Schimmelpenning-Feuerstein-Mims Syndrome -CEW

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======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 
====Resources====
  - [[https://pubmed.ncbi.nlm.nih.gov/37170693/|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]]
  - [[https://pubmed.ncbi.nlm.nih.gov/9082288/ | Shields JA et al. Ocular manifestations of the organoid nevus syndrome. Ophthalmology 1997;104(3):549-57]]

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syndrome