RESUMO
Linear and whorled nevoid hypermelanosis is a rare skin pigmentation disorder, characterized by linear streaks and whorls of hyperpigmented macules along Blaschko's lines. Lesions are commonly restricted to the trunk, neck, and extremities, sparing the face, palms, soles, and mucosae. Associated with this, certain cardiovascular, musculoskeletal, neurological, and developmental anomalies have been reported in the literature. Herein, we present a rare case of linear and whorled nevoid hypermelanosis involving the face, with musculoskeletal, genital, aural, and ocular abnormalities.
RESUMO
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).