A Case of Autosomal Recessive Woolly Hair/Hypotrichosis with Alternation in Severity: Deterioration and Improvement with Age
نویسندگان
چکیده
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.
منابع مشابه
Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family
Autosomal recessive hypotrichosis simplex with woolly hair is a rare dermatological disorder, characterized by sparse hair and tightly curled hair. We report on a new family affected with this disorder which has not previously been reported. In this family, 2 siblings were affected. We believe that the disorder is not rare, but is possibly misdiagnosed, and hence underreported.
متن کاملA novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair
Mutations in the lipase member H (LIPH) gene cause autosomal recessive hypotrichosis with woolly hair. We report herein on five consanguineous families from Pakistan segregating hypotrichosis and woolly hair. Genetic investigation using polymorphic microsatellite markers revealed homozygosity for a region spanning the HYPT7 locus on chromosome 3 in affected individuals of all five families. Seq...
متن کاملHighly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
Mutations in LIPH cause of autosomal recessive woolly hair/hypotrichosis (ARWH), and the 2 missense mutations c.736T>A (p.Cys246Ser) and c.742C>A (p.His248Asn) are considered prevalent founder mutations for ARWH in the Japanese population. To reveal genotype/phenotype correlations in ARWH cases in Japan and the haplotypes in 14 Japanese patients from 14 unrelated Japanese families. 13 patients ...
متن کاملAutosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
Pure hair and nail ectodermal dysplasia (PHNED) comprises a heterogeneous group of rare heritable disorders characterized by brittle hair, hypotrichosis, onychodystrophy and micronychia. Autosomal recessive (AR) PHNED has previously been associated with mutations in either KRT85 or HOXC13 on chromosome 12p11.1-q14.3. We investigated a consanguineous Pakistani family with AR PHNED linked to the ...
متن کاملDesmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.
Mutations in genes encoding for desmosomal components are associated with a broad spectrum of phenotypes comprising skin and hair abnormalities and account for 45-50% of cases of arrhythmogenic right ventricular cardiomyopathy. Today, more than 120 dominant and recessive desmoplakin (DSP) gene mutations have been reported to be associated with skin, hair and/or heart defects. Here we report on ...
متن کامل