Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association? | Zendy

Claudio Fozza | Zendy; Fausto Poddie | Zendy; Salvatore Contini | Zendy; Antonio Galleu | Zendy; Francesca Cottoni | Zendy; Maurizio Longinotti | Zendy; Francesco Cucca | Zendy

Open Access

Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?

Author(s) -

Claudio Fozza,

Fausto Poddie,

Salvatore Contini,

Antonio Galleu,

Francesca Cottoni,

Maurizio Longinotti,

Francesco Cucca

Publication year - 2011

Publication title -

case reports in hematology

Language(s) - English

Resource type - Journals

eISSN - 2090-6560

pISSN - 2090-6579

DOI - 10.1155/2011/848461

Subject(s) - medicine , connexin , ichthyosis , keratitis , dermatology , mutation , lymphoma , congenital ichthyosis , pathology , gene , genetics , biology , intracellular , gap junction

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.

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