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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===Genetics=== | ===Genetics=== | ||
It is caused by mutations in the | It is caused by mutations in the SPRED1 gene.<ref>[http://ghr.nlm.nih.gov/gene/SPRED1 "SPRED1", Genetics Home Reference, [[National Institutes of Health]]]</ref><ref>[http://www.medscape.com/viewarticle/712643 "Legius Syndrome Often Mistaken for Neurofibromatosis Type 1", by Allison Gandley, November 18, 2009, [[Medscape]]]</ref><ref>[http://www.aruplab.com/Testing-Information/resources/TechnicalBulletins/Legius%20Syndrome%20%28SPRED1%29%20Sequencing%20&%20%28NF1%29%20Sequencing%20Exon%2022%20%28Exon%2017%29.pdf "Legius Syndrome (SPRED1) Sequencing & (NF1) Sequencing Exon 22 (Exon 17)", May 2010, [[ARUP Laboratories]]]</ref> | ||
==Differentiating Legius syndrome from other Diseases== | ==Differentiating Legius syndrome from other Diseases== | ||
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'''[[Neurofibromatosis type 1]]''' | '''[[Neurofibromatosis type 1]]''' | ||
*Features common in neurofibromatosis - [[ | *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 | *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 [[ | * 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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===Other Diagnostic Studies=== | ===Other Diagnostic Studies=== | ||
*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. | ||
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{{reflist|2}} | {{reflist|2}} | ||
[[Category: | [[Category:Dermatology]] | ||
[[Category:Developmental neuroscience]] | [[Category:Developmental neuroscience]] | ||
[[Category:Disease]] | [[Category:Disease]] | ||
{{WikiDoc Help Menu}} | {{WikiDoc Help Menu}} | ||
{{WS}} | {{WS}} | ||
Latest revision as of 15:36, 3 August 2012
| Legius syndrome | |
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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
- Features common in neurofibromatosis - lisch nodules, bone abnormalities, neurofibromas, optic nerve gliomas and malignant peripheral nerve sheath tumors - 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.
- 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
- Nearly all patients show multiple café au lait spots.
- Freckles in the armpits and/or groin
- Lipomas
Head
Neurologic
Other
Other Diagnostic Studies
- Genetic testing is necessary to identify the syndrome.
- The test checks for loss of function mutations in the SPRED1 gene.
References
- ↑ "Legius syndrome", Genetics Home Reference, National Institutes of Health
- ↑ "SPRED1", Genetics Home Reference, National Institutes of Health
- ↑ "Legius Syndrome Often Mistaken for Neurofibromatosis Type 1", by Allison Gandley, November 18, 2009, Medscape
- ↑ "Legius Syndrome (SPRED1) Sequencing & (NF1) Sequencing Exon 22 (Exon 17)", May 2010, ARUP Laboratories
- ↑ 5.0 5.1 [1], Pagon RA, Bird TD, Dolan CR, et al.