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Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
1 Introduction Hypotrichosis type 14 (HYPT14, OMIM: 618275) is a rare autosomal recessive disorder caused by biallelic variants in the LSS (OMIM: 600909) gene. LSS encodes lanosterol synthase, a key enzyme in the cholesterol biosynthesis pathway, and loss of LSS function leads to abnormal hair follicle development, characterized by congenital total body hair loss or extreme sparseness, accompanied by soft, fine, and easily falling hair (1).
Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis
REVIEW article Volume 12 - 2025 | https://doi.org/10.3389/fmed.2025.1605851 This article is part of the Research TopicUnderstanding Hair Disorders: Clinical Challenges and Emerging SolutionsView all 3 articles 1 Introduction Isolated autosomal recessive woolly hair/ hypotrichosis (ARWH, OMIM:278150) is a rare congenital hair abnormality that typically manifests at birth or within the first 2 years of life (1).
Scalp acupoint catgut embedding combined with topical 5% minoxidil tincture to improve male androgenetic alopecia: protocol for a randomised controlled trial
Introduction Androgenetic alopecia (AGA), a genetically determined disorder manifesting as male or female pattern hair loss, constitutes the most common form of progressive hair loss worldwide.1 The pathognomonic feature involves postpubertal miniaturisation of terminal hair follicles, leading to patterned hair thinning. This condition affects over 80% of men and 50% of women by age 70 years.
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