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Familial cutaneous leiomyomatosis

H N Thyresson, W P Su

Journal of the American Academy of Dermatology

|April 1, 1981

Summary

This study describes a rare autosomal dominant skin condition causing painful cutaneous leiomyomas. Increased nerve fibers in lesions explain the pain, with management focusing on pain relief and surgical excision.

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Area of Science:

Dermatology
Genetics
Pathology

Background:

Cutaneous leiomyomas are benign tumors arising from smooth muscle cells.
Familial occurrences suggest a genetic predisposition.
Autosomal dominant inheritance patterns are observed in some leiomyomatosis cases.

Observation:

A 24-year-old man presented with multiple, painful, firm, reddish papulonodular skin lesions on his buttocks, thighs, and lower back/legs since age 17.
Family history revealed similar lesions in his mother and maternal aunts, consistent with autosomal dominant inheritance.
Lesions developed rapidly within a year and became significantly painful.

Findings:

Histopathological examination of skin lesions confirmed leiomyomas using hematoxylin-eosin and Masson-trichrome stains.
Bodian's staining revealed increased nerve fibers interlacing within the muscle fibers and surrounding tissue of the leiomyomas.
The presence of aberrant nerve fibers is hypothesized to be the cause of the painful nature of these cutaneous leiomyomas.

Implications:

This case highlights a rare genetic disorder manifesting as painful cutaneous leiomyomas.
Understanding the role of nerve infiltration is crucial for managing pain associated with these tumors.
Treatment strategies include analgesics for pain management and surgical excision for symptomatic lesions.

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