurrent fractures, limb length), diffuse sclerosis at base of skull.
Precocious puberty
Hyperthyroidism

Genodermatoses Melissa (7 decks)

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