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Image Number 810 (Vohwinkel syndrome)

 
Morphology:
Keratoderma

Diagnosis: Vohwinkel syndrome

Site: Foot,dorsum

Sex: F

Age: 30

Type: Clinical

Description: Star shaped keratotic plaques, constricting bands of the digits, and pseudoainhum

Submitted by: Shahbaz Janjua

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Differential Diagnosis

History: Vohwinkel syndrome is a rare autosomal dominant disorder of keratinization, characterized by diffuse honeycomb pattern palmoplantar keratoderma, constricting bands of the digits with pseudo-ainhum, and starfish-shaped hyperkeratotic plaques on the dorsum of the hands and feet, elbows, and knees.  Two mutations of the epidermal differentiation complex (a missense mutation of the GJB2 gene coding connexin-26 on chromosome 13, and an insertional mutation of the loricrin gene on the epidermal differentiation complex on 1q21) have been described to be responsible for Vohwinkel syndrome. 

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