Indian Dermatology Online Journal (Jan 2023)

Uncombable hair in a case of Zellweger syndrome – A new association

  • Yatham Jahnavi,
  • R G Sharada,
  • Afthab Jameela Wahab

DOI
https://doi.org/10.4103/idoj.idoj_467_22
Journal volume & issue
Vol. 14, no. 3
pp. 395 – 398

Abstract

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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).

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