pigment changes Flashcards
Major criteria TS
Fun Fun Fun Holiday
So, My Crazy Ratbag Cousin Likes the Silly Season
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
how many major and minor criteria needed for TS
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
Minor Criteria
DR
BCG
nightly cries
R&R
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 cystsOculocutaneous albinism Type 1 A
1) AKA
2) Mutation, inheritance
1) tyrosine negative albinism
2) AR, TYR gene
OCA1 key features
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.
oculocutaneous albinism type 2
1) AKA
2) Inheritance
1) tyrosinase positive albinism
2) AR P gene on 15q
T/F in OCA2 there is a normal no of melanocytes, but decreased melanin
T
Colour of hair in OCA2
Cream-yellow/brown
T/F in OCA2 eye symptomatology usually worsens with age
F improves.
Hermansky-Pudlak syndrome
Gene. Where?
AR HPS1 or AP3B1
Puerto Rico, Holland
Features of hermansky pudlak
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
Chediak-Higashi syndrome
Gene
AR, LYST
Chediak Higashi syndrome
features
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.
Prognosis of chediak-higashi
Death by late childhood due to overwhelming infection or haemorrhage
What is the lab finding in chediak-higashi
Giant granules in neutrophils
Griscelli syndrome
inheritance
AR
Features of griscelli
pigmentary dilution, cutaneous pyogenic infections, abscesses. Silver grey hair Neutropenia, thrombocytopenia HSM T and B cell immunodeficiency Neurological deterioration.
Piebaldism aka
Gene
inheritance
Familial white spotting
AD
Ckit
Features of piebaldism
White forelock
depigmented patches on midforehead, central eyebrows, neck, anterior trunk, mid extremities. Spares hands, feet, back,, shoulders, hips.
Waardenburg syndrome
Inheritance
Gene
AD
Pax3 gene, MITF gene, SOX10 and enthoethelin genes
4 distinct types
waardenburg syndrome features
depigmented patches on body White forelock (
What is dystopia canthorum
Inner canthal distance/outer canthal distance >0.6
Hypomelanosis of ito is inherited
F
Associations with hypomelanosis of ito
Unilateral, bilateral whirled marble hypopigmentation in blaschkos lines Alopecia CNS - seizures, retardation Eyes: hypertelorism, strabismus Scoliosis, limb length discrepancy anodontia, dental dysplastic.
