Lymphangioleiomyomatosis (LAM) is a rare lung disease, primarily affecting women. Abnormal proliferation of smooth muscle-like cells (LAM cells) within the lung is responsible for cystic destruction of the lung parenchyma and leads to chronic respiratory failure. Another characteristic feature of the disease is the development of fluid-filled lymphatic cystic structures (lymphangioleiomyomas) in the axial lymphatics and of angiomyolipomas in the kidneys. Its presentation is sporadic or associated with tuberous sclerosis complex, a dominant autosomal neurocutaneous syndrome. Both disorders have their origin in mutations of the tuberous sclerosis genes TSC1 and TSC2, which are involved in the regulation of cell signs critical for energy control and cell nutrition processes.
Cancer; Cardiovascular disease; Immune system disease
Human diseases [BR:
Human diseases in ICD-11 classification [BR:
12 Diseases of the respiratory system
Respiratory diseases principally affecting the lung interstitium
p53 signaling pathway
mTOR signaling pathway
Insulin signaling pathway
Taveira-Dasilva AM, Rabel A, Gochuico BR, Avila NA, Moss J
Prevalence of uterine leiomyomas in lymphangioleiomyomatosis.
Fertil Steril 96:711-714.e1 (2011)
(description, gene, drug)
Taille C, Borie R, Crestani B
Current management of lymphangioleiomyomatosis.
Curr Opin Pulm Med 17:374-8 (2011)
Ansotegui Barrera E, Mancheno Franch N, Vera-Sempere F, Padilla Alarcon J
Arch Bronconeumol 47:85-93 (2011)
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