A new variant of trichothiodystrophy with recurrent infections, failure to thrive, and death.

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.

journal_name

Pediatr Dermatol

journal_title

Pediatric dermatology

authors

Petrin JH,Meckler KA,Sybert VP

doi

10.1046/j.1525-1470.1998.1998015031.x

subject

Has Abstract

pub_date

1998-01-01 00:00:00

pages

31-4

issue

1

eissn

0736-8046

issn

1525-1470

journal_volume

15

pub_type

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