A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome?

Keratitis-ichthyosis-deafness syndrome is a rare congenital ectodermal disorder, characterized by presence of skin lesions, neurosensory hearing loss, and vascularizing keratitis. Several autosomal dominant mutations in the Connexin 26 gene (GJB2) have been discovered as a cause of this syndrome. We report two patients who presented with a combination of clinical features of keratitis-ichthyosis-deafness syndrome (e.

Amyopathic dermatomyositis resembling stasis dermatitis.

This case describes an unusual presentation of dermatomyositis in a patient with ovarian carcinoma. The eruption appeared as a venous stasislike dermatitis. The temporal sequence of onset after chemotherapy administration suggested a possible drug-induced process.

Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome.

Objective: The objective of this study was to characterize the temporal bone phenotype associated with a mutation of GJB2 (encoding connexin 26).

Study Design: The authors conducted correlative clinical, molecular genetic, and postmortem histopathologic analysis.

Methods: The study subject was a male infant with keratitis-ichthyosis-deafness (KID) syndrome.