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Familial multiple lipomatosis is usually diagnosed through a physical exam via palpation, medical history and imaging studies such as ultrasound, CT scan, or magnetic resonance imaging . A CT scan is an imaging method that uses x-rays to create images of cross sections of the body, while an MRI uses powerful magnets and radio waves to create ...
Other entities which are accompanied by multiple lipomas include Proteus syndrome, Cowden syndrome and related disorders due to PTEN gene mutations, benign symmetric lipomatosis (Madelung disease), Dercum's Disease, familial lipodystrophy, hibernomas, epidural steroid injections with epidural lipomatosis, [6] and familial angiolipomatosis.
The tendency to develop a lipoma is not necessarily hereditary, although hereditary conditions such as familial multiple lipomatosis might include lipoma development. [ 15 ] [ 16 ] Genetic studies in mice have shown a correlation between the HMG I-C gene (previously identified as a gene related to obesity) and lipoma development.
Familial adenomatous polyposis is a cancer syndrome in which there are hundreds to thousands of benign adenomas in the colon.. A hereditary cancer syndrome (familial/family cancer syndrome, inherited cancer syndrome, cancer predisposition syndrome, cancer syndrome, etc.) is a genetic disorder in which inherited genetic mutations in one or more genes predispose the affected individuals to the ...
The tendency to develop a lipoma is not necessarily hereditary, although it is in a syndrome like familial multiple lipomatosis (where more than one lipoma develops over time.)[11] Hereditary lipomatosis is an autosomal dominant disorder and is a rare condition.[12]
Both the familial type and Fish-eye disease are autosomal recessive disorders caused by mutations of the LCAT gene located on chromosome 16q22.1, which is the long (q) arm of chromosome 16 a position 22.1. [7] Both diseases are very rare with ~70 reported cases of familial LCAT deficiency [9] and ~30 cases of fish-eye disease. [10]
Benign symmetric lipomatosis, also known as Madelung's disease, is an adult-onset skin condition characterized by extensive symmetric fat deposits in the head, neck, and shoulder girdle area. [1]
Benign lipoblastomatosis is a tumor consisting of fetal-embryonal adipocytes, frequently confused with a liposarcoma, affecting exclusively infants and young children, with approximately 90% of cases occurring before 3 years of age.