A New Variant of Trichothiodystrophy with Recurrent Infections, Failure to Thrive, and Death

Authors

  • James H. Petrin M.D.,

    1. Department of Medicine, Divisions of Dermatology, University of Washington School of Medicine and Children's Hospital and Medical Center, Seattle, Washington
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  • Kenneth A. Meckler M.D.,

    1. Department of Pathology, and Department of Pediatrics, University of Washington School of Medicine and Children's Hospital and Medical Center, Seattle, Washington
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  • Virginia P. Sybert M.D.

    Corresponding author
    1. Department of Medicine, Divisions of Dermatology, University of Washington School of Medicine and Children's Hospital and Medical Center, Seattle, Washington
    2. Department of Medicine, Divisions of Medical Genetics, University of Washington School of Medicine and Children's Hospital and Medical Center, Seattle, Washington
    3. Divisions of Dermatology and Medical Genetics, University of Washington School of Medicine and Children's Hospital and Medical Center, Seattle, Washington
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Children's Hospital and Medical Center, Division of Dermatology, CH-25, 4800 Sand Point Way NE, Seattle, WA 98105.

Abstract

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.

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