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

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 ename...

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Bibliographic Details
Published inIndian Dermatology Online Journal Vol. 14; no. 3; pp. 395 - 398
Main Authors Jahnavi, Yatham, Sharada, R, Wahab, Afthab
Format Journal Article
LanguageEnglish
Published India Wolters Kluwer India Pvt. Ltd 01.05.2023
Medknow Publications and Media Pvt. Ltd
Wolters Kluwer - Medknow
Wolters Kluwer Medknow Publications
Subjects
Case Report
Kidney diseases
Nervous system diseases
pex gene
uncombable hair syndrome
zellweger syndrome
Zellweger syndrome
uncombable hair syndrome
PEX gene
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Summary: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).
ISSN:2229-5178
2249-5673
DOI:10.4103/idoj.idoj_467_22