Milroy's Disease: Difference between revisions
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{{CMG}} '''Assosciate Editor(s)-In-Chief:''' [[User: Prashanthsaddala|Prashanth Saddala M.B.B.S]]; {{JH}} | |||
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{{SK}} Milroy's syndrome; Nonne-Milroy-Meige syndrome; Hereditary lymphedema | |||
==Overview== | ==Overview== | ||
'''Milroy's disease''' is a [[familial disease]] characterised by [[lymphedema]], commonly in the legs, caused by congenital abnormalities in the [[lymphatic system]]. Disruption of the normal drainage of lymph leads to fluid accumulation and [[hypertrophy]] of soft tissues.<ref name="Andrews">{{cite book |author=James, William D.; Berger, Timothy G.; et al. |title=Andrews' Diseases of the Skin: clinical Dermatology |publisher=Saunders Elsevier |location= |year=2006 |pages=849 |isbn=0-7216-2921-0 |oclc= |doi= |accessdate=}}</ref><ref name="isbn0-7817-9516-8">{{cite book |author=David Lowell Strayer; Raphael Rubin |title=Rubin's Pathology: Clinicopathologic Foundations of Medicine 5th Edition |publisher=Lippincott Williams & Wilkins |location=Hagerstwon, MD |year=2007 |pages= |isbn=0-7817-9516-8 |oclc= |doi= |accessdate=}}</ref> | |||
==Historical Perspective== | |||
It was named by [[Sir William Osler]] for [[William Milroy]], an American physician, who described a case in 1892, though it was first described by [[Rudolf Virchow]] in 1863.<ref>{{WhoNamedIt|synd|1326}}</ref><ref>W. F. Milroy. An undescribed variety of herditary edema. New York Medical Journal, 1892, 56: 505-508.</ref> | |||
==Pathophysiology== | |||
===Genetics=== | |||
An association with the gene [[FLT4]] has been described.<ref name="pmid16924388">{{cite journal |author=Spiegel R, Ghalamkarpour A, Daniel-Spiegel E, Vikkula M, Shalev SA |title=Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3 |journal=Journal of human genetics |volume=51 |issue=10 |pages=846–50 |year=2006 |pmid=16924388 |doi=10.1007/s10038-006-0031-3 }}</ref> | |||
==Epidemiology and Demographics== | |||
This disease is more common in women. | |||
==Natural History, Complications, Prognosis== | |||
The defect in Milroy's disease is present from birth and symptoms are usually first experienced in childhood. | |||
==Diagnosis== | |||
===Symptoms=== | |||
'''Milroy's disease''' is a [[familial disease]] characterised by [[lymphedema]], commonly in the legs, caused by congenital abnormalities in the [[lymphatic system]]. Disruption of the normal drainage of lymph leads to fluid accumulation and [[hypertrophy]] of soft tissues.<ref name="Andrews">{{cite book |author=James, William D.; Berger, Timothy G.; et al. |title=Andrews' Diseases of the Skin: clinical Dermatology |publisher=Saunders Elsevier |location= |year=2006 |pages=849 |isbn=0-7216-2921-0 |oclc= |doi= |accessdate=}}</ref><ref name="isbn0-7817-9516-8">{{cite book |author=David Lowell Strayer; Raphael Rubin |title=Rubin's Pathology: Clinicopathologic Foundations of Medicine 5th Edition |publisher=Lippincott Williams & Wilkins |location=Hagerstwon, MD |year=2007 |pages= |isbn=0-7817-9516-8 |oclc= |doi= |accessdate=}}</ref> It | * [[Unilateral leg edema]]: The most common problem is one-sided leg swelling, unilateral [[edema]], which is progressive and can affect both legs. | ||
*[[Steatorrhea]]: Impaired [[intestine|intestinal]] lymphatics can cause [[steatorrhea]] due to impaired transport of [[chylomicrons]]. | |||
==Physical examination== | |||
===Gallery=== | |||
====Extremities==== | |||
<gallery> | |||
== | Image: Milroy's_disease_01.jpg| Milroy’s disease. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12 With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=293> | ||
Image: Milroy's_disease_02.jpg| Milroy’s disease. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12 With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=293> | |||
</gallery> | |||
== | ===Laboratory Findings=== | ||
Defective [[lymphocyte]] circulation can cause [[lymphopenia]] and impaired [[cell-mediated immunity]]. | |||
==External links== | ==External links== | ||
*[http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=milroy GeneReview/NIH/UW entry on Milroy Disease] | *[http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=milroy GeneReview/NIH/UW entry on Milroy Disease] | ||
[[Category:Disease]] | |||
==References== | ==References== | ||
{{ | {{Reflist|2}} | ||
{{WH}} | |||
{{WS}} | |||
Latest revision as of 11:56, 29 September 2014
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WikiDoc Resources for Milroy's Disease |
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Evidence Based Medicine |
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Clinical Trials |
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Ongoing Trials on Milroy's Disease at Clinical Trials.gov Trial results on Milroy's Disease Clinical Trials on Milroy's Disease at Google
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Guidelines / Policies / Govt |
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US National Guidelines Clearinghouse on Milroy's Disease NICE Guidance on Milroy's Disease
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Definitions |
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Patient Resources / Community |
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Patient resources on Milroy's Disease Discussion groups on Milroy's Disease Patient Handouts on Milroy's Disease Directions to Hospitals Treating Milroy's Disease Risk calculators and risk factors for Milroy's Disease
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Healthcare Provider Resources |
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Causes & Risk Factors for Milroy's Disease |
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Continuing Medical Education (CME) |
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International |
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Business |
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Experimental / Informatics |
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WikiDoc Resources for Milroy's Disease |
|
Articles |
|---|
|
Most recent articles on Milroy's Disease Most cited articles on Milroy's Disease |
|
Media |
|
Powerpoint slides on Milroy's Disease |
|
Evidence Based Medicine |
|
Clinical Trials |
|
Ongoing Trials on Milroy's Disease at Clinical Trials.gov Trial results on Milroy's Disease Clinical Trials on Milroy's Disease at Google
|
|
Guidelines / Policies / Govt |
|
US National Guidelines Clearinghouse on Milroy's Disease NICE Guidance on Milroy's Disease
|
|
Books |
|
News |
|
Commentary |
|
Definitions |
|
Patient Resources / Community |
|
Patient resources on Milroy's Disease Discussion groups on Milroy's Disease Patient Handouts on Milroy's Disease Directions to Hospitals Treating Milroy's Disease Risk calculators and risk factors for Milroy's Disease
|
|
Healthcare Provider Resources |
|
Causes & Risk Factors for Milroy's Disease |
|
Continuing Medical Education (CME) |
|
International |
|
|
|
Business |
|
Experimental / Informatics |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Assosciate Editor(s)-In-Chief: Prashanth Saddala M.B.B.S; Jesus Rosario Hernandez, M.D. [2]
Synonyms and keywords: Milroy's syndrome; Nonne-Milroy-Meige syndrome; Hereditary lymphedema
Overview
Milroy's disease is a familial disease characterised by lymphedema, commonly in the legs, caused by congenital abnormalities in the lymphatic system. Disruption of the normal drainage of lymph leads to fluid accumulation and hypertrophy of soft tissues.[1][2]
Historical Perspective
It was named by Sir William Osler for William Milroy, an American physician, who described a case in 1892, though it was first described by Rudolf Virchow in 1863.[3][4]
Pathophysiology
Genetics
An association with the gene FLT4 has been described.[5]
Epidemiology and Demographics
This disease is more common in women.
Natural History, Complications, Prognosis
The defect in Milroy's disease is present from birth and symptoms are usually first experienced in childhood.
Diagnosis
Symptoms
- Unilateral leg edema: The most common problem is one-sided leg swelling, unilateral edema, which is progressive and can affect both legs.
- Steatorrhea: Impaired intestinal lymphatics can cause steatorrhea due to impaired transport of chylomicrons.
Physical examination
Gallery
Extremities
Laboratory Findings
Defective lymphocyte circulation can cause lymphopenia and impaired cell-mediated immunity.
External links
References
- ↑ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. p. 849. ISBN 0-7216-2921-0.
- ↑ David Lowell Strayer; Raphael Rubin (2007). Rubin's Pathology: Clinicopathologic Foundations of Medicine 5th Edition. Hagerstwon, MD: Lippincott Williams & Wilkins. ISBN 0-7817-9516-8.
- ↑ Template:WhoNamedIt
- ↑ W. F. Milroy. An undescribed variety of herditary edema. New York Medical Journal, 1892, 56: 505-508.
- ↑ Spiegel R, Ghalamkarpour A, Daniel-Spiegel E, Vikkula M, Shalev SA (2006). "Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3". Journal of human genetics. 51 (10): 846–50. doi:10.1007/s10038-006-0031-3. PMID 16924388.