An infant with congenital ichthyosis and deafness developed Hirschsprung's disease. No evidence of keratitis was present. No previous cases of ichthyosis have been associated with aganglionic megacolon. Although no corneal changes were observed, we believe that the clinical features of ichthyosis and deafness suggest the diagnosis of KID (keratitis, ichthyosis, deafness) syndrome. Whether corneal changes would have occurred is unknown, since the infant died of malnutrition and infectious complications.
A 33-year-old woman presented with a two-year history of asymptomatic lesions of the chest. There was no family history of similar lesions.Physical examination revealed multiple, nontender, firm, blue papules on the anterior aspect of the chest (Fig 1). Representative sections of the biopsy specimen are shown in Figs 2 and 3.
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