Trichothiodystrophy Associated With Urologic Malformation And Primary Hypercalciuria

November 1997 in “ Pediatric Dermatology ”

Josep Malvehy, Juan Ferrando, Joaquim Soler, Anna Tuneu, F Ballesta, Teresa Estrach

trichothiodystrophy congenital ichthyosis trichoschisis hair abnormality endocrine issues skin issues nervous system issues dysmorphic facies microscopic examination of hair defective cuticle low sulfur content TTD ichthyosis hair examination

Studysummary This case report identifies an association between trichothiodystrophy and a urologic malformation with primary hypercalciuria, adding to the spectrum of TTD-related abnormalities.

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Research cited in this study

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research Trichothiodystrophy: Review of Sulfur-Deficient Brittle Hair Syndromes and Association with the Ectodermal Dysplasias

144 citations , May 1990 in “Journal of the American Academy of Dermatology”

research Trichothiodystrophy: A Study on Sulfur-Deficient Brittle Hair and Associated Symptoms

175 citations , December 1980 in “Archives of Dermatology”

In this study, researchers examined two new cases of trichothiodystrophy and observed that the condition is linked to decreased synthesis of high-sulfur matrix proteins in hair.

research Lamellar Ichthyosis, Dwarfism, Mental Retardation, and Hair Shaft Abnormalities

61 citations , April 1980 in “Journal of the American Academy of Dermatology”

This case study describes a young woman with a unique syndrome combining lamellar ichthyosis, neuroectodermal and mesodermal defects, and hair with trichoschisis and low sulfur content.