Familial hypotrichosis simplex of the scalp associated with a novel heterozygous nonsense variant in CDSN

This report describes a case of an 18-year-old white British woman with HTSS1, whose phenotype was characterized by the inability to grow long scalp hair. Whole exome sequencing identified a novel pathogenic heterozygous nonsense variant (NM_001264.4: c.484C>T, NP_001255.3: p.Gln162Ter) in CDSN, which encodes corneodesmosin. HTSS1, described in this patient's case, showed distinct clinical and histopathological features, thereby expanding the genotype-phenotype paradigm of HTSS1.

Automated summary

This report presents a case study of an 18-year-old white British woman with HTSS1, who had the inability to grow long scalp hair. Whole exome sequencing identified a novel pathogenic nonsense variant in the CDSN gene, which encodes corneodesmosin. This case expands the genotype-phenotype paradigm of HTSS1 by describing distinct clinical and histopathological features.