ArticleCase reports in dermatology2013
A case of autosomal recessive woolly hair/hypotrichosis with alternation in severity: deterioration and improvement with age.
Article in Case reports in dermatology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 13 citations in OpenAlex.
- Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in theDermatology reports · 2026Article
- Autosomal recessive hereditary hypotrichosis simplex: A case report.JAAD case reports · 2025Article
- Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis.Frontiers in medicine · 2025Review
- Unusual Clinical Presentation of Autosomal Recessive Woolly Hair.Skin appendage disorders · 2020Article
- Clinical spectrum of woolly hair: indications for cerebral involvement.Italian journal of pediatrics · 2017Article
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Authors and funding
5 authors at 1 institution in 1 country.
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Abstract
Autosomal recessive woolly hair/hypotrichosis (ARWH/H) is a nonsyndromic hair abnormality characterized by sparse, short and curly hair (WH/H). We report the case of a 3-year-old female, with no consanguineous ancestry, who exhibited WH/H. Normal hair was observed at birth, but severe hair loss had developed within the first 6 months; however, her hair density had improved somewhat by age 3. Light microscopy showed hair shaft invaginations, and polarized light microscopy suggested complete medullary disruption of the hair. Direct sequence analysis of peripheral blood showed a homozygous missense mutation in exon 6 of the lipase H gene (LIPH: c.736T>A, p.Cys246Ser), and the exact same mutation was found in the heterozygous state in both parents. The initial deterioration followed by improvement with age observed in this case suggests that the clinical course of ARWH/H may vary among patients with the same mutation in LIPH detected in this case, indicating that additional factors may influence the effect of LIPH on hair development.
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