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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 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 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.

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 Further Insights in Trichothiodystrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review

13 citations , July 2012 in “International Journal of Trichology”

TTD symptoms vary widely, requiring thorough evaluations.

research Trichothiodystrophy Hair Shafts Display Distinct Ultrastructural Features

May 2022 in “Experimental dermatology”

Trichothiodystrophy hair is structurally abnormal with protein and organization issues.

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