Keratoderma hereditaria mutilans (Vohwinkel's syndrome): a trial of isotretinoin.
نویسندگان
چکیده
An 8-year-old girl with the classic findings of keratoderma hereditaria mutilans (Vohwinkel's syndrome) was seen. Treatment with isotretinoin was instituted to decrease the hyperkeratosis and to prevent further autoamputation. After a 12-week course at 2 mg per kg per day, the patient had only minimal decrease in the amount of hyperkeratosis. Because of the well-known long-term risks of systematic retinoids and her suboptimal improvement, therapy was discontinued.
منابع مشابه
Vohwinkel syndrome, ichthyosiform variant - by Camisa - Case report*
Vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis, which manifests in infants and becomes more evident in adulthood. Its mode of inheritance is autosomal dominant with mutation in loricrin and Connexin 26 genes. Patients with this mutation present hyperkeratosis of the palms and soles, constricting bands of the digits, usually on the fift...
متن کاملA missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.
The multiplicity of functions served by intercellular gap junctions is reflected by the variety of phenotypes caused by mutations in the connexins of which they are composed. Mutations in the connexin26 (Cx26) gene ( GJB2 ) at 13q11-q13 are a major cause of autosomal recessive hearing loss (DFNB1), but have also been reported in autosomal dominant deafness (DFNA3). We now report a Cx26 mutation...
متن کاملVariant 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 phalan...
متن کاملConnexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin.
Neuroectodermal syndromes involving the skin and inner ear may be associated with mutations in connexin proteins, which form gap junctions important for intercellular communication. Vohwinkel syndrome (keratodermia mutilans with hearing loss) and keratitis-ichthyosis-deafness (KID) syndrome are rare ectodermal dysplasias associated with dominant mutations in the GJB2 gene encoding connexin 26. ...
متن کاملReiter’s syndrome as a manifestation of immune reconstitution inflammatory syndrome in an HIV infected individual
Case A 50 year old male, known HIV patient on ART for past 4 months, presented with complaints of scaly raised lesions over palms, soles and genitalia with history of burning micturition and swelling of right knee for over one month. On examination patient was thin built, anaemic. Right knee joint effusion with tenderness was present. Palms and soles revealed keratoderma blenorrhagicum. Nails w...
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ورودعنوان ژورنال:
- Pediatric dermatology
دوره 2 3 شماره
صفحات -
تاریخ انتشار 1985