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Noonan Syndrome with Multiple Lentigines (NSML) (also known as LEOPARD syndrome, Cardiocutaneous syndrome, Gorlin syndrome II, Lentiginosis profusa syndrome, Progressive cardiomyopathic lentiginosis, Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome, or Moynahan syndrome), which is part of a group called Ras/MAPK pathway syndromes, — is a rare autosomal dominant, 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. ==Signs and symptoms== An alternative name of the condition, LEOPARD syndrome, is a mnemonic, originally coined in 1969, as the condition is characterized by some of the following seven conditions, the first letters of which spell LEOPARD, along with the characteristic "freckling" of the skin, caused by the lentigines that is reminiscent of the large cat. * Lentigines — Reddish-brown to dark brown macules (surface skin lesion) generally occurring in a high number (10,000+) over a large portion of the skin, at times higher than 80% coverage. These can even appear inside the mouth (buccal), or on the surface of the eye (scleral). These have irregular borders and range in size from 1 mm in diameter to café-au-lait spots, several centimeters in diameter. Also, some areas of vitiligo-like hypopigmentation may be observed. * Electrocardiographic conduction abnormalities: Generally observed on an electrocardiograph as a bundle branch block. * Ocular hypertelorism: Wideset eyes, which lead to a similar facial resemblance between patients. Facial abnormalities are the second highest occurring symptom after the lentigines. Abnormalities also include: broad nasal root, prognathism (protruding lower jaw), or low-set, possibly rotated, ears. * Pulmonary stenosis: Narrowing of the pulmonary artery as it exits the heart. Other cardiac abnormalities may be present, including aortic stenosis, or mitral valve prolapse. * Abnormal genitalia: usually cryptorchidism (retention of testicles in body) or monorchism (single testicle). In female patients, this presents as missing or single ovaries, much harder by nature to detect. Ultrasound imaging is performed at regular intervals, from the age of 1 year, to determine if ovaries are present. * Retarded growth: Slow, or stunted growth. Most newborns with this syndrome are of normal birth weight and length, but will often slow within the first year. * Deafness: Sensorineural (nerve deafness). The presence of all of these hallmarks is not needed for a diagnosis. A clinical diagnosis is considered made when, with lentigines present there are 2 other symptoms observed, such as ECG abnormalities and ocular hypertelorism, or without lentigines, 3 of the above conditions are present, with a first-degree relative (i.e. parent, child, sibling) with a clinical diagnosis. *Additional dermatologic abnormalities (axillary freckling, localized hypopigmentation, interdigital webbing, hyperelastic skin) *Mild mental retardation is observed in about 30% of those affected with the syndrome *Nystagmus (involuntary eye movements), seizures, or hyposmia (reduced ability to smell) has been documented in a few patients *In 2004, a patient was reported with recurrent upper extremity aneurysms that required surgical repairs. *In 2006, a NSML patient was reported with acute myelogenous leukemia. Due to the rarity of the syndrome itself, it is hard to determine whether certain additional diseases are actually part of the syndrome. With a base population of possibly less than one thousand individuals, one or two outlying cases can skew the statistical population very quickly. image:Leopardsyn2e.jpg|Hand of 37-year-old patient showing interdigital webbing Image:Leopardsyn2.jpg|37-year-old patient (second generation), exhibiting hypertelorism, broad nasal root, slight ptosis Image:Leopardsyn2f.jpg|Thirty-seven-year-old patient demonstrating hyperelasticity Image:Leopardsyn3.jpg|21-month-old, third generation patient, confirmed by genetic tests as (Y279C ), exhibiting ocular hyperteliorism, cephalofacial similarity. Image:Leopardsyn2b.jpg|Torso of thirty-seven-year-old, second-generation patient, exhibiting lentiginosis. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Noonan Syndrome with Multiple Lentigines」の詳細全文を読む スポンサード リンク
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