Rhabdomyoma

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Simrat Sarai, M.D. [2] Synonyms and keywords: Synonym 1; Synonym 2; Synonym 3

Historical Perspective

• [Disease name] was first discovered by [scientist name], a [nationality + occupation], in [year] during/following [event].
• In [year], [gene] mutations were first identified in the pathogenesis of [disease name].
• In [year], the first [discovery] was developed by [scientist] to treat/diagnose [disease name].

Classification

• Rhabdomyoma may be classified into two types:

• Neoplastic
• Hamartoma

• Neoplastic variety is further classified into three subtypes:

• Adult
• Fetal
• Genital

• Hamartomas are further classified into two subtypes:

• Cardiac rhabdomyoma
• Rhabdomyomatous mesenchymal hamartomas of the skin

Staging

The staging of rhabdomyomas is based on the grade (G), site (T), and metastasis (M), as follows: G0 - Benign T0 - Intracapsular T1 - Extracapsular, intracompartmental M0 - None

Stage	Severity	Description
Benign Stage 1	Latent G0T0M0	Remains static or heals spontaneously
Benign Stage 2	Active G0T0M0	Progressive growth but limited by natural barriers
Benign Stage 3	Aggressive G0T1M0	Progressive growth not limited by natural barriers

Pathophysiology

• The pathogenesis of [disease name] is characterized by [feature1], [feature2], and [feature3].
• The [gene name] gene/Mutation in [gene name] has been associated with the development of [disease name], involving the [molecular pathway] pathway.
• On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
• On microscopic histopathological analysis, well-differentiated large cells, which are deeply eosinophilic polygonal with small, peripherally placed nuclei and occasional intracellular vacuoles, which resemble striated muscle cells, are characteristic findings of adult rhabdomyoma.
• On microscopic histopathological analysis, spindle-shaped cells with indistinct cytoplasm and muscle fibres, which resemble striated muscle tissue seen in intrauterine development at 7-12 weeks, are characteristic findings of fetal rhabdomyoma.
• On microscopic histopathological analysis, mixture of fibroblasts cells with clusters of mature cells containing distinct cross-striations and a matrix containing varying amounts of collagen and mucoid material, are characteristic findings of genital rhabdomyoma.
• On microscopic histopathological analysis, cells that closely resemble embryonic cardiac muscle cells, are characteristic findings of cardiac rhabdomyoma.
• On microscopic histopathological analysis, lesions contain poorly oriented or perpendicular bundles of well-differentiated skeletal muscle with islands of fat, fibrous tissue, and occasionally proliferating nerves, are characteristic findings of rhabdomyomatous mesenchymal hamartoma of the skin.

Causes

• [Disease name] may be caused by either [cause1], [cause2], or [cause3].
• [Disease name] is caused by a mutation in the [gene1], [gene2], or [gene3] gene[s].
• There are no established causes for [disease name].

Differentiating rhabdomyoma from other Diseases

• Rhabdomyomas must be differentiated from other diseases, such as: :*Hibernoma

• Reticulohistiocytoma
• Tuberous sclerosis
• Granular cell tumors

Epidemiology and Demographics

• The prevalence of [disease name] is approximately [number or range] per 100,000 individuals worldwide.
• In [year], the incidence of [disease name] was estimated to be [number or range] cases per 100,000 individuals in [location].

Age

• Adult rhabdomyoma is more commonly observed among patients aged greater than 40 years old.
• Fetal rhabdomyoma is more commonly observed among patients aged between birth and 3 years.
• Cardiac rhabdomyoma is more commonly observed among patients in the pediatric age group.
• Genital rhabdomyoma is more commonly observed among patients in the young and middle-aged women.
• Rhabdomyomatous mesenchymal hamartomas of the skin is more commonly observed among newborns and infants.

Gender

• Cardiac rhabdomyoma affects men and women equally.
• Rhabdomyomatous mesenchymal hamartoma of skin is observed in male and female newborns and infants equally.
• Males are more commonly affected with adult rhabdomyoma than females.
• Males are more commonly affected with fetal rhabdomyoma than females.
• Females are more commonly affected with genital rhabdomyoma than males

Race

• There is no racial predilection for rhabdomyomas.

Risk Factors

• Common risk factors in the development of [disease name] are [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].

Natural History, Complications and Prognosis

• The majority of patients with [disease name] remain asymptomatic for [duration/years].
• Early clinical features include [manifestation 1], [manifestation 2], and [manifestation 3].
• If left untreated, [#%] of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
• Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
• Prognosis is generally [excellent/good/poor], and the [1/5/10¬year mortality/survival rate] of patients with [disease name] is approximately [#%].

Diagnosis

Diagnostic Criteria

• The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met:

• [criterion 1]
• [criterion 2]
• [criterion 3]
• [criterion 4]

Symptoms

• [Disease name] is usually asymptomatic.
• Symptoms of adult rhabdomyoma may include the following:

• Hoarseness
• Difficulty breathing
• Difficulty swallowing

• Symptoms of genital rhabdomyoma may include the following:

• Dyspareunia

• Symptoms of cardiac rhabdomyoma may include the following:

• Shortness of breath

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 rhabdomyomas may present with heart murmurs. If tuberous sclerosis is associated, the patient displays cerebral palsy–type signs. Renal functions may be altered.

Laboratory Findings

• There are no specific laboratory findings associated with [disease name].

• An [positive/negative] [test name] is diagnostic of [disease name].
• An [elevated/reduced] concentration of [serum/blood/urinary/CSF/other] [lab test] is diagnostic of [disease name].
• Other laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].

Imaging Findings

• There are no [imaging study] findings associated with [disease name].
• [Imaging study 1] is the imaging modality of choice for [disease name].
• On [imaging study 1], [disease name] is characterized by [finding 1], [finding 2], and [finding 3].
• [Imaging study 2] may demonstrate [finding 1], [finding 2], and [finding 3].

Other Diagnostic Studies

• [Disease name] may also be diagnosed using [diagnostic study name].
• Findings on [diagnostic study name] include [finding 1], [finding 2], and [finding 3].

Treatment

Medical Therapy

• There is no treatment for [disease name]; the mainstay of therapy is supportive care.
• The mainstay of therapy for [disease name] is [medical therapy 1] and [medical therapy 2].
• [Medical therapy 1] acts by [mechanism of action1].
• Response to [medical therapy 1] can be monitored with [test/physical finding/imaging] every [frequency/duration].

Surgery

• Surgery is the mainstay of therapy for [disease name].
• [Surgical procedure] in conjunction with [chemotherapy/radiation] is the most common approach to the treatment of [disease name].
• [Surgical procedure] can only be performed for patients with [disease stage] [disease name].

Prevention

• There are no primary preventive measures available for [disease name].
• Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].

• Once diagnosed and successfully treated, patients with [disease name] are followed-up every [duration]. Follow-up testing includes [test 1], [test 2], and [test 3].