Search
for

    Glossary Trichothiodystrophy

    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.

    Sort by

    Research 30 of 186

    1. A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy Molecular cell · 1998 · 188 citations
    2. Trichothiodystrophy Archives of Dermatology · 1980 · 175 citations
    3. Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias Journal of the American Academy of Dermatology · 1990 · 144 citations
    4. Structural and Molecular Hair Abnormalities in Trichothiodystrophy 2006 · 71 citations
    5. New clinico‐genetic classification of trichothiodystrophy American Journal of Medical Genetics Part A · 2009 · 68 citations
    6. Conformational differences in protein disulfide linkages between normal hair and hair from subjects with trichothiodystrophy: A quantitative analysis by Raman microspectroscopy Biopolymers · 2006 · 53 citations
    7. Trichothiodystrophy: an ultrastructural study of the hair follicle British Journal of Dermatology · 1985 · 42 citations
    8. A New Case of Isolated Trichothiodystrophy Dermatology · 1993 · 26 citations
    9. [Trichothiodystrophy: a morphological and biochemical study]. PubMed · 1983 · 26 citations
    10. In utero Diagnosis of Trichothiodystrophy by Endoscopically-Guided Fetal Eyebrow Biopsy Fetal Diagnosis and Therapy · 2000 · 21 citations
    11. Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease British Journal of Dermatology · 2009 · 17 citations
    12. Trichothiodystrophy with Dysmyelination and Central Osteosclerosis American Journal of Neuroradiology · 2010 · 16 citations
    13. Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review International Journal of Trichology · 2012 · 13 citations
    14. High-sulfur protein deficient human hair: clinical aspects and biochemical study of two unreported cases of a variant type of trichothiodystrophy 1989 · 11 citations
    15. A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation Pediatric Dermatology · 1997 · 10 citations
    16. Diagnosis of Trichothiodystrophy in 2 Siblings Dermatology · 1997 · 10 citations
    17. Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy Journal of the American Academy of Dermatology · 2004 · 7 citations
    18. Trichothiodystrophy Associated with Urologic Malformation and Primary Hypercalduria Pediatric Dermatology · 1997 · 7 citations
    19. Trichothiodystrophy: Current Concepts Journal of Cutaneous Medicine and Surgery · 1996 · 5 citations
    20. Trichothiodystrophy without associated neuroectodermal features in two siblings International Journal of Trichology · 2018 · 2 citations
    21. Human hair production by scalp samples grafted onto nude mice. Biochemical data on normal human hair and the genetic defect trichothiodystrophy Journal of Dermatological Science · 1994 · 2 citations
    22. Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes 1989 · 2 citations
    23. Trichothiodystrophy 2008 · 1 citations
    24. Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother American Journal of Medical Genetics Part A · 2026
    25. Novel association of trichothiodystrophy with autoimmune thyroiditis and autoimmune hemolytic anemia: A case report Indian dermatology online journal · 2023
    26. Trichothiodystrophy hair shafts display distinct ultrastructural features Experimental dermatology · 2022
    27. 574 A deep learning classifier for the analysis of tiger tail banding in trichothiodystrophy Journal of Investigative Dermatology · 2021
    28. 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy Journal of Investigative Dermatology · 2017
    29. Trichothiodystrophy in a child with occult learning disorder International Journal of Trichology · 2013
    30. Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities Neuropediatrics · 2012