TLDR Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
The study identified mutations in the desmoglein 4 gene (DSG4) as the cause of localized autosomal recessive hypotrichosis (LAH) in humans, mice, and rats, characterized by fragile, sparse hair on the scalp, trunk, and extremities. In Pakistani families, an in-frame deletion mutation (EX5_8del) in DSG4 was found, affecting critical extracellular domains necessary for cell adhesion. Similar mutations were identified in mouse and rat models, highlighting the role of desmosomal cadherins in hair follicle development and disease.
28 citations
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October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
44 citations
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August 2004 in “Journal of Investigative Dermatology” 50 citations
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February 2004 in “Genomics” A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
Multiphoton microscopy can effectively distinguish between scarring and non-scarring alopecia.
44 citations
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January 2011 in “Journal of Cutaneous Pathology” The HoVert technique is a simple, cost-effective new method that improves alopecia diagnosis by allowing detailed analysis from a single biopsy.
21 citations
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April 2004 in “Australasian Journal of Dermatology” A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
42 citations
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September 2000 in “British Journal of Dermatology” Some children are born with unusually short, fine hair because their hair growth phase is short, but this often gets better by itself during puberty.
189 citations
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May 1991 in “Medical Entomology and Zoology”
