Legius syndrome

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Legius syndrome
DiseasesDB 34916

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]; Associate Editor(s)-in-Chief: Kalsang Dolma, M.B.B.S.[3]

Synonyms and keywords: Neurofibromatosis, type 1-like syndrome

Overview

Legius syndrome (LS) is an autosomal dominant condition characterized by cafe au lait spots.[1]

Historical Perspective

  • It was first described in 2007 and is often mistaken for Neurofibromatosis type I (NF-1).
  • The syndrome is named after Eric Legius, Professor at the Katholieke Universiteit Leuven|Catholic University of Leuven.

Pathophysiology

Genetics

It is caused by mutations in the SPRED1 gene.[2][3][4]

Differentiating Legius syndrome from other Diseases

Neurofibromatosis type 1

  • The similarity of symptoms stem from the fact that the different genes affected in the two syndromes code for proteins that carry out a similar task in the same reaction pathway.
  • A genetic test is often the only way to make sure a person has Legius syndrome and not NF-1.
  • Because of this difference, Legius syndrome is often seen as the less severe of the two syndromes.

Diagnosis

Symptoms

Physical Examination

Skin

Head

Neurologic

Other

Other Diagnostic Studies

References


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