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schimmelpfennig_feuerstein_mims_syndrome [2025/06/22 17:30] Scott Larsonschimmelpfennig_feuerstein_mims_syndrome [2025/06/22 17:40] (current) Scott Larson
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 ======Schimmelpenning-Feuerstein-Mims Syndrome ====== ======Schimmelpenning-Feuerstein-Mims Syndrome ======
 +a.k.a  Linear sebaceous nevus syndrome
 ====Main Features==== ====Main Features====
-  * Rare congenital neurocutaneous disorder +  * Congenital neurocutaneous disorder 
-  * Type of epidermal nevus syndrome+  * Subtype of epidermal nevus syndrome or "organoid nevus syndrome"
   * linear or systematized nevus sebaceus typically involving the scalp or face     * linear or systematized nevus sebaceus typically involving the scalp or face  
  
 ====Eye Findings==== ====Eye Findings====
-  * Coloboma +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   * Strabismus
 +  * Ptosis 
 ====Other Findings==== ====Other Findings====
   * Neurological   * Neurological
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 ====Resources==== ====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/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]]
  
 {{tag>syndrome}} {{tag>syndrome}}