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Schimmelpenning-Feuerstein-Mims Syndrome
Main Features
- Rare congenital neurocutaneous disorder
- Type of epidermal nevus syndrome
- linear or systematized nevus sebaceus typically involving the scalp or face
Eye Findings
- Coloboma
- Strabismus
Other Findings
- Neurological
- Seizures
- Intellectual disability
- structural brain defects
- Skeletal Defects
- Cardiovascular defects
- Urogential defects
- Lymphatic malformations
Etiology
- Somatic mutations of the genes in the RAS/MAPK pathway
- Most commonly involved genes: HRAS, KRAS, NRAS
- usually mutation found in the lesion not in the blood