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Cutaneous mesenchymal hamartoma with mixed myogenous differentiation.

John Edwin Schrecengost1, Sana Tabbara, James Patterson

  • 1Division of Surgical Pathology, University of Virginia Medical Center, Charlottesville, VA 22908-0214, USA.

Journal of Cutaneous Pathology
|April 25, 2006
PubMed
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A rare perianal hamartoma containing skeletal muscle was identified in an infant. This finding is crucial for differentiating it from various pediatric tumors.

Area of Science:

  • Pediatric Pathology
  • Dermatopathology
  • Skeletal Muscle Biology

Background:

  • Hamartomas are benign, localized overgrowths of disorganized tissues normally found at that site.
  • Skeletal muscle hamartomas are exceptionally rare, particularly in the perianal region.

Observation:

  • A 3-month-old female infant presented with a congenital polypoid perianal lesion.
  • The lesion showed a mixture of mesenchymal elements, predominantly skeletal muscle fascicles.
  • Immunohistochemistry confirmed skeletal muscle markers (muscle-specific actin, desmin) and smooth muscle markers (smooth muscle actin, desmin, h-caldesmon).
  • Abundant elastic fibers were also identified within the lesion.

Findings:

  • The perianal lesion was histologically characterized as a skeletal muscle hamartoma.

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  • The presence of skeletal muscle in this location is highly unusual.
  • Differential diagnosis included juvenile rhabdomyoma, benign Triton tumor, and rhabdomyosarcoma.

    • Implications:

    • This case expands the known locations for skeletal muscle hamartomas.
    • Accurate histological and immunohistochemical evaluation is essential for correct diagnosis.
    • Distinguishing this benign hamartoma from malignant tumors like rhabdomyosarcoma is critical for appropriate patient management.