Abstract
Extracardiac rhabdomyomas are rare benign tumors showing skeletal muscle differentiation. They can be divided into adult, fetal, and genital subtypes.Fetal rhabdomyomas are rarer than the adult subtype and although usually diagnosed at birth, the diagnosis is based on histology rather than patient age.We present a rare case of a 25-year-old man with a cellular fetal (juvenile) rhabdomyoma, found in the postcricoid region of the hypopharynx.
Highlights
Rhabdomyomas are rare benign mesenchymal lesions, showing cytologic features typical of striated muscle cells [1]
Fetal rhabdomyomas are extremely rare lesions usually discovered in the perinatal period and further divided into classic or myxoid and intermediate types
Fetal rhabdomyoma occurs in association with nevoid basal cell carcinoma syndrome (Gorlin syndrome) where loss-of-function mutations in patched-1 (PTCH1) tumor suppressor gene are involved in the pathogenesis of these tumors
Summary
Rhabdomyomas are rare benign mesenchymal lesions, showing cytologic features typical of striated muscle cells [1]. We present an extremely rare case of a young adult with a postcricoid cellular fetal rhabdomyoma, seen on computed tomography and magnetic resonance imaging. A CT (Figure 1) showed a solid homogeneous submucosal lesion, with regular margins, and mild enhancement in the right postcricoid region of the hypopharynx. Contrast-enhanced CT shows a well-circumscribed solid lesion in the right postcricoid region of the hypopharynx (black arrow). No altered signal intensity was seen on the surrounding cartilages Both axial T2-weighted image (T2WI) (A) and fat-suppressed T2WI (C) showed a slightly hyperintense lesion to the muscle. On axial T1-weighted image (T1WI), the lesion (B) showed homogeneous isointense signal intensity compared to muscle. The multidisciplinary team decided to maintain a short-term follow-up
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