Milroy's disease

Milroy's disease
Milroy's disease
Other names	Milroy disease,Nonne-Milroy-Meige syndrome,Hereditary lymphedema
	This condition is inherited in an autosomal dominant manner.
Specialty	Medical genetics

Milroy's disease(MD) is afamilial diseasecharacterized bylymphedema,commonly in the legs, caused by congenital abnormalities in thelymphatic system.Disruption of the normal drainage of lymph leads to fluid accumulation andhypertrophyof soft tissues.^[2]^[3]

It was named bySir William Oslerfor William Milroy, a Canadian physician, who described a case in 1892, though it was first described byRudolf Virchowin 1863.^[4]^[5]

Presentation

The most common presentation of Milroy's disease is unilateral lower extremitylymphedema,and may also be accompanied byhydrocele.Males and females may have upslanting toenails, deep creases in the toes, wart-like growths (papillomas), and prominent leg veins. Some individuals develop non-contagious skin infections called cellulitis that can damage the thin tubes that carry lymph fluid (lymphatic vessels). Episodes of cellulitis can cause further swelling in the lower limbs.^[6]

Genetics

This disease is more common in women and an association with the geneFLT4has been described.^[8]FLT4 codes forVEGFR-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 anautosomal dominantcondition caused by a mutation in theFLT4gene which encodes the vascular endothelial growth factor receptor 3 (VEGFR-3) gene located on the long arm (q) on chromosome 5 (5q35.3).^[9]

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 lymphedematype II, known asMeige 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 lymphedema tarda.^[9]

Diagnosis

Only conservative measures can be taken. Certain treatments for lymphedema disorders may possibly alleviate specific symptoms; no cure and it is usually congenital. Genetic counseling can be done. May have similar health conditions, delays, disorders, and physical traits associated with other lymphatic genetic diseases and chromosome #5 abnormalities.^{[citation needed]}

Prognosis

Milroy's disease does not normally affect life expectancy.^[10]

Medscape states patients may have recurrent streptococcal cellulitis and lymphangitis, with subsequent hospitalizations for antibiotic therapy. A rare complication is the appearance oflymphangiosarcomaorangiosarcomain patients with persistent lymphedema. Some patients may develop protein-losingenteropathyand visceral involvement. Chylousascitesandchylothoraxrarely occur.^{[citation needed]}

References

^Bolognia JL, Jorizzo JL, Rapini RP (2007).Dermatology: 2-Volume Set.St. Louis: Mosby.ISBN 978-1-4160-2999-1.OCLC 1058487222.^{[page needed]}
^James WD, Berger TG, Elston DM, Andrews GC, Odom RB (2006).Andrews' Diseases of the Skin: clinical Dermatology.Saunders Elsevier. p. 849.ISBN 978-0-7216-2921-6.OCLC 937244604.
^Strayer DL, Rubin R (2007).Rubin's Pathology: Clinicopathologic Foundations of Medicine(5th ed.). Hagerstwon, MD: Lippincott Williams & Wilkins.ISBN 978-0-7817-9516-6.
^synd/1326atWho Named It?
^Milroy WF (1892). "An undescribed variety of hereditary edema".New York Medical Journal.56:505–8.
^"Milroy Disease".United States Library of Medicine.Retrieved1 March2014.
^Fraga, Kaleena Fraga (September 8, 2021)."The Tragic Life Of Fanny Mills, The Legendary 'Ohio Big Foot Girl' Of Sideshow Fame".allthatsinteresting.RetrievedJune 3,2023.
^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.
^^a ^b"Hereditary Lymphedema".Retrieved1 September2016.
^Rockson SG (October 2010). "Causes and consequences of lymphatic disease".Annals of the New York Academy of Sciences.1207 Suppl 1: E2-6.Bibcode:2010NYASA1207E...2R.doi:10.1111/j.1749-6632.2010.05804.x.PMID 20961302.S2CID 12747953.

Classification	D ICD-11:BD93.0 ICD-10:Q82.0 ICD-9-CM:757.0 OMIM:153100 MeSH:D008209 DiseasesDB:8228
External resources	eMedicine:med/1482 GeneReviews:Milroy Disease

v t e Lymphatic disease:organ and vessel diseases
Thymus	Abscess Hyperplasia Hypoplasia DiGeorge syndrome Ectopic thymus Thymoma Thymic carcinoma
Spleen	Asplenia Asplenia with cardiovascular anomalies Accessory spleen Polysplenia Wandering spleen Splen Omega ly Banti's syndrome Splenic infarction Splenic tumor
Lymph node	Lymphadenopathy Generalized lymphadenopathy Castleman's disease Intranodal palisaded myofibroblastoma Kikuchi disease Tonsils seeTemplate:Respiratory pathology
Lymphatic vessels	Lymphangitis Lymphangiectasia Lymphedema Primary lymphedema Congenital lymphedema Lymphedema praecox Lymphedema tarda Lymphedema–distichiasis syndrome Milroy's disease Secondary lymphedema Bullous lymphedema Factitial lymphedema Postinflammatory lymphedema Postmastectomy lymphangiosarcoma Waldmann disease