- Milroy's disease
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Milroy's disease Classification and external resources ICD-10 Q82.0 ICD-9 757.0 OMIM 153100 DiseasesDB 8228 eMedicine med/1482 MeSH D008209 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] 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]
Contents
Description
The defect in Milroy's disease is present from birth and symptoms are usually first experienced in childhood. The most common problem is one-sided leg swelling, unilateral edema, which is progressive and can affect both legs. Impaired intestinal lymphatics can cause steatorrhea due to impaired transport of chylomicrons. Defective lymphocyte circulation can cause lymphopenia and impaired cell-mediated immunity.
This disease is more common in women and an association with the gene FLT4 has been described.[6]
See also
External links
References
- ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. pp. 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.
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- ^ synd/1326 at Who Named It?
- ^ 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.
Congenital malformations and deformations of integument / skin disease (Q80–Q82, 757.0–757.3) Genodermatosis Congenital ichthyosis/
erythrokeratodermiaADARUngroupedIchthyosis bullosa of Siemens · Ichthyosis follicularis · Ichthyosis prematurity syndrome · Ichthyosis–sclerosing cholangitis syndrome · Nonbullous congenital ichthyosiform erythroderma · Ichthyosis linearis circumflexa · Ichthyosis hystrixEB
and relatedJEB (JEB-H, Mitis, Generalized atrophic, JEB-PA)related: Costello syndrome · Kindler syndrome · Laryngoonychocutaneous syndrome · Skin fragility syndrome ·Naegeli syndrome/Dermatopathia pigmentosa reticularis · Hay–Wells syndrome · Hypohidrotic ectodermal dysplasia · Focal dermal hypoplasia · Ellis–van Creveld syndrome · Rapp–Hodgkin syndrome/Hay–Wells syndromeEhlers–Danlos syndrome · Cutis laxa (Gerodermia osteodysplastica) · Popliteal pterygium syndrome · Pseudoxanthoma elasticum · Van Der Woude syndromeHyperkeratosis/
keratinopathydiffuse: Diffuse epidermolytic palmoplantar keratoderma • Diffuse nonepidermolytic palmoplantar keratoderma • Palmoplantar keratoderma of Sybert • Mal de Meleda •syndromic (connexin (Bart–Pumphrey syndrome • Clouston's hidrotic ectodermal dysplasia • Vohwinkel syndrome) • Corneodermatoosseous syndrome • plakoglobin (Naxos syndrome) • Scleroatrophic syndrome of Huriez • Olmsted syndrome • Cathepsin C (Papillon–Lefèvre syndrome • Haim–Munk syndrome) • Camisa diseasefocal: Focal palmoplantar keratoderma with oral mucosal hyperkeratosis • Focal palmoplantar and gingival keratosis • Howel–Evans syndrome • Pachyonychia congenita (Pachyonychia congenita type I • Pachyonychia congenita type II) • Striate palmoplantar keratoderma • Tyrosinemia type II)punctate: Acrokeratoelastoidosis of Costa • Focal acral hyperkeratosis • Keratosis punctata palmaris et plantaris • Keratosis punctata of the palmar creases • Schöpf–Schulz–Passarge syndrome • Porokeratosis plantaris discreta • Spiny keratodermaungrouped: Palmoplantar keratoderma and spastic paraplegia • desmoplakin (Carvajal syndrome) • connexin (Erythrokeratodermia variabilis • HID/KID)OtherMeleda disease · Keratosis pilaris · ATP2A2 (Darier's disease) · Dyskeratosis congenita · Lelis syndromeDyskeratosis congenita · Keratolytic winter erythema · Keratosis follicularis spinulosa decalvans · Keratosis linearis with ichthyosis congenital and sclerosing keratoderma syndrome · Keratosis pilaris atrophicans faciei · Keratosis pilarisOthercadherin (EEM syndrome) · immune system (Hereditary lymphedema, Mastocytosis/Urticaria pigmentosa) · Hailey–Hailey
see also Template:Congenital malformations and deformations of skin appendages, Template:Phakomatoses, Template:Pigmentation disorders, Template:DNA replication and repair-deficiency disorderDevelopmental
anomaliesMidlineOther/ungroupedAplasia cutis congenita · Amniotic band syndrome · Branchial cyst · Cavernous venous malformation
Accessory nail of the fifth toe · Bronchogenic cyst · Congenital cartilaginous rest of the neck · Congenital hypertrophy of the lateral fold of the hallux · Congenital lip pit · Congenital malformations of the dermatoglyphs · Congenital preauricular fistula · Congenital smooth muscle hamartoma · Cystic lymphatic malformation · Median raphe cyst · Melanotic neuroectodermal tumor of infancy · Mongolian spot · Nasolacrimal duct cyst · Omphalomesenteric duct cyst · Poland anomaly · Rapidly involuting congenital hemangioma · Rosenthal–Kloepfer syndrome · Skin dimple · Superficial lymphatic malformation · Thyroglossal duct cyst · Verrucous vascular malformation · BirthmarkPathology: lymphatic disease: Lymphatic vessel disease (I88–I89, 457) Lymph vessels 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 diseaseCategories:- Ailments of unknown etiology
- Vascular-related cutaneous conditions
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