Article
Trichothiodystrophy and associated anomalies: a variant of SIBIDS or new symptom complex?
Pediatric dermatology - 1 Jun 1993
Hersh J H, Klein L R, Joyce M R, Hordinsky M K, Tsai M Y, Paller A, Hyzer R, Zax R H
Abstract excerpt
Trichothiodystrophy is characterized by sparse, short, sulfur-deficient hair. Numerous symptom complexes have been described in which the hair abnormality represents a constant feature. We report a boy with trichothiodystrophy, ichthyotic skin changes, onychodystrophy, chronic neutropenia, osteosclerosis, hypothyroidism, nystagmus, growth and mental retardation, and microcephaly, who developed a progressive...
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