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Case Reports
. 2023 Apr 4;14(3):395-398.
doi: 10.4103/idoj.idoj_467_22. eCollection 2023 May-Jun.

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

Yatham Jahnavi  1 , R G Sharada  1 , Afthab Jameela Wahab  1
Affiliations
Case Reports

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

Yatham Jahnavi et al. Indian Dermatol Online J. .

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.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
High forehead and regressing hairline
Figure 2
Figure 2
Unevenness and gritty texture of scalp hair
Figure 3
Figure 3
Dermoscopy showing irregular twisting, narrowing, empty follicles, decreased pigmentation of a few hairs [Derm lite DL4, (DermLite LLC, California, USA) Polarized mode, 10× magnification]
Figure 4
Figure 4
(a) SEM x 500 showing exposure of cortex. (b) SEM x 500 showing triangular cross-section of hair
See this image and copyright information in PMC

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