Schimmelpenning-Feuerstein-Mims Syndrome

a.k.a Linear sebaceous nevus syndrome

• Congenital neurocutaneous disorder
• Subtype of epidermal nevus syndrome or “organoid nevus syndrome”
• linear or systematized nevus sebaceus typically involving the scalp or face

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

• Neurological
  • Seizures
  • Intellectual disability
  • structural brain defects
• Skeletal Defects
• Cardiovascular defects
• Urogential defects
• Lymphatic malformations

• 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

1. Hiroto O et al. Schimmelpenning-Feuerstein-Mims syndrome induced by HRAS Gly12Ser somatic mosaic mutation: Case report and literature review. J Dermatol. 2023;50(9):1213-1215
2. Shields JA et al. Ocular manifestations of the organoid nevus syndrome. Ophthalmology 1997;104(3):549-57