Leopard syndrome historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamed Moubarak, M.D. [2]
Overview
LEOPARD syndrome has been described by Zeisler and Becker for the first time in 1936 with multiple lentigines, hypertelorism, pectus carinatum (protruding breastbone) and prognathism (protrusion of lower jaw) .[1] In 1962, cardiac abnormalities and short stature were first associated with the condition.[1]
Historical Perspective
LEOPARD syndrome has been described by Zeisler and Becker for the first time in 1936 with multiple lentigines, hypertelorism, pectus carinatum, and prognathism.[1] Other different descriptions were added through the years. In 1962, cardiac abnormalities and short stature were first associated with the condition.[1] In 1966, three familial cases were added, a mother, her son and daughter.[2] Another case of mother to two separate children, with different paternity of the two children, was added in 1968.[3] In 1969, Gorlin and his colleagues created the acronym 'LEOPARD' that characterized multiple lentigines syndrome.[4] It was believed as late as 2002[5] that LEOPARD syndrome was related to neurofibromatosis type I (von Recklinghausen syndrome). In fact, since both ICD9 and ICD10 lack a specific diagnosis code for LEOPARD syndrome, the diagnosis code for NF1 is still sometimes used for diagnostic purposes, although it has been shown that the gene is not linked to the NF1 locus.[6]
References
- ↑ 1.0 1.1 1.2 1.3 Zeisler, Erwin P. (1936). "GENERALIZED LENTIGO<subtitle>ITS RELATION TO SYSTEMIC NONELEVATED NEVI</subtitle>". Archives of Dermatology. 33 (1): 109. doi:10.1001/archderm.1936.01470070112010. ISSN 0003-987X.
- ↑ Walther RJ, Polansky BJ, Grotis IA (1966). "Electrocardiographic abnormalities in a family with generalized lentigo". N. Engl. J. Med. 275 (22): 1220–5. PMID 5921856.
- ↑ Matthews NL (1968). "Lentigo and electrocardiographic changes". N. Engl. J. Med. 278 (14): 780–1. PMID 5638719.
- ↑ Gorlin RJ, Anderson RC, Blaw M (1969). "Multiple lentigenes syndrome". American Journal of Diseases of Children (1960). 117 (6): 652–62. PMID 5771505. Unknown parameter
|month=ignored (help) - ↑ National Library of Medicine MeSH: C05.660.207.525
- ↑ Ahlbom BE, Dahl N, Zetterqvist P, Annerén G (1995). "Noonan syndrome with café-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus". Clin. Genet. 48 (2): 85–9. PMID 7586657.