TLDR Two siblings were diagnosed with Trichothiodystrophy, identified by brittle hair and low sulfur content.
Trichothiodystrophy (TTD) was identified in two siblings with related parents, characterized by sparse, brittle hair with low cystine content and associated with various symptoms including epilepsy, ataxia, and spasticity. The study highlighted that the sulfur content in their hair was about 50% of normal, and microscopy revealed specific hair abnormalities. The research emphasized that diagnosing TTD could be challenging due to its varied clinical presentation, but measuring hair sulfur content was a crucial diagnostic tool.
59 citations
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June 2008 in “Journal of The American Academy of Dermatology” The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
30 citations
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May 2004 in “Journal der Deutschen Dermatologischen Gesellschaft” The document concludes that early diagnosis and treatment are crucial for children with hair loss to prevent permanent damage, although not all conditions can be effectively treated.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
16 citations
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January 2010 in “American Journal of Neuroradiology” Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
3 citations
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November 2021 in “Applied Microscopy” Hair microscopy is a simple and cost-effective method to help diagnose systemic diseases in children.
