LEOPARD syndrome, acronym for: Lentigines, Electrocardiographic conduction abnormalities (bundle branch block), Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia (cryptorchidism or monorchidism), Retarded growth, Deafness.
Answer: LEOPARD syndrome (also known as Cardiocutaneous syndrome, Gorlin syndrome II, Lentiginosis profusa syndrome, Progressive cardiomyopathic lentiginosis,[SUP][/SUP] Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome, or Moynahan syndrome), which is part of a group called Ras/MAPK pathway syndromes,[SUP][/SUP] - is a rare autosomal dominant,[SUP][/SUP] 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. [TABLE="class: grid, width: 500"] [TR] [TD]The RASopathies are developmental syndromes caused by germline mutations in genes that alter the Ras subfamily and Mitogen-activated protein kinase that control Signal transduction, including:[SUP][/SUP][SUP][/SUP] Capillary malformation-AV malformation syndrome Autoimmune lymphoproliferative syndrome Costello syndrome Hereditary Gingival fibromatosis type 1 Legius syndrome LEOPARD syndrome Cardiofaciocutaneous syndrome Neurofibromatosis type 1 Noonan syndrome [h=2][/h][/TD] [/TR] [/TABLE] The name of the condition is a mnemonic, originally coined in 1969,[SUP][/SUP] 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 centimetres 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.[SUP] ref - LEOPARD syndrome - Wikipedia, the free encyclopedia Multiple lentigenes can also occur with LAMB syndrome ( lentigenes, atrial myxoma, mucocutaneous myxoma, blue nevi ) & NAME syndrome ( nevi, atrial myxoma, myxoid neurofibroma & ephelides ) [/SUP] credit to Dr. Dupuytren & Dr. E M Mike for pinning the diagnosis.
