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).…”

“…It is postulated to be an autosomal dominant disorder, in which most cases represent new mutations (4,5). Other frequently reported findings include recurrent skin infections, malformed or absent nails, alopecia or sparse hair, teeth anomalies, hypohidrosis, short heel cords, growth delay, and development of squamous cell carcinoma (6)(7)(8)(9)(10)(11)(12)(13)(14)(15). Increased susceptibility to viral, bacterial, and mycotic infections has also been observed, and a number of patients have undergone extensive investigations for immunologic dysfunction (3,(11)(12)(13)(14)(15)(16)(17)(18)(19).…”

Overexpression of p53 in squamous cell carcinoma of the tongue in young patients with no known risk factors is not associated with mutations in exons 5-9

“…Therefore, the cause and the mechanisms by which these young patients had SCC develop are most likely similar to the mechanisms responsible for its development in the typical SCC patients. In addition, other proposed causes for SCC in young people with no risk factors have included immunosuppression, 29-31 viral infection, 32 heritability, 33,34 trichinosis infection, 35 history of xeroderma pigmentosum or ichthyosiform dermatosis, [36][37][38][39][40] or oral exposure to polyvinyl chloride. 41 When all of these possible causes for SCC are accounted for, there is still a large number of patients with no known risk factors who have SCC develop.…”

The keratitis, ichthyosis, and deafness (KID) syndrome

“…Since that time, at least 17 similar patients have been described under a wide variety of diagnostic or descriptive labels (Table).21"' We have observed such a patient at Indiana University School of Medicine, India¬ napolis, for the past 11 years. Her ophthalmologic and dermatologie abnormalities were reported previously in the ophthalmology literature."…”