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Multiple hamartoma syndrome with osteosarcoma

B C Yen¹, H Kahn, A L Schiller

¹Department of Dermatology, Mount Sinai School of Medicine, New York, NY 10029-6574.

Archives of Pathology & Laboratory Medicine

|December 1, 1993

Summary

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Cowden's disease, a rare genodermatosis, typically presents with skin lesions and internal abnormalities. This report details a unique case involving osteosarcoma, a cancer not previously linked to Cowden's disease.

Area of Science:

Dermatology
Oncology
Genetics

Background:

Multiple hamartoma syndrome, or Cowden's disease, is a rare genetic disorder.
It is characterized by mucocutaneous lesions and a predisposition to various internal neoplasms.
The exact genetic underpinnings and full spectrum of associated cancers are still being elucidated.

Observation:

A patient presented with classic dermatologic signs of Cowden's disease.
The patient also exhibited multiple malignancies, including thyroid and breast cancer.
Notably, an osteosarcoma was diagnosed, a finding not previously documented in Cowden's disease.

Findings:

This case highlights the association of Cowden's disease with a rare combination of neoplasms.
The presence of osteosarcoma in this patient represents a novel observation for this genodermatosis.

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The findings underscore the extensive neoplastic potential associated with Cowden's disease.

Implications:

This case expands the known spectrum of cancers associated with Cowden's disease.
It suggests a potential, previously unrecognized link between Cowden's disease and osteosarcoma development.
Further research is warranted to investigate this association and its underlying mechanisms.