A new variant of trichothiodystrophy with recurrent infections, failure to thrive, and death.
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.
Petrin
J H
JH
Department of Medicine, University of Washington School of Medicine and Children's Hospital and Medical Center, Seattle 98105, USA.
Meckler
K A
KA
Sybert
V P
VP
D001424:Bacterial Infections / Q000150:complications*; D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D003937:Diagnosis, Differential; D005183:Failure to Thrive / Q000150:complications*; D017809:Fatal Outcome; D006197:Hair / Q000648:ultrastructure; D006201:Hair Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male