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Lymphatic malformations and other lymphatic disease

35 articles

Acquired progressive lymphangioma

Acquired progressive lymphangioma, also known as benign lymphangioendothelioma, is a rare, non-cancerous, slowly growing tumor of lymphatic vessels that appears as red or bruise-like skin plaques.

Angiosarcoma

Angiosarcoma is a rare malignant tumor of blood and lymph vessel endothelial cells, about 1-2% of sarcomas, most common over age 70, often skin, breast, liver, or spleen; risk factors include lymphedema (Stewart-Treves syndrome) and prior radiation.

Angiosarcoma of skin

Cutaneous angiosarcoma is a rare, aggressive vascular sarcoma of the skin, mainly of the elderly head and scalp, or secondary to radiation or lymphedema; 5-year survival is roughly 30% and treatment is surgery plus radiotherapy.

Benign neoplasm of tonsil

Benign neoplasm of tonsil (ICD-11 2E90.4, ICD-10 D10.4): rare non-malignant tonsillar tumors, most commonly squamous papilloma; diagnosed histologically, treated by surgical excision.

Castleman disease

Castleman disease (angiofollicular lymph node hyperplasia) is a rare lymphoproliferative disorder with unicentric and multicentric forms, driven partly by IL-6 and HHV-8, treated by surgery or siltuximab.

Central conducting lymphatic anomaly

Central conducting lymphatic anomaly (CCLA), also known as channel-type lymphatic malformation, is a rare disorder in which the central lymphatic system malfunctions, causing lymph to reflux into the lungs and abdomen.

Cervical lymphadenopathy

Cervical lymphadenopathy: abnormal enlargement of neck lymph nodes, usually >1 cm. Common in children (45-57% palpable), mostly viral/reactive; age guides cause, with cancer suspected over 60; ultrasound first-line in children, CT/MRI in adults.

Chylothorax

Chylothorax: chyle accumulation in the pleural space, usually from thoracic duct injury or obstruction. Also chylous pleural effusion. Diagnosed by pleural triglyceride >110 mg/dL; caused mostly by surgery or lymphoma.

Chylous ascites

Chylous ascites: leakage of triglyceride-rich lymph (chyle) into the peritoneal cavity, milky fluid with triglyceride >200 mg/dL; caused by malignancy, cirrhosis, tuberculosis, or lymphatic injury; treated conservatively first.

Chylous effusion

Chylous effusion (chylothorax): accumulation of chyle in the pleural space, about 3% of pleural effusions. Diagnosed by pleural triglyceride >110 mg/dL; caused mainly by trauma, surgery, and malignancy, especially lymphoma.

Congenital chylothorax

Congenital chylothorax (CCT), also called congenital chylothorax of the newborn, is chyle accumulation in the fetal or neonatal pleural space from lymphatic duct malformation; the leading cause of neonatal pleural effusion, incidence about 1:5,800-1:24,000, treated stepwise with drainage, MCT diet, octreotide, and surgery.

Cutaneous lymphangiectasia

Cutaneous lymphangiectasia (acquired lymphangioma, lymphangiectasis) is dilation of superficial skin lymphatic vessels after obstruction or injury, causing frogspawn-like oozing vesicles, cellulitis risk, and treatments including CO2 laser, sclerotherapy, and excision.

Cystic hygroma

Cystic hygroma, also called cystic lymphangioma or macrocystic lymphatic malformation, is a benign congenital lymphatic malformation forming large fluid-filled cysts, usually in the neck, treated by surgery or sclerotherapy.

Enlarged lymph nodes

Enlarged lymph nodes (lymphadenopathy) are abnormally sized or altered lymph nodes, >1 cm for most nodes. Usually benign and infectious; malignancy causes 1.1% of primary care cases, 4% over age 40.

Epithelioid hemangioendothelioma

Epithelioid hemangioendothelioma (EHE) is an ultra-rare vascular sarcoma defined by WWTR1::CAMTA1 (>90%) or YAP1::TFE3 (~5-10%) gene fusions, treated mainly with surgery; no approved systemic therapy.

Generalised lymph node enlargement

Generalised lymph node enlargement (generalized lymphadenopathy) is enlarged lymph nodes in two or more noncontiguous body regions, ICD-11 MA01.1, usually signaling systemic infection, malignancy, or autoimmune disease.

Generalized lymphatic anomaly

Generalized lymphatic anomaly (GLA), formerly diffuse systemic lymphangiomatosis, is a rare non-inherited disorder of multifocal dilated lymphatic vessels in multiple organs, distinguished from Gorham-Stout disease by stable medullary bone lesions and treated with sirolimus.

Gorham-Stout disease

Gorham-Stout disease (GSD), or vanishing bone disease, is a rare complex lymphatic malformation causing progressive osteolysis via lymphatic proliferation in bone; roughly 400 cases documented, mostly children, treated with surgery, bisphosphonates, sirolimus, and radiotherapy.

Hereditary lymphedema

Hereditary (primary) lymphedema is a group of genetic disorders in which lymphatic vessels develop abnormally or function poorly, causing swelling, most often of the legs, from birth or later.

Isolated lymphatic malformation

Isolated lymphatic malformation (common cystic lymphatic malformation, ORPHA:458833) is a rare benign congenital malformation of lymphatic vessels causing cystic lesions, mostly in the head and neck, classified as macrocystic, microcystic, or mixed and treated with sclerotherapy, surgery, sirolimus, or alpelisib.

Kaposiform lymphangiomatosis

Kaposiform lymphangiomatosis (KLA), a rare complex lymphatic anomaly first described in 2014, features malformed lymphatic channels with spindled endothelial cells, thoracic effusions, bone and spleen involvement, NRAS Q61R mutations, and sirolimus treatment.

Kikuchi disease (菊池病)

Kikuchi disease, also called Kikuchi-Fujimoto disease, is a rare, self-limited lymph node inflammation causing tender neck swelling and fever, first described in Japan in 1972.

Lymphangiectasia

Lymphangiectasia, pathologic dilation of lymphatic vessels, primary (congenital) or secondary (obstructed). Intestinal form is Waldmann's disease: hypoalbuminemia, lymphopenia, edema; treated with fat-free diet and MCT.

Lymphangioleiomyomatosis

Lymphangioleiomyomatosis (LAM, lymphangiomyomatosis) is a rare cystic lung disease almost exclusively affecting women, caused by TSC1/TSC2 mutations, treated with sirolimus, and sometimes requiring lung transplantation.

Lymphangiomatosis

Lymphangiomatosis, now called generalized lymphatic anomaly (GLA) within complex lymphatic anomalies, is a rare congenital disorder of proliferating lymphatic vessels affecting bones, lungs, spleen, and other organs, treated with sirolimus.

Lymphocele

Lymphocele: a fibrous-walled, non-epithelialized collection of lymph caused by lymphatic injury, usually after pelvic, vascular, or transplant surgery; incidence 8–48%, treated by drainage, sclerotherapy, or marsupialization.

Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome

Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome (MLT), also called cutaneovisceral angiomatosis-thrombocytopenia syndrome, is a rare lymphatic disorder first described in 2004, with congenital skin and gastrointestinal vascular lesions that deplete platelets and bleed.

Papillary intralymphatic angioendothelioma

Papillary intralymphatic angioendothelioma (PILA, Dabska tumor), a rare low-grade lymphatic vascular tumor of skin and subcutis in children and young adults, first described 1969, treated by wide excision, rarely metastasizing.

Plastic bronchitis

Plastic bronchitis (PB), also called cast bronchitis or Hoffman bronchitis, is a rare disorder in which branching bronchial casts obstruct airways. Subtypes are lymphatic (post-Fontan) and eosinophilic; treatment includes lymphatic embolization.

Primary intestinal lymphangiectasia

Primary intestinal lymphangiectasia (Waldmann's disease, PIL) is a rare disorder of dilated intestinal lacteals causing protein-losing enteropathy, edema, and lymphopenia, treated mainly with a low-fat MCT diet.