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.[2][3]
It was named by Sir William Osler for William Milroy, a Canadian physician, who described a case in 1892, though it was first described by Rudolf Virchow in 1863.[4][5]
The most common presentation of Milroy's disease is unilateral lower extremity lymphedema, and may also be accompanied by hydrocele. 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]
Geneticsedit
Ohio native Fanny Mills suffered from Milroy's disease. She appeared in dime museums in the 1880s. Audiences flocked to see her. As a result, Mills could sometimes earn as much as $4,000 a week.[7]
This disease is more common in women and an association with the gene FLT4 has been described.[8] 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 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 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 lymphedema tarda.[9]
Diagnosisedit
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]
Prognosisedit
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 of lymphangiosarcoma or angiosarcoma in patients with persistent lymphedema. Some patients may develop protein-losing enteropathy and visceral involvement. Chylous ascites and chylothorax rarely occur.[citation needed]
^James WD, Berger TG, Elston DM, Andrews GC, Odom RB (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. p. 849. ISBN978-0-7216-2921-6. OCLC 937244604.
^Strayer DL, Rubin R (2007). Rubin's Pathology: Clinicopathologic Foundations of Medicine (5th ed.). Hagerstwon, MD: Lippincott Williams & Wilkins. ISBN978-0-7817-9516-6.
^Milroy WF (1892). "An undescribed variety of hereditary edema". New York Medical Journal. 56: 505–8.
^"Milroy Disease". United States Library of Medicine. Retrieved 1 March 2014.
^Fraga, Kaleena Fraga (September 8, 2021). "The Tragic Life Of Fanny Mills, The Legendary 'Ohio Big Foot Girl' Of Sideshow Fame". allthatsinteresting.com. Retrieved June 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.
^ ab"Hereditary Lymphedema". Retrieved 1 September 2016.
^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.
Further readingedit
Brice, Glen W.; Mansour, Sahar; Ostergaard, Pia; Connell, Fiona; Jeffery, Steve; Mortimer, Peter (1993). "Milroy Disease". GeneReviews. University of Washington, Seattle. PMID 20301417. Retrieved 15 March 2019.
February 16, 2024
milroy, disease, familial, disease, characterized, lymphedema, commonly, legs, caused, congenital, abnormalities, lymphatic, system, disruption, normal, drainage, lymph, leads, fluid, accumulation, hypertrophy, soft, tissues, other, namesmilroy, disease, nonne. 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 2 3 Milroy s diseaseOther namesMilroy disease Nonne Milroy Meige syndrome Hereditary lymphedema 1 This condition is inherited in an autosomal dominant manner SpecialtyMedical genetics It was named by Sir William Osler for William Milroy a Canadian physician who described a case in 1892 though it was first described by Rudolf Virchow in 1863 4 5 Contents 1 Presentation 2 Genetics 3 Diagnosis 4 Prognosis 5 See also 6 References 7 Further readingPresentation editThe most common presentation of Milroy s disease is unilateral lower extremity lymphedema and may also be accompanied by hydrocele 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 edit nbsp Ohio native Fanny Mills suffered from Milroy s disease She appeared in dime museums in the 1880s Audiences flocked to see her As a result Mills could sometimes earn as much as 4 000 a week 7 This disease is more common in women and an association with the gene FLT4 has been described 8 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 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 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 lymphedema tarda 9 Diagnosis editOnly 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 editMilroy 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 of lymphangiosarcoma or angiosarcoma in patients with persistent lymphedema Some patients may develop protein losing enteropathy and visceral involvement Chylous ascites and chylothorax rarely occur citation needed See also editList of cutaneous conditionsReferences edit 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 amp Wilkins ISBN 978 0 7817 9516 6 synd 1326 at Who 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 Retrieved 1 March 2014 Fraga Kaleena Fraga September 8 2021 The Tragic Life Of Fanny Mills The Legendary Ohio Big Foot Girl Of Sideshow Fame allthatsinteresting com Retrieved June 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 Retrieved 1 September 2016 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 Further reading editBrice Glen W Mansour Sahar Ostergaard Pia Connell Fiona Jeffery Steve Mortimer Peter 1993 Milroy Disease GeneReviews University of Washington Seattle PMID 20301417 Retrieved 15 March 2019 Retrieved from https en wikipedia org w index php title Milroy 27s disease amp oldid 1198261052, wikipedia, wiki, book, books, library,
