Leopard syndrome overview: Difference between revisions
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==Overview== | ==Overview== | ||
Leopard syndrome is a rare [[autosomal dominant]],<ref>{{cite journal |author=Coppin BD, Temple IK |title=Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis) |journal=J. Med. Genet. |volume=34 |issue=7 |pages=582–6 |year=1997 |pmid=9222968 |doi=}}</ref> multisystem disease caused by a [[mutation]] in the [[protein tyrosine phosphatase]], non-receptor type 11 gene ([[PTPN11]]). The disease is a complex of features, mostly involving the skin, skeletal and cardiovascular systems, they may or may not be present in all patients. The nature of how the mutation causes each of the condition's symptoms is not well known, however research is ongoing. Related to [[Noonan syndrome]], Leopard syndrome is caused by a different [[missense mutation]] of the same gene. Leopard syndrome may also be called multiple lentigines syndrome, cardiomyopathic lentiginosis, Gorlin's syndrome II, Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome, or Moynahan syndrome. [[Noonan syndrome]] is fairly common (1:1000 to 1:2500 live births), and [[Neurofibromatosis type I|neurofibromatosis 1]] (which was once thought to be related to Leopard syndrome) is also common (1:3500), but however no epidemiologic data exists for Leopard syndrome.<ref>{{cite journal |author=Tullu MS, Muranjan MN, Kantharia VC, ''et al'' |title=Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma |journal=J Postgrad Med |volume=46 |issue=2 |pages=98–100 |year=2000 |pmid=11013475 |url=http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2000;volume=46;issue=2;spage=98;epage=100}}</ref> | Leopard syndrome is a rare [[autosomal dominant]],<ref>{{cite journal |author=Coppin BD, Temple IK |title=Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis) |journal=J. Med. Genet. |volume=34 |issue=7 |pages=582–6 |year=1997 |pmid=9222968 |doi=}}</ref> multisystem disease caused by a [[mutation]] in the [[protein tyrosine phosphatase]], non-receptor type 11 gene ([[PTPN11]]). The disease is a complex of features, mostly involving the skin, skeletal and cardiovascular systems, they may or may not be present in all patients. The nature of how the mutation causes each of the condition's symptoms is not well known, however research is ongoing. Related to [[Noonan syndrome]], Leopard syndrome is caused by a different [[missense mutation]] of the same gene. Leopard syndrome may also be called multiple lentigines syndrome, cardiomyopathic lentiginosis, Gorlin's syndrome II, Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome, or Moynahan syndrome. [[Noonan syndrome]] is fairly common (1:1000 to 1:2500 live births), and [[Neurofibromatosis type I|neurofibromatosis 1]] (which was once thought to be related to Leopard syndrome) is also common (1:3500), but however no epidemiologic data exists for Leopard syndrome.<ref>{{cite journal |author=Tullu MS, Muranjan MN, Kantharia VC, ''et al'' |title=Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma |journal=J Postgrad Med |volume=46 |issue=2 |pages=98–100 |year=2000 |pmid=11013475 |url=http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2000;volume=46;issue=2;spage=98;epage=100}}</ref> | ||
==Historical Perspective== | |||
It was first described by Zeisler and Becker with multiple [[lentigo|lentigines]], [[hypertelorism]], [[pectus carinatum]] (protruding breastbone) and [[prognathism]] (protrusion of lower jaw) in 1936.<ref name="Zeisler1936">{{cite journal|last1=Zeisler|first1=Erwin P.|title=GENERALIZED LENTIGO<subtitle>ITS RELATION TO SYSTEMIC NONELEVATED NEVI</subtitle>|journal=Archives of Dermatology|volume=33|issue=1|year=1936|pages=109|issn=0003-987X|doi=10.1001/archderm.1936.01470070112010}}</ref> | |||
In 1962, cardiac abnormalities and short stature were first associated with the condition.<ref name="Zeisler1936">{{cite journal|last1=Zeisler|first1=Erwin P.|title=GENERALIZED LENTIGO<subtitle>ITS RELATION TO SYSTEMIC NONELEVATED NEVI</subtitle>|journal=Archives of Dermatology|volume=33|issue=1|year=1936|pages=109|issn=0003-987X|doi=10.1001/archderm.1936.01470070112010}}</ref> | |||
In 1966, three familial cases were added.<ref>{{cite journal |author=Walther RJ, Polansky BJ, Grotis IA |title=Electrocardiographic abnormalities in a family with generalized lentigo |journal=N. Engl. J. Med. |volume=275 |issue=22 |pages=1220–5 |year=1966 |pmid=5921856 |doi=}}</ref> In 1968 another case of mother to two separate children, with different paternity of the two children, was added.<ref>{{cite journal |author=Matthews NL |title=Lentigo and electrocardiographic changes |journal=N. Engl. J. Med. |volume=278 |issue=14 |pages=780–1 |year=1968 |pmid=5638719 |doi=}}</ref> | |||
It was believed as late as 2002<ref>[http://www.nlm.nih.gov/cgi/mesh/2006/MB_cgi?mode=&term=LEOPARD+Syndrome&field=entry National Library of Medicine MeSH: C05.660.207.525]</ref> that Leopard syndrome was related to [[neurofibromatosis type I]] (von Recklinghausen syndrome). | |||
==References== | ==References== | ||
Revision as of 21:34, 4 September 2013
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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 is a rare autosomal dominant,[1] multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene (PTPN11). The disease is a complex of features, mostly involving the skin, skeletal and cardiovascular systems, they may or may not be present in all patients. The nature of how the mutation causes each of the condition's symptoms is not well known, however research is ongoing. Related to Noonan syndrome, Leopard syndrome is caused by a different missense mutation of the same gene. Leopard syndrome may also be called multiple lentigines syndrome, cardiomyopathic lentiginosis, Gorlin's syndrome II, Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome, or Moynahan syndrome. Noonan syndrome is fairly common (1:1000 to 1:2500 live births), and neurofibromatosis 1 (which was once thought to be related to Leopard syndrome) is also common (1:3500), but however no epidemiologic data exists for Leopard syndrome.[2]
Historical Perspective
It was first described by Zeisler and Becker with multiple lentigines, hypertelorism, pectus carinatum (protruding breastbone) and prognathism (protrusion of lower jaw) in 1936.[3] In 1962, cardiac abnormalities and short stature were first associated with the condition.[3] In 1966, three familial cases were added.[4] In 1968 another case of mother to two separate children, with different paternity of the two children, was added.[5] It was believed as late as 2002[6] that Leopard syndrome was related to neurofibromatosis type I (von Recklinghausen syndrome).
References
- ↑ Coppin BD, Temple IK (1997). "Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis)". J. Med. Genet. 34 (7): 582–6. PMID 9222968.
- ↑ Tullu MS, Muranjan MN, Kantharia VC; et al. (2000). "Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma". J Postgrad Med. 46 (2): 98–100. PMID 11013475.
- ↑ 3.0 3.1 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.
- ↑ National Library of Medicine MeSH: C05.660.207.525