Schimmelpenning-Feuerstein-Mims Syndrome
a.k.a Linear sebaceous nevus syndrome
Main Features
- Congenital neurocutaneous disorder
- Subtype of epidermal nevus syndrome or “organoid nevus syndrome”
- linear or systematized nevus sebaceus typically involving the scalp or face
Eye Findings
Many of these findings are part of the larger syndrome grouping of epidermal nevus syndromes
- Epibulbar (limbal) choristomas
- often complex containing lacrimal gland, adipose, cartilage and neural tissue
- Corneal dermoid
- Anisocoria
- Coloboma of eyelid, choroid and/or retina
- Optic nerve hypoplasia or atrophy
- Peripapillary staphyloma
- Microphthalmia
- Strabismus
- Ptosis
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