Uncombable Hair in a Case of Zellweger Syndrome - A New Association.
| Autor: | Jahnavi Y; Department of Dermatology, Saveetha Medical College and Hospital, Thandalam, Chennai, Tamil Nadu, India., Sharada RG; Department of Dermatology, Saveetha Medical College and Hospital, Thandalam, Chennai, Tamil Nadu, India., Wahab AJ; Department of Dermatology, Saveetha Medical College and Hospital, Thandalam, Chennai, Tamil Nadu, India. |
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| Jazyk: | angličtina |
| Zdroj: | Indian dermatology online journal [Indian Dermatol Online J] 2023 Apr 04; Vol. 14 (3), pp. 395-398. Date of Electronic Publication: 2023 Apr 04 (Print Publication: 2023). |
| DOI: | 10.4103/idoj.idoj_467_22 |
| Abstrakt: | 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). Competing Interests: There are no conflicts of interest. (Copyright: © 2023 Indian Dermatology Online Journal.) |
| Databáze: | MEDLINE |
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