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Connexins 26, 30, and 31 are associated with Keratitis-Ichthyosis-Deafness syndrome, hidrotic ectodermal dysplasia, and erythrokeratoderma variabilis, respectively. What additional screening test would capture a finding allelic to any of these conditions?

A. Eye exam

B. Hearing test

C. Chest radiograph

D. Echocardiogram

B. Nonsyndromic deafness is associated with mutations in connexins 26, 30, and 31 among others. Screening by audiology in a patient or family members can assess for this finding.

Other than Human hair basic keratins 1 and 6, monilethrix may be caused by a mutation in which of the following?

A. Loricrin

B. Plakophilin

C. Desmocollin

D. Desmoglein IV

D. Desmoglein IV has been implicated in some cases of monilethrix in addition to established reports of Hhb 1 and 6. Loricrin is implicated in Vohwinkel syndrome variants, while desmocollin and plakophilin are involved in subcorneal pustular dermatosis and Naxos syndrome, respectively.

The most common malignant tumor in children is a feature of which genodermatosis?

A. Basal cell nevus syndrome

B. Birt Hogg Dube syndrome

C. Cowden syndrome

D. Muir-Torre syndrome

A. medulloblastomas may occur in nevoid basal cell carcinoma syndrome. In addition to their characteristic cutaneous features, Birth hogg Dube is associated with renal cancer, Cowden syndrome with breast and thyroid malignancy and Muir-Torre with sebaceous and gastrointestinal carcinoma

Epidermolysis bullosa with muscular dystrophy is due to a defect in:

A. Collagen VII

B. Plectin

C. alpha 6 beta 4 integrin

D. Kindlin

B. Plectin is mutated in EBS-MD, collagen VII is featured in dystrophic epidermolysis bullosa, alpha 6 beta 4 integrin in junctional epidermolysis bullosa or epidermolysis bullosa simplex and kindlin in Kindler syndrome.

All of the following syndromes feature café au lait macules EXCEPT:

A. Neurofibromatosis

B. Legius syndrome

C. Peutz Jeghers

D. Russell Silver

C. Peutz Jeghers ...

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