title: Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?
abstract: 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.
authors.affiliation: Institute of Hematology, University of Sassari, 07100 Sassari, Italy.
authors.forename: Claudio
authors.initials: C
authors.lastname: Fozza
authors.forename: Fausto
authors.initials: F
authors.lastname: Poddie
authors.forename: Salvatore
authors.initials: S
authors.lastname: Contini
authors.forename: Antonio
authors.initials: A
authors.lastname: Galleu
authors.forename: Francesca
authors.initials: F
authors.lastname: Cottoni
authors.forename: Maurizio
authors.initials: M
authors.lastname: Longinotti
authors.forename: Francesco
authors.initials: F
authors.lastname: Cucca