Work

Familial Woolly Hair

Year: 2025
Type: article
Study design: Case Report
Abstract: ABSTRACT: A 10-year-old Indian female presented with persistently short, sparse scalp hair since birth, with no subsequent growth. Clinical examination revealed tightly coiled, light-colored, and diffusely thinned scalp hair, along with partial loss of the lateral third of the eyebrows. The disease is a rare genetic disorder characterized by structural abnormalities of the hair shaft, presenting as tightly curled hair, and exists in two primary forms: autosomal dominant hereditary woolly hair and the rarer autosomal recessive familial woolly hair. It has also been associated with keratosis pilaris, canaliform nail dystrophy, interdental spacing, recurrent bullous impetigo, and a few diseases like Naxos disease and Carvajal syndrome. This rare case, involving multiple siblings in an Indian setting, highlights the clinical spectrum of congenital woolly hair and underscores the need for further genetic investigations to elucidate its molecular basis.
Authors: Shrishti Singh, Vidyansh Singh, Aayush Gupta
Language: English
Subfield: Urology
Field: Medicine
Open Access status: hybrid
OpenAlex ID: W4415914726
FWCI:
Cites: 2
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