case_images: PMC11137284_01
case_images: Clinical and genetic features of the patient. (A) Clinical manifestations of the patient included short and tightly curled woolly hair on the scalp, with noticeable scalp hair sparsity. Facial hair appeared normal. (B) Pedigree of the patient's family, illustrating the autosomal-recessive inheritance pattern of woolly hair. (C) Trichoscopy images show undulated light brown hair in the patient compared to the mother. (D) Genetic analysis via direct sequencing identified a homozygous pathogenic variant (c.736 T > A; Cys246Ser) in exon 6 of LIPH. The Cys246Ser variant is segregated within the family. (E) Scanning electron microscopic images reveal irregular and rough cuticle structures in the patient's affected hair, with oval-shaped cross-sections. (F) Clinical features of five cases. Cases 1-4 have the homozygous p.Cys246Ser variant. Case 5 has compound heterozygous variants: p.Cys246Ser and c.671C > G (p.Pro224Arg).
case_images: fmed-11-1374222-g001.jpg
case_images: PMC11137284_01_fmed-11-1374222-g001.jpg
case_images: fig1
case_images: A 3-year-old Japanese girl has short and tightly curled scalp hair since birth, with sparse scalp hair evident (Figure 1A). There was no family history of hair disorders (Figure 1B). Her hair was thinner, and the thickness was uniform (Figure 1C). The direct sequencing of the coding exons in LIPH (NM_139248.3) revealed a homozygous pathogenic variant (rs201249971;c.736 T > A; p.Cys246Ser) in exon 6 (Figure 1D), and we diagnosed the patient as ARWH with the genetic and clinical features. The scanning electron microscopic (SEM) examination revealed that her affected hair had an irregular and rough cuticle compared to her mother's hair (Figure 1E). Her hair has shown gradual growth (Figure 1F; case 1). In our clinic, we confirmed that additional cases 2-4 have the homozygous p.Cys246Ser variant, and case 5 has compound heterozygous variants: p.Cys246Ser and c.671C > G (rs1453368208; p.Pro224Arg) through segregation analysis (Figure 1F).