Article
A New Case Linking a Somatic NRAS Variant to Encephalocraniocutaneous Lipomatosis.
American journal of medical genetics. Part A - 1 Dec 2025
Azrak Omar, Hung Sheng-Che, Wooten Nathaniel G, Hildebrandt Clara C
Abstract excerpt
Encephalocraniocutaneous lipomatosis (ECCL) is a rare somatic disorder caused by mutations in various genes of the RAS-MAPK pathway. Distinctive features of ECCL include nevus psiloliparus, scalp alopecia, ocular choristomas, and intracranial lipomas. ECCL is most commonly associated with FGFR1 and KRAS mutations. An NRAS variant causing ECCL has only been reported in the literature once. We present the case of a...
Topics
- Humans
- Lipomatosis
- Female
- Neurocutaneous Syndromes
- Membrane Proteins
- GTP Phosphohydrolases
- Infant
- Mutation
- Phenotype
- Genetic Predisposition to Disease
- Eye Diseases