Legius Syndrome

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Legius Syndrome

Legius syndrome is a condition characterized by changes in skin coloring pigmentation . Almost all affected individuals have multiple cafe au lait spots, which are flat patches on the skin that are darker than the surrounding area. Another pigmentation change, freckles in the armpits and groin, may occur in some affected .A month old child was referred to our Dermatologic Unit for suspected Neurofibromatosis type NF , because of the appearance, since few days after birth, of numerous cafe au lait spots seven larger than mm no other sign evocative of NF was found. Her family history was remarkable for the .A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Legius syndrome..Legius syndrome is characterized by multiple cafe au lait macules without neurofibromas or other tumor manifestations of neurofibromatosis type NF . Additional clinical manifestations reported commonly include intertriginous freckling, lipomas, macrocephaly, and learning disabilities ADHD .Legius syndrome LS is an autosomal dominant condition characterized by cafe au lait spots. It was first described in and is often mistaken for neurofibromatosis type I NF . It is caused by mutations in the SPRED gene. It is also known as Neurofibromatosis Type like syndrome NFLS . The condition is a .The prevalence of Legius syndrome is not known. Fewer than cases have been reported to date. Prevalence may be higher than expected due to misdiagnosis of cases as neurofibromatosis type NF, see this term . The incidence of NF is reported to be , and about of patients fulfilling diagnostic criteria .Legius syndrome is an autosomal dominant disorder that shows some similarities to neurofibromatosis type I NF , which is caused by mutation in the neurofibromin gene however, Legius syndrome is less severe. Individuals with Legius syndrome typically have multiple cafe au lait spots, sometimes . UPDATED It has a new name and should not be mistaken for neurofibromatosis type , researchers say. The pigmentary signs often fool clinicians, but investigators explain that Legius syndrome is genetically distinct and caused by mutations in the SPRED .Legius Syndrome or SPRED. Legius Syndrome or SPRED. Legius syndrome is named after the Belgian doctor Professor Eric Legius who first identified it as a distinct condition. It is also called SPRED because that is the location of the genetic “spelling mistake” that gives rise to this condition. Legius syndrome has some .

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