Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?
oleh: Claudio Fozza, Fausto Poddie, Salvatore Contini, Antonio Galleu, Francesca Cottoni, Maurizio Longinotti, Francesco Cucca
| Format: | Article |
|---|---|
| Diterbitkan: | Wiley 2011-01-01 |
Deskripsi
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.