Other Names for this Disease
- Cutaneous leiomyomata with uterine leiomyomata
- Leiomyoma, hereditary multiple, of skin
- Leiomyoma, multiple cutaneous
- Multiple cutaneous and uterine leiomyomata
Your QuestionA friend of mine was just told she has Reed syndrome. I have never heard of this condition, but am told it is very rare. I was wondering if you could let me know where I can find more information on this topic. I am wondering what treatments there are for this, and what the success rate is.
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In this disorder, growths on the skin (cutaneous leiomyomas) typically develop in the third decade of life. Most of these growths arise from the tiny muscles around the hair follicles that cause "goosebumps". They appear as bumps or nodules on the trunk, arms, legs, and occasionally on the face. Cutaneous leiomyomas may be the same color as the surrounding skin, or they may be darker. Some affected individuals have no cutaneous leiomyomas or only a few, but the growths tend to increase in size and number over time. Cutaneous leiomyomas are often more sensitive than the surrounding skin to cold or light touch, and may be painful.
Most women with Reed syndrome also develop uterine leiomyomas (fibroids) . While uterine fibroids are very common in the general population, women with Reed syndrome tend to have numerous large fibroids that appear earlier than in the general population.
Approximately 10 percent to 16 percent of people with Reed syndrome develop a type of kidney cancer called renal cell cancer. The signs and symptoms of renal cell cancer may include lower back pain, blood in the urine, or a mass in the kidney that can be felt upon physical examination. Some people with renal cell cancer have no symptoms until the disease is advanced. The average age at which people with Reed syndrome are diagnosed with kidney cancer is in their forties.
Reed syndrome is caused by mutations in the fumarate hydratase (FH) gene. The FH gene provides instructions for making an enzyme called fumarase (also known as fumarate hydratase). This enzyme participates in an important series of reactions known as the citric acid cycle or Krebs cycle, which allows cells to use oxygen and generate energy. Specifically, fumarase helps convert a molecule called fumarate to a molecule called malate.
People with Reed syndrome are born with one mutated copy of the FH gene in each cell. The second copy of the FH gene in certain cells may also acquire mutations as a result of environmental factors such as ultraviolet radiation from the sun or a mistake that occurs as DNA copies itself during cell division.
FH gene mutations may interfere with the enzyme's role in the citric acid cycle, resulting in a buildup of fumarate. Researchers believe that the excess fumarate may interfere with the regulation of oxygen levels in the cell. Chronic oxygen deficiency (hypoxia) in cells with two mutated copies of the FH gene may encourage tumor formation and result in the tendency to develop leiomyomas and renal cell cancer.
Surgical excision for a solitary painful lesion,
Treatment by cryoablation and/or lasers,
Uterine fibroids should be evaluated by a gynecologist. The uterine fibroids found in Reed syndrome are treated in the same manner as gonadotropin-releasing hormone agonists (GnRHa), antihormonal medications, and pain relievers) may be used: to treat initially for uterine fibroids, to decrease the size of fibroids in preparation for surgical removal, or to provide temporary relief from the symptoms of fibroids. When possible, myomectomy (the surgical removal of fibroids) to remove fibroids while preserving the uterus is the treatment of choice. Hysterectomy should be performed only when necessary.
Early detection of kidney tumor in Reed syndrome is important. Surgical excision of these malignancies appears to require earlier and more extensive surgery than other hereditary kidney cancers. Further studies may demonstrate that even small tumors are of a high grade upon pathologic review. Kidney tumors associated with Reed syndrome have an aggressive disease course. Therefore, these tumors must be managed with caution until more is known about the natural history. Because of the aggressive nature of renal cancers associated with Reed syndrome, total nephrectomy should be strongly considered in individuals with a detectable renal mass.
Individuals with Reed syndrome typically develop uterine fibroids with a higher prevalence than the general population, see onset at an earlier age, and experience more severe symptoms. A large porportion of these individuals undergo hysterectomy at a young age (at or before age 30) in an attempt to alleviate symptoms.
Approximately 10 percent to 16 percent of people with Reed syndrome develop renal cell cancer. Early detection of kidney tumors in Reed syndrome is important. Surgical excision of these malignancies appears to require earlier and more extensive surgery than other hereditary kidney cancers. Overall prognosis of the renal cell cancer depends onthe stage of the disease and the overall health of the individual. The survival rate is highest if the tumor is in the early stages and has not spread outside the kidney.
- Hereditary leiomyomatosis and renal cell cancer. Genetics Home Reference. April 2008; http://ghr.nlm.nih.gov/condition=hereditaryleiomyomatosisandrenalcellcancer. Accessed 6/30/2009.
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- Pithukpakorn M, Toro JR. Hereditary Leiomyomatosis and Renal Cell Cancer . GeneReviews. 2007; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hlrcc. Accessed 7/6/2009.
- Alam NA, Barclay E, Rowan AJ, Tyrer JP, Calonje E, Manek S, Kelsell D, Leigh I, Olpin S, Tomlinson IPM. Arch Dermatol. 2005; http://archderm.ama-assn.org/cgi/content/full/141/2/199. Accessed 7/6/2009.
- Hodge JC, Morton CC. Human Molecular Genetics. 2007; http://hmg.oxfordjournals.org/cgi/content/full/16/R1/R7. Accessed 7/6/2009.
- Dugdale DC. Renal cell carcinoma. MedlinePlus. 2009; http://www.nlm.nih.gov/medlineplus/ency/article/000516.htm. Accessed 7/6/2009.