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Characteristics of tuberous sclerosis syndrome with pulmonary lymphangioleiomyomatosis

Published: 2024-11-21 Author: mysheen
Last Updated: 2024/11/21, Tuberous sclerosis syndrome with pulmonary lymphangioleiomyomatosis is a congenital disease. Among them, pulmonary lymphangioleiomyomatosis is a kind of tuberous sclerosis syndrome, and tuberous sclerosis and so on.

Tuberous sclerosis syndrome with pulmonary lymphangioleiomyomatosis is a congenital disease. Pulmonary lymphangioleiomyomatosis is a kind of tuberous sclerosis syndrome, and tuberous sclerosis is also called tuberous sclerosis syndrome (TSC). Tuberous sclerosis syndrome (TSC), also known as Bourneville disease, maternal plaque syndrome, tuberous brain sclerosis syndrome, is an autosomal dominant neuroskin syndrome.

Pulmonary lymphatic leiomyoma

TSC is a congenital autosomal dominant neurocutaneous syndrome, and there are also sporadic cases. The incidence group is mainly mental retardation, epilepsy, mental retardation and other neurological disorders, brain, skin, peripheral nerve, kidney and other organs involved, clinically characterized by facial sebaceous adenoma, the incidence is about 1 / 100000, there are few elderly people. Lymphangioleiomyomatosis (LAM) is the main pulmonary manifestation of TSC, and the probability of combination of Leiomyomatosis and Leiomyomatosis is low.

Children such as infants with congenital mental retardation are frequent patients with tuberous sclerosis syndrome (TSC). The incidence rate is 1 to 6000, the ratio of male to female is 2:1, and most of them have abnormal organ development in ectodermal tissue. There is also non-lymphangioleiomyomatosis, which almost all occurs in premenopausal women, 70% between the ages of 20 and 40, only 5% after the age of 50, and very few cases occur after menopause.

Tuberous sclerosis syndrome

Congenital tuberous sclerosis syndrome is also hereditary, with a familial ratio of about 1 to 3. From the gene mapping, TSC can be divided into four types: TSC1, TSC2, TSC3 and TSC4. TSC1 and TSC2 mutations cause abnormal function of hamartoma protein and tubercle protein respectively, which affect the regulation of cell differentiation, resulting in abnormal growth and differentiation of ectoderm, mesoderm and endoderm cells.

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