Keratitis, ichthyosis, and deafness (KID) syndrome. Vertical transmission and death from multiple squamous cell carcinomas.
A father and daughter had typical clinical features of the keratitis, ichthyosis, and deafness (KID) syndrome, as described by Skinner et al in 1981. To our knowledge, ours is the first observation of a vertical transmission of this syndrome. The mechanism of inheritance is uncertain. These two patients as well as the 26 previously described exhibited a typical hyperkeratotic eruption, which should not be confused with ichthyosis. The characteristic features are diffuse hyperkeratosis, keratotic plaques, reticulated hyperkeratosis on the face, peribuccal grooves, and heavy-grain leatherlike keratoderma. The occurrence of multiple squamous cell carcinomas underlines the seriousness of this congenital ectodermal defect. Etretinate can relieve the lesions without actually improving the chances of survival.
D000328:Adult; D002294:Carcinoma, Squamous Cell / Q000209:etiology*; D003638:Deafness / Q000235:genetics*; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000150:complications / Q000235:genetics*; D007223:Infant; D007634:Keratitis / Q000150:complications / Q000235:genetics*; D008297:Male; D010375:Pedigree; D012878:Skin Neoplasms / Q000209:etiology*; D013577:Syndrome