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

Yatham Jahnavi; R G Sharada; Afthab Jameela Wahab

doi:10.4103/idoj.idoj_467_22

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

Indian Dermatol Online J. 2023 Apr 4;14(3):395-398. doi: 10.4103/idoj.idoj_467_22. eCollection 2023 May-Jun.

Authors

Yatham Jahnavi¹, R G Sharada¹, Afthab Jameela Wahab¹

Affiliation

¹ Department of Dermatology, Saveetha Medical College and Hospital, Thandalam, Chennai, Tamil Nadu, India.

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 (PEX) 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 PEX 12).

Keywords: PEX gene; Zellweger syndrome; uncombable hair syndrome.

Publication types

Case Reports