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GlossaryTrichothiodystrophy (TTD)

rare genetic disorder causing brittle hair and developmental issues

Trichothiodystrophy (TTD) is a rare genetic disorder characterized by brittle hair due to a deficiency in sulfur-containing proteins. It often involves other symptoms such as intellectual disability, developmental delays, and photosensitivity. The condition is linked to mutations in genes involved in DNA repair and transcription, making it a complex syndrome with a wide range of clinical manifestations.

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research Structural and Molecular Hair Abnormalities in Trichothiodystrophy

71 citations, May 2006 in “The journal of investigative dermatology/Journal of investigative dermatology”

TTD hair brittleness is caused by multiple structural abnormalities.

research A Mouse Model for the Basal Transcription and DNA Repair Syndrome Trichothiodystrophy

188 citations, June 1998 in “Molecular cell”

Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.

research Office Diagnosis of Hair Shaft Defects

33 citations, March 2006 in “Seminars in cutaneous medicine and surgery”

The document explains how to identify different hair problems using a microscope.

research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses

23 citations, November 2001 in “Archives of Dermatology”

Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.

research Novel Association of Trichothiodystrophy With Autoimmune Thyroiditis and Autoimmune Hemolytic Anemia: A Case Report

January 2023 in “Indian dermatology online journal”

A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.

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