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Lymphangiomyomatosis

Lymphangioleiomyomatosis is a cystic lung disease that predominantly affects women. It is causes by proliferation of smooth muscle cells in lymphatic vessels of thorax and abdomen caused by mutation in one of the genes of the tuberous sclerosis complex (TSC1 or TSC2).Typical symptoms include dyspnea, pneumothorax and chylothorax. Sometimes other signs of tuberous sclerosis may exist, such as renal angiomyolipomas.

Systematic

Hereditary tumors
Capillary infantile hemangioma
Carcinoid tumor of lung
Gastric cancer
Hereditary brain tumors
Hereditary malign blood disorders
Hereditary renal tumors
Lymphangiomyomatosis
TSC1
TSC2
lymphangioleiomyomatosis_somatic
TSC2
Multiple self-healing palmoplantar carcinoma
Neurofibromatosis
Susceptibility to Kaposi sarcoma
lipoma

References:

1.

Castro M et al. (1995) Pulmonary tuberous sclerosis.

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2.

Smolarek TA et al. (1998) Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis.

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3.

Urban T et al. (1999) Pulmonary lymphangioleiomyomatosis. A study of 69 patients. Groupe d'Etudes et de Recherche sur les Maladies "Orphelines" Pulmonaires (GERM"O"P).

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4.

Astrinidis A et al. (2000) Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis.

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5.

Carsillo T et al. (2000) Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis.

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6.

Sato T et al. (2002) Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis.

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7.

Karbowniczek M et al. (2003) Recurrent lymphangiomyomatosis after transplantation: genetic analyses reveal a metastatic mechanism.

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8.

Taylor JR et al. (1990) Lymphangioleiomyomatosis. Clinical course in 32 patients.

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9.

Torres VE et al. (1995) Extrapulmonary lymphangioleiomyomatosis and lymphangiomatous cysts in tuberous sclerosis complex.

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10.

Johnson SF et al. (1993) Lymphangioleiomyomatosis.

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11.

Boehler A et al. (1996) Lung transplantation for lymphangioleiomyomatosis.

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Update: Aug. 14, 2020
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