Updated: Dec 29, 2008
Rhabdomyoma is a lesion of striated muscle. The 2 types of rhabdomyoma are neoplastic and hamartoma. The neoplastic variety is subclassified into adult, fetal, and genital types. Hamartomas are divided into cardiac rhabdomyoma and rhabdomyomatous mesenchymal hamartomas of the skin.
Rhabdomyoma is an exceedingly rare tumor. Some investigators believe that mature striated muscle is unlikely to develop tumorous tissue. Therefore, they believe that rhabdomyoma may arise from fetal rests.
Rhabdomyoma is diagnosed most often in men aged 25-40 years. However, the so-called fetal rhabdomyoma chiefly affects boys between birth and age 3 years.
Most rhabdomyomas involve the head and neck regions.1 The cardiac rhabdomyoma, which is believed to be a hamartoma, usually is diagnosed in the pediatric age group. However, hamartomas are benign tumorlike growth made up of normal mature cells in abnormal number or distribution. While malignant tumors contain poorly differentiated cells, hamartomas consist of distinct cell types retaining normal functions. Because their growth is limited, hamartomas are not true tumors.
The adult rhabdomyoma is a rare tumor. Very few cases have been reported in the literature. This tumor usually presents as a round or polypoid mass in the region of the neck. The head and neck area harbors 90% of adult rhabdomyomas and should be considered in a differential diagnosis in this region.2 Studies in immunohistochemistry confirm that the tumors are almost totally matured neoplasms of clonal origin. The mass is usually asymptomatic. However, the mass may compress or displace the tongue, or it may cause partial obstruction of the pharynx. Consequently, the patient may experience some hoarseness, difficulty breathing, and difficulty swallowing.
The histopathology of adult rhabdomyoma is characterized by the presence of well-differentiated large cells that resemble striated muscle cells. Cross-striation has been demonstrated by phosphotungstic acid hematoxylin (PTAH), muscle specific actin, desmin, and myoglobin while dystrophin is shown to be expressed in the cell membranes. The cells are deeply eosinophilic polygonal cells with small peripherally placed nuclei and occasional intracellular vacuoles. Adult rhabdomyoma usually is localized to the oropharynx, the larynx, and the muscles of the neck.
Fetal rhabdomyoma occurs most often in the subcutaneous tissues of the head and neck in children between birth and age 3 years. The histopathology of fetal rhabdomyoma reveals the presence of a mixture of spindle-shaped cells with indistinct cytoplasm and muscle fibers, which resemble striated muscle tissue observed in intrauterine development at 7-12 weeks. The fetal rhabdomyoma is usually found in the subcutaneous tissues of the head and neck.
Genital rhabdomyoma most often involves the vagina or vulva of young or middle-aged women.3 Most patients are asymptomatic. However, some patients have dyspareunia. The histopathology of genital rhabdomyoma reveals a mixture of fibroblastlike cells with clusters of mature cells containing distinct cross-striations and a matrix containing varying amounts of collagen and mucoid material. The genital rhabdomyoma usually presents as a polypoid or cystlike mass involving the vulva or vagina.
Cardiac rhabdomyoma is a hamartomatous lesion that occurs most often in the pediatric age group.4 Cardiac rhabdomyomas typically develop in utero and are often detected on prenatal ultrasound. It usually involves the myocardium of both ventricles and the interventricular septum. Cardiac rhabdomyoma is considered a hamartomatous proliferation frequently associated with tuberous sclerosis of the brain, sebaceous adenomas, and various hamartomatous lesions of the kidney and other organs. The association of tuberous sclerosis and cardiac rhabdomyoma is important and has usually been explained by strong clinical association. Molecular evidence of this association have now been identified as the TSC2 gene missense mutation (E36; 4672 G>A, 1558 E>K TSC2).5
Rhabdomyomatous mesenchymal hamartoma is usually diagnosed in male and female newborns and infants. The histopathology of rhabdomyomatous mesenchymal hamartoma of the skin reveals that the lesions are located in the subcutis and contain poorly oriented or perpendicular bundles of well-differentiated skeletal muscle with islands of fat, fibrous tissue, and occasionally proliferating nerves.6
Malignant transformation of rhabdomyomas are very rare though there are few case report in literature.
Rhabdomyoma is an extremely rare tumor compared to other soft tissue tumors. Specifically, in the category of benign primary tumors of the heart, rhabdomyoma has a relative incidence of 5.8%.
Rhabdomyoma is rare. Exact data regarding its incidence within populations have not been cited. In the world literature, 14 cases of multifocal adult head and neck rhabdomyoma are reported.7
Rhabdomyoma has been identified in all racial groups. No predilection for any particular racial group exists.
Adult rhabdomyoma has been diagnosed mostly in men. Some reports exist of cases in women. Fetal rhabdomyoma affects boys. Genital rhabdomyoma affects young and middle-aged women. Cardiac rhabdomyoma is observed in men and women. Rhabdomyomatous mesenchymal hamartoma of skin is observed in male and female newborns and infants.
Adult rhabdomyoma occurs in older adults. These patients are usually older than 40 years. Fetal rhabdomyoma occurs between birth and age 3 years. Genital rhabdomyoma is observed in young and middle-aged women. Cardiac rhabdomyomas occur chiefly, but not exclusively, in the pediatric age group. Rhabdomyomatous mesenchymal hamartoma of the skin is observed in newborns and infants.
The presenting history depends in part on the age and sex of the patient.
Rhabdomyoma probably represents a genetic variant of striated muscle development. Drugs or environmental factors have not been identified as causes of this neoplasm.
Granular Cell Tumors
Hibernoma
Reticulohistiocytoma
Tuberous sclerosis
The histopathologic findings from patients with adult rhabdomyoma are characterized by the presence of well-differentiated large cells, which resemble striated muscle cells. The cells are deeply eosinophilic polygonal cells with small, peripherally placed nuclei and occasional intracellular vacuoles.
Fetal rhabdomyoma is identifiable by the presence of a mixture of spindle-shaped cells with indistinct cytoplasm and muscle fibers, which resemble striated muscle tissue seen in intrauterine development at 7-12 weeks.
Genital rhabdomyoma is made up of a mixture of fibroblastlike cells with clusters of mature cells containing distinct cross-striations and a matrix containing varying amounts of collagen and mucoid material.
Cardiac rhabdomyoma consists of cells that closely resemble embryonic cardiac muscle cells.
The histopathology of rhabdomyomatous mesenchymal hamartoma of the skin reveals that the lesions contain poorly oriented or perpendicular bundles of well-differentiated skeletal muscle with islands of fat, fibrous tissue, and occasionally proliferating nerves.
Patients with adult rhabdomyoma may experience progressive difficulties in breathing and swallowing. In such instances, nasal oxygen may help patients with breathing difficulties. In circumstances in which swallowing is extremely difficult, supplemental intravenous fluids may be administered until surgery is performed. Patients with cardiac rhabdomyomas should be under the care of a cardiologist.
Patients with adult rhabdomyoma and problems related to swallowing may need to be placed on a liquid diet.
Patients with adult rhabdomyoma who are experiencing breathing difficulties should restrict their activities until appropriate treatment can be undertaken. Patients with cardiac rhabdomyoma also must restrict their activities.
The goals of pharmacotherapy are to reduce morbidity and to prevent complications.
Generally, the usual pain medications (eg, aspirin with codeine, acetaminophen with codeine) may be used to relieve pain. Many patients with rhabdomyomas are asymptomatic; these patients rarely require strong pain medication.
Provides adequate pain relief. However, discontinue aspirin several days before any surgical treatment is undertaken to prevent excessive bleeding.
1-2 tab PO q4h prn
Not established
Aspirin effects may decrease with antacids and urinary alkalinizers; corticosteroids decrease salicylate serum levels; additive hypoprothrombinemic effects and increased bleeding time may occur with coadministration of anticoagulants and aspirin; aspirin may antagonize uricosuric effects of probenecid and increase toxicity of phenytoin and valproic acid; aspirin dosages > 2 g/d may potentiate glucose-lowering effect of sulfonylurea drugs
Toxicity of codeine increases with concurrent administration of tricyclic antidepressants, MAOIs, neuromuscular blockers, CNS depressants, phenothiazines, and narcotic analgesics
Documented hypersensitivity; liver damage; hypoprothrombinemia; vitamin K deficiency; bleeding disorders; asthma; because of association of aspirin with Reye syndrome, do not use in children ( <16 y) with flu
D - Fetal risk shown in humans; use only if benefits outweigh risk to fetus
Patients scheduled for surgery should discontinue use of aspirin several days before surgery is performed (aspirin can cause bleeding problems); aspirin may cause transient decrease in renal function and aggravate chronic kidney disease; avoid use in patients with severe anemia, history of blood coagulation defects, or those who are taking anticoagulants
Codeine may depress hypoxic ventilatory rate and respiratory drive during sleep
Indicated for the treatment of mild to moderate pain. Acetaminophen can be used safely before surgery.
1-2 tab PO q4h prn
Not established
Toxicity of codeine increases with CNS depressants, tricyclic antidepressants, MAOIs, neuromuscular blockers, CNS depressants, phenothiazines, and narcotic analgesics
Rifampin can reduce analgesic effects of acetaminophen; coadministration with barbiturates, carbamazepine, hydantoins, and isoniazid may increase hepatotoxicity of acetaminophen
Documented hypersensitivity
C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus
Caution in patients who are dependent on opiates because this substitution may result in acute opiate-withdrawal symptoms; caution in patients with severe renal or hepatic dysfunction
Hepatotoxicity with acetaminophen possible in those with long-term alcoholism following various dose levels; severe or recurrent pain or high or continued fever may indicate a serious illness; acetaminophen is contained in many OTC products, and combined use with these products may result in cumulative acetaminophen doses and exceed recommended maximum dose
DOC for pain in patients with documented hypersensitivity to aspirin or NSAIDs, with upper GI disease, or who are taking oral anticoagulants.
325-650 mg PO q4-6h or 1000 mg PO tid/qid; not to exceed 4 g/d
<12 years: 10-15 mg/kg/dose PO q4-6h prn; not to exceed 2.6 g/d
>12 years: 325-650 mg PO q4h; not to exceed 4 g/d
Rifampin can reduce analgesic effects of acetaminophen; coadministration with barbiturates, carbamazepine, hydantoins, and isoniazid may increase hepatotoxicity
Documented hypersensitivity; known G-6-PD deficiency
B - Fetal risk not confirmed in studies in humans but has been shown in some studies in animals
Hepatotoxicity possible in long-term alcoholics following various dose levels; severe or recurrent pain or high or continued fever may indicate a serious illness; acetaminophen is contained in many OTC products, and combined use with these products may result in cumulative acetaminophen doses exceeding recommended maximum dose
Drug combination indicated for the relief of moderate to severe pain.
1-2 tab or cap PO q4-6h prn pain
0.05-0.15 mg/kg/dose oxycodone PO, not to exceed 5 mg/dose of oxycodone, PO q4-6h prn
Phenothiazines may decrease analgesic effects of this medication; toxicity increases with coadministration of either CNS depressants or tricyclic antidepressants
Documented hypersensitivity
C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus
Duration of action may increase in elderly persons; be aware of total daily dose of acetaminophen patient is receiving; do not exceed 4 g/d of acetaminophen, higher doses may cause liver toxicity
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Motara F, Cilliers AM, Papeta L, Adams PE, Ntsinjana H, Vanderdonck K, et al. A giant rhabdomyoma in a neonate with tuberous sclerosis. Cardiovasc J Afr. Sep-Oct 2008;19(5 Suppl):S24-5. [Medline].
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rhabdomyoma, benign tumor of striated muscle, neoplastic, hamartoma, cardiac rhabdomyoma, rhabdomyomatous mesenchymal hamartomas of the skin, muscle tumor
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