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Flashcards in Genoderms Syndrome Deck (257)
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181

Cowdens + brain tumor

Lhermitte-Duclos

182

What is sipple syndrome?

MEN2a

183

What cutaneous finding in sipple syndrome

Amyloidosis

184

What is Wermer syndrome

MEN1a

185

What is the side effect from Selsun Blue shampoo called?

Xanthotrichia (yellow hair)

186

Two syndromes with follicular atrophoderma:

Bazex Syndrome
Conradi-Hunermann-Happle Syndrome

*Rombo has atrophoderma vermiculatum which is the same thing just limited to ice-pick scars on the cheeks)

187

Multiple BCCs
Hypotrichosis
Hypohidrosis
Follicular atrophoderma (dorsal hands and feet)

Bazex Syndrome

(*XLD)

188

Inheritance pattern of Conradi-Hunermann-Happle

XLD

189

CHIRPE

Gardner syndrome (congenital hypertrophy of the retinal pigment epithelium)

190

What type of cancer (besides GI) are patients with Gardner syndrome

Papillary thyroid cancer
Hepatoblastoma
Adrenal adenoma

191

Supranumerary teeth

Gardners

192

Two syndromes with defect in Recql2

Bloom syndrome
Werner (adult progeria)

193

What do patients with Progeria die from?

Cardiovascular complications

194

"Nuclear" blebbing

Progeria

195

Abnormal protein lamin A causes which genoderm?

Progeria

196

Another name for childhood onset Progeria?

Hutchinson-Gilford Syndrome

197

Hutchison Gilford Syndrome

Progeria

198

Another name for adult progeria

Werner Syndrome

199

Retained primary teeth

Hyper IgE (Jobs Syndrome)

200

Mutation in JOBs syndrome

AD form - STAT3 mutation

AR form - TYK2

201

Cold abscesses
Papulopustular eczema
Coarse facies
Retained primary teeth
Brittle bones

Hyper IgE syndrome (Jobs)

202

Gene defect in Chronic Granulomatous Disease

CYBB (cytochrome B subunit) recurrent staph infections

203

CYBB gene in Chronic Granulomatous disease encodes what protein

NADPH (inhibits the respiratory burst so cant defend from staph infections)

204

What is the inheritance pattern for chronic granulomatous disease

XLR

205

Thrombocytopenia
Eczema
Recurrent bacterial infections

Wiskott-Aldrich Syndrome

206

What type of malignancy does Wiskott-Aldrich Syndrome get?

NHL in 20% of people

207

What antibodies are low in Wiskott Aldrich?

Low IgM

208

Dystopia canthorum

Wardenburg (especially type I)

209

Dystopia canthorum
Synophrys
Broad nasal root
Heterochromia iridis

Waardenburg (Type I) - also obvious see a white forelock

210

Waardenburg type one gene defect

PAX3

*PAX MIT(tens) PAX SOx