Pigmentary Mosaicism: An Update

Pigmentary mosaicism was characterized by skin manifestations of hypo- or hyperpigmented lesions along Blaschko's lines, often due to chromosomal mosaicism. This condition could involve multiple systems, with phenotypic expressions in the dermal and musculoskeletal systems, and was sometimes familial. It included hair abnormalities like alopecia, nail and dental changes, eye abnormalities, joint and skeletal issues, mental retardation, seizures, and cardiac, renal, and genital defects. Diagnosis could be challenging due to similarities with other conditions, and no definitive treatment existed, though systemic examinations and management of symptoms like seizures were recommended.