Milroy's disease

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Milroy's disease
Classification and external resources
Specialty medical genetics
ICD-10 Q82.0
ICD-9-CM 757.0
OMIM 153100
DiseasesDB 8228
eMedicine med/1482
MeSH D008209
GeneReviews

Milroy's disease (MD) is a familial disease characterized 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] It is also known as Milroy disease, Nonne-Milroy-Meige syndrome and hereditary lymphedema.[3]

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.[4][5]

Description[edit]

The most common presentation of Milroy Disease is bilateral lower extremity lymphedema, and may also be accompanied by hydrocele.[6]

This disease is more common in women and an association with the gene FLT4 has been described.[7] FLT4 codes for VEGFR-3, which is implicated in development of the lymphatic system.

Milroy's disease is also known as primary or hereditary lymphedema type 1A or early onset lymphedema. It is a very rare disease with only about 200 cases reported in the medical literature. Milroy's disease is an autosomal dominant condition caused by a mutation in the FLT4 gene which encodes of the vascular endothelial growth factor receptor 3 (VEGFR-3) gene located on the long arm (q) on chromosome 5 (5q35.3).[8]

In contrast to Milroy's disease (early onset lymphedema type 1A,) which typically has its onset of swelling and edema at birth or during early infancy, hereditary lymphedema type II, known as Meige disease, has its onset around the time of puberty. Meige disease is also an autosomal dominant disease. It has been linked to a mutations in the ‘forkhead’ family transcription factor (FOXC2) gene located on the long arm of chromosome 16 (16q24.3). About 2000 cases have been identified. A third type of hereditary lymphedema, that has an onset after the age of 35 is known as lymph-edema tarda.[9]

Prognosis[edit]

MD does not normally affect life expectancy.[10]

See also[edit]

References[edit]

  1. ^ 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. 
  2. ^ David Lowell Strayer; Raphael Rubin (2007). Rubin's Pathology: Clinicopathologic Foundations of Medicine (5th ed.). Hagerstwon, MD: Lippincott Williams & Wilkins. ISBN 0-7817-9516-8. 
  3. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
  4. ^ synd/1326 at Who Named It?
  5. ^ W. F. Milroy. An undescribed variety of hereditary edema. New York Medical Journal, 1892, 56: 505-508.
  6. ^ "Milroy Disease". United States Library of Medicine. Retrieved March 2014.  Check date values in: |access-date= (help)
  7. ^ 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. 
  8. ^ "Hereditary Lymphedema". Retrieved Sep 2016.  Check date values in: |access-date= (help)
  9. ^ Template:IBID 8
  10. ^ Rockson, Stanley G. (2010-10-01). "Causes and consequences of lymphatic disease". Annals of the New York Academy of Sciences. 1207: E2–E6. doi:10.1111/j.1749-6632.2010.05804.x. ISSN 1749-6632. 

External links[edit]