Rhabdomyomas Clinical Presentation

  • Author: Karl J D'Silva; Chief Editor: Mary C Mancini, MD, PhD   more...
 
Updated: Aug 11, 2011
 

History

The presenting history depends in part on the age and sex of the patient.

  • Patients with adult rhabdomyoma give a history of having a mass in the region of the neck. They might experience some hoarseness, difficulty breathing, difficulty swallowing, or a combination.
  • Patients with fetal rhabdomyoma may have a history of subcutaneous head and neck masses.
  • Patients with genital rhabdomyoma are young or middle-aged women who might present with a complaint of dyspareunia.
  • Patients with cardiac rhabdomyoma may present with a history of shortness of breath, sometimes associated with signs and symptoms suggestive of cerebral palsy (suggesting the possibility of associated tuberous sclerosis).
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Physical

  • The physical examination of a patient with adult rhabdomyoma probably reveals the presence of a round or polypoid mass in the region of the neck.
  • Examination of the patient with fetal rhabdomyoma reveals subcutaneous masses in the head and neck regions.
  • Examination of women with genital rhabdomyoma reveals vaginal masses.
  • Patients with cardiac rhabdomyomas may present with heart murmurs. If tuberous sclerosis is associated, the patient displays cerebral palsy–type signs. Renal functions may be altered.
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Causes

Rhabdomyoma probably represents a genetic variant of striated muscle development. Drugs or environmental factors have not been identified as causes of this neoplasm.

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Contributor Information and Disclosures
Author

Karl J D'Silva  MD, Assistant Clinical Professor of Medicine, Department of Hematology/Oncology, Lahey Clinic, Sophia Gordon Cancer Center

Karl J D'Silva is a member of the following medical societies: Massachusetts Medical Society

Disclosure: Nothing to disclose.

Coauthor(s)

Vijay R Karia, MD  Fellow, Department of Rheumatology, Louisiana State University

Vijay R Karia, MD is a member of the following medical societies: American College of Physicians

Disclosure: Nothing to disclose.

Richard V Worrell, MD  Vice Chairman Emeritus, Professor Emeritus, Department of Orthopedics, University of New Mexico School of Medicine

Richard V Worrell, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Orthopaedic Surgeons, American College of Surgeons, American Orthopaedic Association, American Society for Clinical Pathology, American Trauma Society, and Royal Society of Medicine

Disclosure: Nothing to disclose.

Madan L Arora, MD  Assistant Professor of Medicine, Michigan State University College of Human Medicine; Consulting Staff, Division of Hematology/Oncology, Great Lakes Cancer Institute, McLaren Regional Medical Center

Madan L Arora, MD is a member of the following medical societies: Michigan State Medical Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Clarence Sarkodee-Adoo, MD  Consulting Staff, Department of Bone Marrow Transplantation, City of Hope Samaritan BMT Program

Disclosure: Takeda Millenium Honoraria Speaking and teaching

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Benjamin Movsas, MD  Vice-Chairman, Department of Radiation Oncology, Fox Chase Cancer Center

Benjamin Movsas, MD is a member of the following medical societies: American College of Radiology, American Radium Society, and American Society for Therapeutic Radiology and Oncology

Disclosure: Nothing to disclose.

J Stuart Wolf Jr, MD, FACS  The David A Bloom Professor of Urology, Director, Division of Endourology and Stone Disease, Department of Urology, University of Michigan Medical School

J Stuart Wolf Jr, MD, FACS is a member of the following medical societies: American College of Surgeons, American Urological Association, Catholic Medical Association, Endourological Society, Society for Urology and Engineering, Society of Laparoendoscopic Surgeons, Society of University Urologists, and Society of Urologic Oncology

Disclosure: Nothing to disclose.

Chief Editor

Mary C Mancini, MD, PhD  Professor and Chief of Cardiothoracic Surgery, Department of Surgery, Louisiana State University School of Medicine in Shreveport

Mary C Mancini, MD, PhD is a member of the following medical societies: American Association for Thoracic Surgery, American College of Surgeons, American Surgical Association, Phi Beta Kappa, Society of Thoracic Surgeons, and Southern Surgical Association

Disclosure: Nothing to disclose.

References

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  4. Kelekci S, Yazicioglu HF, Yilmaz B, Aygün M, Omeroglu RE. Cardiac rhabdomyoma with tuberous sclerosis: a case report. J Reprod Med. Jul 2005;50(7):550-2. [Medline].

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  18. 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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Histopathology of adult rhabdomyoma. Microscopically, the adult rhabdomyoma contains deeply eosinophilic polygonal cells with peripherally placed nuclei. Cross-striations can be observed (X250).
Atrial rhabdomyoma as seen on cardiac CT scan in a patient with tuberous sclerosis.
Nonobstructive ventricular rhabdomyomas in a patient with tuberous sclerosis.
Contrast-enhanced cardiac-gated T1-weighted MRI shows an enhancing left ventricular mass. At autopsy, this mass was found to be a cardiac rhabdomyoma.
 
 
 
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