Multiple cutaneous leiomyoma

Multiple Cutaneous Leiomyoma

Multiple cutaneous leiomyoma (pronunciation: mul-ti-ple cu-ta-ne-ous lei-o-my-o-ma) is a rare genetic disorder characterized by the growth of benign tumors in the smooth muscle cells that are part of the skin's hair follicles.

Etymology

The term "multiple cutaneous leiomyoma" is derived from several words. "Multiple" is from the Latin multiplus, meaning "many times as much". "Cutaneous" is from the Latin cutis, meaning "skin". "Leiomyoma" is a combination of the Greek words leios (smooth), mys (muscle), and -oma (tumor).

Symptoms

The most common symptom of multiple cutaneous leiomyoma is the presence of small, firm, skin-colored or brownish nodules on the skin. These nodules are often painful, especially when exposed to cold or touched. Other symptoms may include sweating and flushing.

Causes

Multiple cutaneous leiomyoma is caused by mutations in the FH gene. This gene provides instructions for making an enzyme called fumarate hydratase, which is involved in an important series of reactions known as the Krebs cycle. Mutations in the FH gene disrupt the function of fumarate hydratase, leading to the accumulation of certain molecules and the formation of tumors.

Diagnosis

Diagnosis of multiple cutaneous leiomyoma is typically based on the characteristic clinical features. Genetic testing can confirm the diagnosis by identifying a mutation in the FH gene.

Treatment

Treatment for multiple cutaneous leiomyoma primarily involves managing the symptoms. This may include pain management, surgical removal of the tumors, and genetic counseling.

Related Terms

• Leiomyoma
• Genetic disorder
• Tumor
• Smooth muscle
• Hair follicles
• Sweating
• Flushing
• FH gene
• Krebs cycle

External links

• Medical encyclopedia article on Multiple cutaneous leiomyoma
• Wikipedia's article - Multiple cutaneous leiomyoma

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