Keratitis, ichthyosis, and deafness (KID) syndrome.
An 8-year-old boy with keratitis, ichthyosis, and deafness (KID) syndrome is reported. The patient has ichthyosis and deafness. Additional clinical features include hair and tooth abnormalities, as well as absence of the mammary glands. Although keratitis is an important element in the triad of KID syndrome, this patient has another ophthalmologic defect, a developmental anomaly of the lacrimal puncta, characterized by their complete absence. The case appears to be unique in the literature in that, to my knowledge, this particular ocular anomaly has not been described previously.
Miteva
Ljubka
L
Department of Dermatology and Venereology, Medical University, Sofia, Bulgaria. mitev@medfac.acad.bg
D002648:Child; D003638:Deafness / Q000473:pathology*; D005128:Eye Diseases / Q000473:pathology; D006801:Humans; D007057:Ichthyosis / Q000473:pathology*; D007634:Keratitis / Q000473:pathology*; D008297:Male; D013577:Syndrome; D014071:Tooth Abnormalities