Global InformationSchimmelpenning syndrome information
| Schimmelpenning syndrome | |
|---|---|
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| Child with Schimmelpenning syndrome | |
| Specialty | Medical genetics  |
Schimmelpenning syndrome is a neurocutaneous condition characterized by one or more sebaceous nevi, usually appearing on the face or scalp,[1] associated with anomalies of the central nervous system, ocular system, skeletal system, cardiovascular system and genitourinary system.[2]
Synonyms include: "Linear nevus sebaceous syndrome (LNSS)", "Schimmelpenning-Feuerstein-Mims syndrome", "Feuerstein-Mims syndrome", "sebaceous nevus syndrome", "Solomon syndrome", and "Jadassohn's nevus phakomatosis". "Nevus" is sometimes spelled "naevus" and "sebaceous" may also be spelled "sebaceus". "Epidermal nevus syndrome" is sometimes used as a synonym, but more often as a broader term referring to Schimmelpenning syndrome in addition to nevus comedonicus syndrome, CHILD syndrome, Becker's nevus syndrome, and phakomatosis pigmentokeratotica.[3]
The classic Schimmelpenning syndrome diagnosis comprises a triad of sebaceous nevi, seizures, and mental retardation.[2] The condition was first reported by Gustav Schimmelpenning in 1957[4] and independently reported by Feuerstein and Mims in 1962.[5]
- ^ Menascu, Shay; Donner, Elizabeth J. (2008). "Linear nevus sebaceous syndrome: case reports and review of the literature". Pediatric Neurology. 38 (3): 207–10. doi:10.1016/j.pediatrneurol.2007.10.012. ISSN 0887-8994. PMID 18279757.
- ^ a b Eisen, D.B.; Michael, D.J. (2009). "Sebaceous lesions and their associated syndromes: Part II". Journal of the American Academy of Dermatology. 61 (4): 563–78. doi:10.1016/j.jaad.2009.04.059. ISSN 0190-9622. PMID 19751880.
- ^ Burns, Tony, ed. (2004). Rook's Textbook of Dermatology (7th ed.). Malden, Mass.: Blackwell Science. ISBN 0-632-06429-3.
- ^ Schimmelpenning, G. (1957). "Klinischer Beitrag zur Symptomatology der Phacomatosen". Fortschr Röntgenstr. 87 (6): 716–20. doi:10.1055/s-0029-1213358. PMID 13512450.
- ^ Feuerstein, RC; Mims, LC (1962). "Linear nevus sebaceus with convulsions and mental retardation". Am. J. Dis. Child. 104 (6): 674–679. doi:10.1001/archpedi.1962.02080030675013. PMID 13944982.