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Trichothiodystrophy with chronic neutropenia and mild mental retardation.

Abstract
Trichothiodystrophy is a feature of several diseases that consist of characteristic hair shaft abnormalities and a wide spectrum of other developmental defects. Detection of sulfur-deficient hairs identifies this disorder and separates it from other similar ectodermal dysplasias with normal sulfur content. Detection of low sulfur hair syndrome is also important for genetic counseling, because the disease appears to be an autosomal recessive trait. We report a patient with chronic neutropenia, mild mental retardation, and low sulfur content in hair. Our case expands the spectrum of disorders associated with trichothiodystrophy.
AuthorsP H Itin, M R Pittelkow
JournalJournal of the American Academy of Dermatology (J Am Acad Dermatol) Vol. 24 Issue 2 Pt 2 Pg. 356-8 (Feb 1991) ISSN: 0190-9622 [Print] United States
PMID1999547 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Sulfur
Topics
  • Child
  • Chronic Disease
  • Female
  • Hair (metabolism, ultrastructure)
  • Hair Diseases (complications, metabolism, pathology)
  • Humans
  • Intellectual Disability (complications)
  • Neutropenia (complications)
  • Skin Diseases (complications)
  • Sulfur (metabolism)

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