Clinical, cosmetic and investigational dermatology · 2025
Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients.
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Cui Can, Chen Xi, Zhang Ying-Zi, Ni Jian-Yi, Ma Jin-Yuan, Wei Ai-Hua
Аннотация
BACKGROUND: Autosomal recessive woolly hair (ARWH) is a rare genetic disorder characterized by tightly curled, sparse hair with variable degrees of hypopigmentation and slow growth. Pathogenic variants in the LIPH gene are a major cause, but information on Chinese patients remains limited.
METHODS: Six unrelated patients with congenital woolly hair were analyzed. Clinical features were assessed by examination, trichoscopy, and scalp biopsy. Whole-exome sequencing (WES) and Sanger confirmation were performed, and variants were classified according to ACMG guidelines.
RESULTS: All patients presented with sparse, curly hair since early childhood. WES identified biallelic LIPH variants in all cases. Three patients were homozygous for c.742C>A (p.H248N), one was homozygous for c.454G>A (p.G152R), and two were compound heterozygotes. Patients carrying the c.454G>A (p.G152R) variant tended to show milder hair loss compared with those with c.742C>A (p.H248N), suggesting a potential genotype-phenotype relationship.
CONCLUSION: This study broadens the understanding of LIPH-related ARWH in the Chinese population. The c.454G>A (p.G152R) variant may represent a recurrent allele among Chinese patients with ARWH.
METHODS: Six unrelated patients with congenital woolly hair were analyzed. Clinical features were assessed by examination, trichoscopy, and scalp biopsy. Whole-exome sequencing (WES) and Sanger confirmation were performed, and variants were classified according to ACMG guidelines.
RESULTS: All patients presented with sparse, curly hair since early childhood. WES identified biallelic LIPH variants in all cases. Three patients were homozygous for c.742C>A (p.H248N), one was homozygous for c.454G>A (p.G152R), and two were compound heterozygotes. Patients carrying the c.454G>A (p.G152R) variant tended to show milder hair loss compared with those with c.742C>A (p.H248N), suggesting a potential genotype-phenotype relationship.
CONCLUSION: This study broadens the understanding of LIPH-related ARWH in the Chinese population. The c.454G>A (p.G152R) variant may represent a recurrent allele among Chinese patients with ARWH.