Rhabdomyoma physical examination

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Overview

Rhabdomyoma is a benign tumor of striated muscle. Rhabdomyomas are rare and can be classified into cardiac type and extracardiac type.The most common primary benign pediatric tumor of the heart is cardiac rhabdomyoma which can be seen mainly in fetal life and children, second most common primary benign cardiac tumor in children is fibroma. Most tumors regress spontaneously, prognosis depends on the location of tumor and size. Cardiac rhabdomyoma is strongly associated with tuberous sclerosis. Cardiac rhabdomyoma is seen almost always in the pediatric age group and is associated with tuberous sclerosis, neurofibromatosis, and sebaceous adenomas. Extracardiac rhabdomyoma can be divided into three groups (adult, fetal, and genital types) with distinct clinical and morphological differences. The adult type is a slowly growing mass which typically involves the head and neck. Fetal type is seen in the head and neck region. The genital type is almost always found in the vulvovaginal region of older women. Treatment of adult type rhabdomyoma of head and neck depends upon the severity of clinical symptoms.

Physical Examination

  • Physical examination may be remarkable for:
  • The presence of a round or polypoid mass in the region of the neck in adult rhabdomyoma
  • Subcutaneous masses in the head and neck regions in fetal rhabdomyoma
  • Vaginal masses in genital rhabdomyoma
  • Cardiac rhabdomyoma may present with mitral or tricuspid regurgitation murmur.[1]

References

  1. Ono M, Boethig D, Akin E, Goerler H, Breymann T (March 2007). "Coexistent cardiac rhabdomyoma with mitral valve anomaly in patients with tuberous sclerosis: a case report". Thorac Cardiovasc Surg. 55 (2): 120–1. doi:10.1055/s-2006-924243. PMID 17377866.</ref <nowiki><nowiki>*</nowiki></nowiki>It can present with [[seizures]] or [[cerebral palsy]] if [[tuberous sclerosis]] is involved.<ref name="pmid21173003">Staley BA, Vail EA, Thiele EA (January 2011). "Tuberous sclerosis complex: diagnostic challenges, presenting symptoms, and commonly missed signs". Pediatrics. 127 (1): e117–25. doi:10.1542/peds.2010-0192. PMC 3010088. PMID 21173003.

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