Trichothiodystrophy
- PMID: 37342013
- DOI: 10.1001/jamadermatol.2023.0913
Trichothiodystrophy
Plain language summary
This case report describes an infant with frizzy, coarse, and fragile hair and low-set ears, blepharophimosis, and osteopenia.
Similar articles
-
Case for diagnosis. Hair analysis in a child with delayed psychomotor development and fragile and brittle hair: Trichothiodystrophy.An Bras Dermatol. 2023 Mar-Apr;98(2):250-252. doi: 10.1016/j.abd.2021.10.015. Epub 2022 Dec 14. An Bras Dermatol. 2023. PMID: 36526486 Free PMC article. No abstract available.
-
Analysis of mutations in the XPD gene in a patient with brittle hair.Ann Clin Lab Sci. 2013 Summer;43(3):323-7. Ann Clin Lab Sci. 2013. PMID: 23884229
-
Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay syndrome.Adv Exp Med Biol. 2010;685:106-10. doi: 10.1007/978-1-4419-6448-9_10. Adv Exp Med Biol. 2010. PMID: 20687499 Review.
-
Novel ERCC2 mutation in two siblings with trichothiodystrophy.Pediatr Dermatol. 2019 Sep;36(5):668-671. doi: 10.1111/pde.13882. Epub 2019 Jul 8. Pediatr Dermatol. 2019. PMID: 31282071
-
Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias.J Am Acad Dermatol. 1990 May;22(5 Pt 1):705-17. doi: 10.1016/0190-9622(90)70096-z. J Am Acad Dermatol. 1990. PMID: 2189905 Review.
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
