Variant of Vohwinkel's syndrome.
A 28-year-old female born to consanguineous parents, presented with progressive palmoplantar keratoderma since the age of six months and a constricting band on right fourth finger of one year duration. There was history of similar complaints being present in two other family members. Associated clinical findings included starfish-shaped cornified plaques on knuckles, resorption of distal phalanges and keratotic plaques on elbows, groins and knees. The patient was mentally sound and had normal audiometry. Biopsy from hyperkeratotic plaque showed hyperkeratosis, parakeratosis, increased granular layer and papillomatosis. Gene mapping for loricrin mutation was found to be negative.
Ali
Mir Mubashir
MM
Department of Dermatology, Kasturba Medical College Hospital, Attavar, Mangalore, India.
Upadya
Gatha M
GM
D000328:Adult; D002874:Chromosome Mapping; D005260:Female; D005528:Foot / Q000473:pathology; D006225:Hand / Q000473:pathology; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics / Q000473:pathology*; D008565:Membrane Proteins / Q000235:genetics; D010375:Pedigree; D035583:Rare Diseases; D013577:Syndrome
D008565:Membrane Proteins; C064554:loricrin