(2011) A new variant of Vohwinkel syndrome: A case report. Dermatology Online Journal. p. 3. ISSN 10872108 (ISSN)
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Abstract
Vohwinkel syndrome (mutilating and diffuse palmoplantar keratoderma) is associated with various extracutaneous features including icthyosis and deafness. Its mode of inheritance is autosomal dominant with mutation in loricrin and connexin 26 genes. Here we report a mutilating and focal palmoplantar keratoderma in two siblings with congenital hypotrichosis and probably autosomal recessive inheritance that appears to be a new variant of Vohwinkel syndrome. © 2011 Dermatology Online Journal.
| Item Type: | Article |
|---|---|
| Keywords: | connexin 26 emollient agent genomic DNA keratolytic agent acanthosis adult article autosomal recessive inheritance case report diffuse palmoplantar keratoderma female gene mutation genetic analysis histopathology human human tissue hyperkeratosis hypotrichosis Iran keratoderma hereditarium mutilans male sequence analysis Abnormalities, Multiple Administration, Topical Genes, Recessive Genetic Variation Hand Deformities, Congenital Hearing Loss, Sensorineural Humans Keratoderma, Palmoplantar Keratolytic Agents Membrane Proteins Polymerase Chain Reaction Young Adult |
| Divisions: | |
| Page Range: | p. 3 |
| Journal or Publication Title: | Dermatology Online Journal |
| Journal Index: | Scopus |
| Volume: | 17 |
| Number: | 3 |
| ISSN: | 10872108 (ISSN) |
| Depositing User: | مهندس مهدی شریفی |
| URI: | http://eprints.bmsu.ac.ir/id/eprint/1316 |
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