Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients.

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.