Year: 2003
Type: article
Abstract: Tuberous sclerosis (TSC) is characterised by the occurrence of hamartomas in different organs. It is autosomal dominant with complete penetrance and variable expression. TSC is associated with epilepsy, learning difficulties, behavioural problems, and renal and dermatological pathology. Lymphangioleiomyomatosis (LAM) is principally a pulmonary condition characterised by smooth muscle ( leiomyo ) proliferation around lymphatics ( lymph ), blood vessels ( angio ), and alveolar airways. Cystic destruction of lung parenchyma results in the development of pneumothoraces. 50% of patients with LAM have renal angiomyolipomas which are …
Source: Thorax
Author: R A Badawi
Institution: King's College Hospital
Language: English
Subfield: Genetics (clinical)
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W2099078567