Keratosis follicularis spinulosa decalvans. An infant with failure to thrive, deafness, and recurrent infections

Abstract

A 10 mo. old male infant had keratosis follicularis spinulosa decalvans, an X-linked dominant disorder. His cutaneous abnormalities consisted of generalized hyperkeratosis, spiny follicular papular lesions, universal alopecia and hypoplastic nails. Ocular changes characteristic of the disease were also present. Unusual findings included deafness, failure to thrive, predisposition to bacterial infections without demonstrable immune defect and transient hepatomegaly with abnormal liver function studies.