5 citations
,
May 2014 in “Clinical and Experimental Dermatology” This study found that novel compound heterozygous mutations in the desmoplakin gene lead to hair shaft abnormalities and can result in lethal cardiomyopathy.
17 citations
,
September 2009 in “British Journal of Dermatology” This study suggests that clinically apparent fragile hair in children is rarely linked to trichothiodystrophy, and the tiger-tail pattern is not wholly specific to this diagnosis.
49 citations
,
April 2007 in “Pediatric Dermatology” This study describes a family with uncombable hair syndrome, suggesting autosomal dominant inheritance, and reports that oral biotin improved hair appearance in two young patients.
6 citations
,
January 2000 in “The Journal of Trace Elements in Experimental Medicine” In this study, an 11-year-old girl with acrodermatitis enteropathica showed significant improvement in symptoms after oral zinc therapy.
24 citations
,
September 1997 in “PubMed” This study concludes that loose anagen hair can develop in adulthood and may be difficult to distinguish from telogen hair loss, with pathologic findings offering limited diagnostic insights.
11 citations
,
January 1989 This case report describes two patients with trichothiodystrophy who exhibited a different pattern of hair protein composition changes, suggesting a subgroup of TTD characterized by partial loss of high-sulfur proteins without significant alteration in their amino acid composition.
47 citations
,
November 1966 in “Archives of Dermatology” This study found that trichorrhexis nodosa, a common cause of unexplained hair loss, is primarily caused by trauma rather than a metabolic defect.