{Reference Type}: Case Reports
{Title}: Uncombable Hair in a Case of Zellweger Syndrome - A New Association.
{Author}: Jahnavi Y;Sharada RG;Wahab AJ;
{Journal}: Indian Dermatol Online J
{Volume}: 14
{Issue}: 3
{Year}: 2023 May-Jun
暂无{DOI}: 10.4103/idoj.idoj_467_22
{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).