Dema-ala, Mayen Anne D.

DMD 3A

Rhabdomyoma
 BACKGROUND
• A benign tumor showing skeletal muscle cell
with varying degree of differentiation and
maturity.
• A rare neoplasm of the maxillofacial region.
• Usually found in the head and neck region.
CLINICAL FEATURES
• mass in the region of the neck
• they might experience some hoarseness
• difficulty breathing
• difficultyswallowing
AGE & SEX Predilection: 60yo, 75% male
ETIOLOGY: Colonal balanced translocation has
been found in chromosomes 15 and 17 in adult
rhabdomyoma tumors of head and neck
MAIN • Genital
Adult rhabdomyoma of the
TYPES: 2. Hamartoma
tongue in a child
1. Neoplastic • Cardiac rhabdomyoma
• Adult • Rhabdomyomatous
• Fetal mesenchymal
hamartomas of the skin
NEOPLASTIC ADULT  Localized to the oropharynx, the larynx, and
the muscles of the neck.
 Most common in men aged 25-40
 presence of well-differentiated large cells that
resemble striated muscle cells. The cells are
deeply eosinophilic polygonal cells with small
peripherally placed nuclei and occasional
intracellular vacuoles.
 Positive stains:
a. phosphotungstic acid hematoxylin
(PTAH),
b. muscle specific actin
c. Desmin
d. Myoglobin
e. Dystrophin
NEOPLASTIC FETAL
 usually found in the subcutaneous tissues of the head
and neck.
 occurs most often in children between birth and age 3
years.
 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.
HAMARTOMATOUS Cardiac Rhabdomyoma
• most often in the pediatric age group, developed
in utero and are often detected on prenatal
ultrasonography.
• involves the myocardium of both ventricles and
the interventricular septum.
• Molecular evidence of this association have now
been identified as the TSC2 gene missense
mutation
NEOPLASTIC GENITAL
 presents as a polypoid or cyst like mass involving the
vulva or vagina.
 most often involves the vagina or vulva of young or
middle-aged women.
 Most are asymptomatic, some have dyspareunia
 Presence of a mixture of fibroblast like cells with clusters
of mature cells containing distinct cross-striations and a
matrix containing varying amounts of collagen and
mucoid material.
HAMARTOMATOUS Rhabdomyomatous Mesenchymal
Hamartoma (of the skin)
• Usually diagnosed in male and female newborns
and infants.
• located in the subcutis
• contain poorly oriented or perpendicular bundles
of well-differentiated skeletal muscle with islands
of fat, fibrous tissue, and occasionally
proliferating nerves.
DIFFERENTIAL
DIAGNOSIS

RULE IN RULE OUT

Alveolar Soft Part Sarcoma Presence of crystals interpreted as a presence of well-developed Golgi
product similar to renin or complexes
aggregates of actin filaments
Paraganglioma Presence of large polygonal cells, mixture of ganglionic and
abundant granular cytoplasm, and sustentacular cells; no striations,
rich vasculature characteristic vascular pattern
TREATMENT
1. Adult rhabdomyoma – surgical resection of head and
neck lesions
2. Fetal rhabdomyomas – excision from various parts
of the body without much difficulty
3. Genital rhabdomyomas – local excision
4. Cardiac rhabdomyomas – Open heart surgery

PROGNOSIS PROGNOSIS
• For patients who have undergone surgical
removal: fair to good
• For patients with cardiac rhabdomyomas: highest
risk