Linear nevus sebaceous syndrome. KRAS and HRAS gene sequencing [2 genes]

Linear sebaceous nevus syndrome presents a sebaceous nevus associated with extra-cutaneous manifestations. The sebaceous nevus is typically present at birth as a plaque with no hair, Blaschko´s lines distribution, and salmon color, generally located on the head (centrofacial). Alterations of the central nervous system are the most frequent extra-cutaneous anomalies, with intellectual disability and epileptic seizures being the most common findings, and structural brain anomalies may also occur. This syndrome can affect other organs, including ophthalmological and skeletal alterations (prominent forehead, skeletal hypoplasia, scoliosis and kyphoscoliosis, vitamin D-resistant rickets, and hypophosphatemia). Other occasional findings include involvement of the endocrine, cardiovascular, urogenital systems, and oral anomalies (ORPHA:2612).

Linear nevus sebaceous syndrome: unknown (ORPHA:2612)