Three-quarter facial view, first-generation patient showing slight prognathism and low set ears
Specialty
Medical genetics
Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK pathway syndromes,[2] is a rare autosomal dominant,[3] 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, which 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. It is a RASopathy.
Noonan syndrome with multiple lentigines is caused by a different missense mutation of the same gene. Noonan syndrome is fairly common (1:1,000 to 1:2,500 live births), and neurofibromatosis 1 (which was once thought to be related to NSML) is also common (1:3500); however, no epidemiological data exists for NSML.[4]
^James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. ISBN 0-7216-2921-0.
^Tidyman WE, Rauen KA (June 2009). "The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation". Current Opinion in Genetics & Development. 19 (3): 230–6. doi:10.1016/j.gde.2009.04.001. PMC 2743116. PMID 19467855.
^Coppin BD, Temple IK (1997). "Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis)". Journal of Medical Genetics. 34 (7): 582–6. doi:10.1136/jmg.34.7.582. PMC 1051000. PMID 9222968.
^Tullu MS, Muranjan MN, Kantharia VC, et al. (1 April 2000). "Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma". J Postgrad Med. 46 (2): 98–100. PMID 11013475.
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