Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?
| Autor: | Claudio Fozza, Fausto Poddie, Salvatore Contini, Antonio Galleu, Francesca Cottoni, Maurizio Longinotti, Francesco Cucca |
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| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: | |
| Zdroj: | Case Reports in Hematology, Vol 2011 (2011) |
| Druh dokumentu: | article |
| ISSN: | 2090-6560 2090-6579 |
| DOI: | 10.1155/2011/848461 |
| Popis: | Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by skin lesions, neurosensorial hypoacusia, and keratitis, usually due to the c.148G→A mutation involving the connexin 26 gene. We report on a KID patient who showed the atypical c.101T→C mutation and developed a T-cell lymphoma so far never described in this group of patients. |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
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