Encephalocraniocutaneous lipomatosis is a neurocutaneous disorder characterized by ocular abnormalities, patchy and asymmetric skin lesions, and central nervous system abnormalities.
The most characteristic skin anomaly is nevus psiloliparus (fatty tissue located on the scalp, causing alopecia). Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or scalp aplasia, periocular skin papillomas, and pigmentary anomalies following Blaschko’s lines. Ocular choristomas are also present in 80% of patients and can be unilateral or bilateral. Characteristic features of the CNS are intracranial and intraspinal lipomas and, less frequently, cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. Seizures and intellectual disability are common, but one-third of affected individuals have a regular intellect. Skeletal manifestations include bone cysts and mandibular tumors, such as odontomas, osteomas, and ossifying fibromas.
It is caused by mosaic somatic mutations in the FGFR1 gene.
