Legius syndrome: Difference between revisions

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{{SI}}
{{SI}}


{{CMG}} {{AE}} {{KD}}
{{CMG}}; {{AE}} {{KD}}


{{SK}} Neurofibromatosis, type 1-like syndrome
{{SK}} Neurofibromatosis, type 1-like syndrome
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'''[[Neurofibromatosis type 1]]'''
'''[[Neurofibromatosis type 1]]'''


*Features common in neurofibromatosis - [[Lisch nodule]]s, bone abnormalities, neurofibromas, [[optic nerve glioma]]s and malignant peripheral nerve sheath [[tumor]]s - are absent in this condition.
*Features common in neurofibromatosis - [[lisch nodule]]s, bone abnormalities, [[neurofibroma]]s, [[optic nerve glioma]]s and [[malignant peripheral nerve sheath tumor]]s - are absent in this condition.


*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.
*The similarity of symptoms stem from the fact that the different [[gene]]s 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.
*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.
*Because of this difference, Legius syndrome is often seen as the less severe of the two syndromes.
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====Skin====
====Skin====


* Nearly all patients show multiple [[Café au lait spot]]s.
* Nearly all patients show multiple [[café au lait spot]]s.
* [[Freckles]] in the armpits and/or groin
* [[Freckles]] in the armpits and/or groin
* [[Lipoma|Lipomas]]
* [[Lipoma|Lipomas]]
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*[[Genetic testing]] is necessary to identify the [[syndrome]].
*[[Genetic testing]] is necessary to identify the [[syndrome]].
*The test checks for loss of function [[mutations]] in the [[SPRED1 gene]].
*The test checks for loss of function [[mutations]] in the SPRED1 gene.


== References ==
== References ==
{{reflist|2}}
{{reflist|2}}


[[Category:Genodermatoses]]
[[Category:Dermatology]]
[[Category:Developmental neuroscience]]
[[Category:Developmental neuroscience]]
[[Category:Neuro-cardio-facial-cutaneous syndromes]]
[[Category:Disease]]
[[Category:Disease]]


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Latest revision as of 15:36, 3 August 2012

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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