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Flashcards in Genoderms Syndrome Deck (257)
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121

Test for X-linked ichthyosis?

Serum lipoprotein electrophoresis (detects accumulation of steroid sulfatase)

122

What is the difference in the distribution of the involvement of X-linked ichtyosis and lamellar ichtyosis?

X-linked is extensor involved and spares the flexures, vs all the other ichtyosis involve the flextures

123

Which is the o KU ichtyosis that spares the flexures?

X-linked ichtyosis

124

"Corrugated cardboard"

Epidermolytic Hyperkeratosis (EHK)

125

What part of the body is spared in X-Linked ichthyosis?

Palms, soles, face

126

Which are the only two ichthyosis that do not have PPK?

X-linked Ichthyosis and Ichthyosis Bullosa of Siemens

127

Which Ichthyosis presents with mild erythroderma and blistering

Ichthyosis bullosa of Siemens

128

Comma shaped corneal opacifications

X-linked Ichthyosis

129

Periodical "glistening" white dots in occular fundus

Sjogren-Larson Syndrome. "Snowy dots" , "jog" with a spastic gait

130

Ichytosis with spastic gait

Sjogren Larson

131

Unilateral ichthyotic erythroderma, ipsilateral alopecia, limb defects

CHILD syndrome

132

Stipples epiphyses

CHILD syndrome. Also Condradi-Hunermann-Happle syndrome

133

New AR form of EB

Dystonan. (BPAG)

134

Three syndromes associated with milea

Oro-facial-digital syndrome, Rombo, Basex

Goblins, brooke-Speigler

135

Genoderm resulting from defect in:
Enzyme 3b-hydroxysteroid-dehydrogenase

CHILD syndrome

136

Which genoderm has stippled epiphysis in early infancy but resolve during childhood

CHILD

137

Besides CHILD syndrome, what other genoderm has stippled epiphysis

Condrodysplasia Punctata

138

Ipsilateral alopecia, erythroderma, organ aplasia, skeletal defects, stippled epiphysis

CHILD syndrome (congenital hemidysplasia with ichthyosiform erythroderma and limb defects)

139

Symmetric erythematous hyperkeratosis plaques on knees, elbows, and face at birth
PPK
Congenital sensorineural deafness
Vascularizing keratitis
Infections
SCC

KID syndrome

140

What kind of deafness is associated with KID syndrome

Congenital sensorineural deafness.

141

Mild ichthyosis
Cerebellar ataxia
Peripheral neuropathy
Retinitis pigmentosa
Deafness

Refsum Disease

142

Salt and pepper retinitis pigmentosa

Refsum

143

Name some findings of Refsum disease

Retinitis pigmentosa (salt and pepper)
Deafness
Ichthyosis
Peripheral neuropathies
Ataxia

144

In addition to Ataxia-Telangiectasia, name another genoderm which causes cerebellar ataxia?

Refsum Disease

145

Genoderm caused by defect in Peronist all phytanolyl-CoA hydroxylase

Refsum

146

What substance is accumulated in Refsum?

Phytanic acid

147

Treatment for Refsum?

Dietary restriction of phytanic acid

148

What are the verrucous papules on the back of the hands in Dariers called?

Acrokeratosis verruciformis of Hopf

149

Acrokeratosis verruciformis of Hopf

Verrucous hyperkeratotic papules on dorsal hands in Dariers disease

150

Nail findings in Darier

Red and white alternating longitudinal bands
V shaped nicks at distal plate
Subungal hyperkeratosis