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A new variant of trichothiodystrophy with recurrent infections, failure to thrive, and death
J H Petrin1, K A Meckler, V P Sybert
1Department of Medicine, University of Washington School of Medicine and Children's Hospital and Medical Center, Seattle 98105, USA.
Pediatric Dermatology
|March 13, 1998
Abstract:
Two brothers demonstrated a severe variant of trichothiodystrophy. Both had brittle hair, developmental delay with severe failure to thrive, recurrent infections, cataracts, and angioendotheliomas of the liver at autopsy. The elder died at 12 weeks, the younger at 6 months. The younger had the typical appearance of banded hair on polarizing microscopy and a low cystine content measured by ion exchange chromatography. The history, clinical findings, and basic defects of trichothiodystrophy are discussed.