legius syndrome - Health Topics
Kaleido Scope: A Discussion of Revised Diagnostic Criteria Released for NF1 and Legius Syndrome A Discussion of Revised Diagnostic Criteria Released for NF1 and Legius Syndrome Legius syndrome is a rare genetic disorder that was first described in 2007 [1]. It is also known as neurofibromatosis type 1-like syndrome [2]. Legius syndrome is classically characterised by multiple light-brown macules, known as café-au-lait macules [3].
Understanding the Context
Unlike neurofibromatosis type 1, there are no tumours found in Legius syndrome. Legius syndrome Patients with Legius syndrome have multiple café-au-lait macules (> 5mm in children and > 15 mm in adults). Axillary freckling less common. They may rarely have macrocephaly, cognitive disabilities, and several congenital malformations such as Noonan-like facies, pectus excavatum/carinatum, and lipomas.
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McCune Albright syndrome What is McCune–Albright syndrome? McCune–Albright syndrome (MAS) is a rare condition that was first described in 1937. It is sometimes called Albright syndrome. The classic triad consists of 3 features: Patchy skin pigmentation Bone abnormalities Endocrine (hormonal) abnormalities, in particular early puberty At least 2 of these features need to be present to diagnose the condition. MAS is ...
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