Miranda FME, Campos MP, Vega MME, Arenas R

Language: Spanish
References: 13
Page: 34-37
PDF size: 191.12 Kb.

ABSTRACT

Vohwinkel syndrome is an autosomal dominant genetic disorder caused by mutations in the gjb2 gene, located in locus 13q11-q12, which is encoded for connexin 26. Clinical manifestations began in childhood and is more evident in adulthood, it has a predilection for Caucasians females. It is characterized by a triad: diffuse palmo-plantar keratoderma, transgrediens, “in honeycomb”; linear keratotic papules or “starfish” on elbows and knees; and constrictive fibrous bands in fingers and toes (pseudoainhum). Also hypoacusia, nail dystrophy, alopecia, onychogryphosis and a variety of neurological abnormalities may occur.
We present a 26-year-old male patient with Vohwinkel syndrome, with palmoplantar keratoderma, constrictive fibrous bands (pseudoainhum), linear keratotic papules and hearing loss.

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