Genoderms Syndrome Flashcards Preview

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Flashcards in Genoderms Syndrome Deck (257)
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151

Oral findings in Darier

Cobblestoning of the oral and anogenital mucosa

152

Atrophoderma vermiculata
BCC
Milia
Hypotrichosis
Trichoeps
Vasodilation with cyanosis

Rombo

153

"String of pearls" over eyelids
Hoarse voice
Bean-shaped temporal/hippocampal calcifications
Large wooden tongue
Waxy yellow papules of the face

Lipoid Proteinosis
*ECM-1 gene

154

ECM-1 gene

Lipoid Proteinosis (ECM-1 gene also in lichen sclerosis)

155

"String of pearls" around eyelid

Lipoid proteinosis

156

Bean-shaped temporal calcification

Lipoid Proteinosis

157

Hippocampal calcifications with seizures

Lipoid proteinosis

158

Name the skin findings in Lipoid Proteinosis

Waxy yellow papules of the face
String of pearls on the eyelids

159

Recurrent Infections
Thrombocytopenia
Eczema

Wiskott-Aldrich-Syndrome
(Immunodeficiency with Thrombocytopenia)

*butler with an askott without enough plates)

160

What two diseases have retinitis pigmentosa? (Salt and pepper)

Cockayne and Refsum

161

Immune deficiency
GI adenocarcinoma
Defect in RecQ

Bloom syndrome

162

What immune deficiency does Bloom have?

IgM, IgA. *like MA mas boy

163

What type of cancer does Blood syndrome get?

GI adenocarcinoma

164

Increased risk of Osteosarcoma

Rothmund-Thompson. (Rotheosarcoma)

165

Hypoplastic thumbs

Rothmund-Thompson

166

Broad thumbs

Rubinstein-Tayabi

167

Photodistributed erythema which ends up as poikiloderma
Hypoplastic thumbs and radia-ulna
Osteosarcoma
Premalignant acral keratosis
Recql4

Rothmund-Thompson

168

Inheritance pattern of Dyskeratosis Congenita

XLR

169

Severe and frequent sinopulminary infections
Erythematous cheeks
Ataxia

*WHAT cancer to watch out for?

Breast cancer!!!

170

What cancer is increased in Ataxia Telangiectasia?

Breast Cancer

171

Comma shaped corneal opacities

X-Linked ichthyosis

172

Periofovial glistening dots

Sjogren-Larson

173

Ichthyosis with spastic ditetrplegia

Sjogren Larson

174

Gene defect in Conrad-Hunermann-Happle Syndrome

EBP gene (enamel binding protein)
*Conrad has pearly white teeth (enamel)

175

Ichthyosis replaced with ice-pick scars, follicular atrophoderma
Stippled epiphysis
Cataracts
Deafness
Scarring alopecia
Frontal bossing flat nasal bridge

Conrad-Hunermann-Happle Syndrome (XLD Chondrodysplasia)

176

What is the gene mutation in School-Shultz-Passarge?

WNT-1

*went shopping

177

Unna Thost PPK

Mutation in K1 (unna*)
Unna thost is non-Epidermolytic PPK
-PPK with erythematous border,no transgradiens, pitted keratolysis, secondary tinea

178

Vorner Syndrome

Epidermolytic PPK
Mutation in K1 or K9
*similar to Unna Thost but has EHK on histology

179

Mal de Maleda

SLURP
*Transgredients - involves hands feet, elbows, knees
Maloder and secondary infections
Perioral erythema

180

Gene defect in both Lamellar Ichthyosis and CIE (Congenital Ichthyosiform Erythroderma)

TGM-1

And then in Lamellar there is also ABCCA, and in CIE there is also ELOX