GMS syndrome

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GMS Syndrome

GMS Syndrome (pronounced: /ɡiː.ɛm.ɛs/), also known as Gingival Fibromatosis with Multiple Symmetrical Lipomatosis is a rare genetic disorder characterized by an overgrowth of the gums and the presence of multiple, symmetrical, non-cancerous fatty growths (lipomas) under the skin.

Etymology

The term GMS is an acronym derived from the primary characteristics of the syndrome: Gingival Fibromatosis, Multiple, Symmetrical Lipomatosis. The term 'fibromatosis' originates from the Latin word 'fibroma' meaning 'fibrous tissue tumor', and the Greek word 'osis' meaning 'condition'. 'Lipomatosis' is derived from the Greek words 'lipos' meaning 'fat', and 'oma' meaning 'tumor'.

Symptoms

The primary symptoms of GMS Syndrome include gingival fibromatosis and lipomatosis. Gingival fibromatosis is characterized by an overgrowth of the gums, which can cover the teeth completely in severe cases. Lipomatosis refers to the presence of multiple, symmetrical, non-cancerous fatty growths under the skin, primarily around the neck and shoulders.

Causes

GMS Syndrome is a genetic disorder, caused by mutations in the sonic hedgehog (SHH) gene. This gene plays a crucial role in the development of tissues and organs during embryonic growth.

Diagnosis

Diagnosis of GMS Syndrome is based on a clinical evaluation, detailed patient history, and a variety of specialized tests. These may include genetic testing to identify mutations in the SHH gene, and imaging studies such as MRI or CT scans to visualize the lipomas.

Treatment

Treatment for GMS Syndrome is symptomatic and supportive. This may include surgical removal of the lipomas and gingival overgrowth, as well as genetic counseling for affected individuals and their families.

Related Terms

External links

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