A New Variant of Trichothiodystrophy with Recurrent Infections, Failure to Thrive, and Death
Article first published online: 16 MAR 2009
© 1998 Wiley Periodicals, Inc.
Volume 15, Issue 1, pages 31–34, January-February 1998
How to Cite
Petrin, J. H., Meckler, K. A. and Sybert, V. P. (1998), A New Variant of Trichothiodystrophy with Recurrent Infections, Failure to Thrive, and Death. Pediatric Dermatology, 15: 31–34. doi: 10.1111/j.1525-1470.1998.tb01265.x
- Issue published online: 16 MAR 2009
- Article first published online: 16 MAR 2009
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.