A new variant of Vohwinkel syndrome: A case report
| Autor: | Hassan Seirafi, Saeid Morowati, Farzaneh Khezri, Kambiz Kamyab-Hesari, Mehdi Mirzaeipour, Somayeh Khezri |
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| Rok vydání: | 2011 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Hearing loss Administration Topical Hearing Loss Sensorineural Focal Palmoplantar Keratoderma Genes Recessive Dermatology Hypotrichosis Polymerase Chain Reaction Diffuse palmoplantar keratoderma Young Adult Keratolytic Agents Keratoderma Palmoplantar otorhinolaryngologic diseases Humans Medicine Abnormalities Multiple skin and connective tissue diseases Congenital hypotrichosis Keratoderma VOHWINKEL SYNDROME business.industry Genetic Variation Membrane Proteins General Medicine New variant medicine.disease Loricrin Female medicine.symptom business Hand Deformities Congenital |
| Zdroj: | Seirafi, Hassan; Khezri, Somayeh; Morowati, Saeid; Kamyabhesari, Kambiz; Mirzaeipour, Mehdi; & Khezri, Farzaneh. (2011). A new variant of Vohwinkel syndrome: A case report. Dermatology Online Journal, 17(3). Retrieved from: http://www.escholarship.org/uc/item/16g809sf |
| ISSN: | 1087-2108 |
| DOI: | 10.5070/d316g809sf |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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