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| schimmelpfennig_feuerstein_mims_syndrome [2025/06/22 11:30] – Scott Larson | schimmelpfennig_feuerstein_mims_syndrome [2026/06/29 08:19] (current) – [Main Features] 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 | + | * Congenital |
| - | * Type of epidermal nevus syndrome | + | * Subtype |
| - | * linear or systematized nevus sebaceus typically involving the scalp or face | + | * linear or systematized nevus sebaceus typically involving the scalp or face |
| + | * linear, waxy, alopecic plaque typically of the scalp or face | ||
| + | * 2.4% lifetime risk of malignant transformation | ||
| + | * **Classic Triad** | ||
| + | * Seizures | ||
| + | * Intellectual disability/ | ||
| + | * Hemimegalencephaly | ||
| + | * often ipsilateral to the cutaneous nevus | ||
| + | * gyral malformations, | ||
| ====Eye Findings==== | ====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 | ||
| + | | ||
| + | * Optic nerve hypoplasia or atrophy | ||
| + | * Choroidal osteomas | ||
| + | * Peripapillary staphyloma | ||
| + | * Microphthalmia | ||
| * Strabismus | * Strabismus | ||
| + | * Ptosis | ||
| + | * Cortical visual impairment | ||
| ====Other Findings==== | ====Other Findings==== | ||
| - | * Neurological | ||
| - | * Seizures | ||
| - | * Intellectual disability | ||
| - | * structural brain defects | ||
| * Skeletal Defects | * Skeletal Defects | ||
| * Cardiovascular defects | * Cardiovascular defects | ||
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| ====Resources==== | ====Resources==== | ||
| - [[https:// | - [[https:// | ||
| + | - [[https:// | ||
| {{tag> | {{tag> | ||