Ichthyosiform dermatosis, keratitis, and deafness

Abstract

Two patients had an unusual ichthyosiform dermatosis, neurosensory deafness, and vascularizing keratitis. There was no family history of the disorder and no consanguinity. A squamous cell carcinoma of the tongue developed in one child. The association of such an eruption and deafness in previously reported cases is reviewed.

Fatal Septicemia in an Infant with Keratitis, Ichthyosis, and Deafness (KID) Syndrome

“…Similarly, Grob et al (7) described a 31-year-old patient who had repeated episodes of cutaneous mycotic and bacterial infections as well as scabies infestations. This patient died from squamous cell carcinoma of the skin, which has also been reported in several other cases of KID syndrome (6)(7)(8)(9)(10)(11). Some have suggested that the immunosuppression resulting from the inflammation of chronic cutaneous mycotic infection in patients with KID syndrome might increase local susceptibility to squamous cell carcinoma (8,9).…”

KID Syndrome: Congenital Ichthyosiform Dermatosis with Keratitis and Deafness

“…Our patient suffered from recurrent bacterial and fungal infections; however, severe systemic infections were not observed and immunologic evaluation disclosed no significant defect (6,7). Baden et al (8) believe and we agree that the unusual susceptibility to cutaneous infections is attributable to abnormality of the barrier function of the stratum corneum. Recently, Harms et al showed the absence of a lymphocytic proliferative response to Candida albicans during the active stage in this disease (3).…”

Keratitis?ichthyosis?deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients

“…Here, we report three additional patients with skin carcinoma with the same mutation. We also report the third case of carcinoma of the tongue 14,15 and show that the patient had the p.Ser17Phe mutation.…”