TLDR Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
Trichothiodystrophy (TTD) was a rare autosomal recessive disorder characterized by sulfur-deficient brittle hair and associated with symptoms such as ichthyosis, alopecia, developmental delay, and distinctive tiger-tail banding of the hair shaft. In a reported case of a 3-year-old boy with classic TTD features, brain MR imaging revealed both diffuse dysmyelination and osteosclerosis. These imaging findings, when observed together, were suggested to be potentially specific indicators for diagnosing TTD.
71 citations
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May 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” TTD hair brittleness is caused by multiple structural abnormalities.
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August 2018 in “Dermatologic Clinics” Trichoscopy is a useful tool for diagnosing hair disorders without pulling out hair.
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January 2008 
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January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
January 2013 in “International Journal of Trichology” Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
7 citations
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November 2013 in “Pediatric and Developmental Pathology” Over half of the children had abnormal hair under a microscope, with many having genetic hair conditions.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
