Uncombable Hair in a Case of Zellweger Syndrome - A New Association

Overview

Journal Indian Dermatol Online J

Specialty Dermatology

Date 2023 Jun 2

PMID 37266105

Authors

Yatham Jahnavi

R G Sharada

Afthab Jameela Wahab

Affiliations

Soon will be listed here.

Abstract

Zellweger syndrome (ZS) is a rare autosomal recessive, peroxisomal biogenesis disorder (PBD) that occurs due to a mutation in any of the thirteen peroxin ) genes. It is reported to manifest with varying degrees of severity, ranging from non-specific gastrointestinal abnormalities, nail and enamel defects to multisystem involvement (cerebro-hepato-renal syndrome, eye, ear, and neurological abnormalities). Uncombable hair syndrome (UHS) is a rare hair shaft disorder characterized by dry, frizzy, unmanageable hair. Diagnosis of UHS can be confirmed by scanning electron microscopy (SEM), which reveals a triangular cross-section of the hair. We report a case of UHS with a hitherto unreported association of ZS (due to a homozygous mutation of 12).

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