Reed
Reed Syndrome
Reed Syndrome (pronounced: /ri:d sɪnˈdroʊm/), also known as Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC), is a rare genetic disorder characterized by the development of benign smooth muscle tumors (leiomyomas) in the skin and uterus, and/or kidney cancer.
Etymology
The syndrome is named after the American dermatologist, Richard W. Reed, who first described the condition in 1973.
Symptoms
The most common symptoms of Reed Syndrome include:
- Cutaneous leiomyomas: These are benign smooth muscle tumors that develop in the skin. They often appear as small, firm nodules and can cause pain or discomfort.
- Uterine leiomyomas (fibroids): These are noncancerous growths in the uterus that can cause heavy menstrual bleeding, pelvic pain, and reproductive problems.
- Renal cell carcinoma: This is a type of kidney cancer that can occur in individuals with Reed Syndrome. It often develops at a younger age than typical kidney cancers.
Genetics
Reed Syndrome 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 energy-producing process in cells. Mutations in the FH gene disrupt the function of this enzyme, leading to the development of tumors and cancer.
Diagnosis
Diagnosis of Reed Syndrome is based on clinical evaluation, detailed patient history, and specialized genetic testing to identify mutations in the FH gene.
Treatment
Treatment for Reed Syndrome is symptomatic and supportive. It may include surgical removal of tumors, medication to manage pain, and regular monitoring for the development of kidney cancer.
Related Terms
External links
- Medical encyclopedia article on Reed
- Wikipedia's article - Reed
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