Cutaneous metastatic chordoma with concomitant tuberous sclerosis.

Publication/Presentation Date

8-1-2006

Abstract

BACKGROUND: Chordomas are rare malignant tumors of notochord origin and are locally aggressive with a metastatic potential. Of noted interest, the skin rarely is seen as a metastatic site.

METHODS AND OBSERVATIONS: We describe a 20-month-old infant whose primary presentation of a clivus-based chordoma was multiple asymptomatic cutaneous nodules. A skin biopsy showed large vacuolated cells embedded in a myxoid stroma. Immunohistochemical staining was positive for S-100, keratin, and epithelial membrane antigen markers consistent with malignant chordoma. Magnetic resonance imaging revealed a clivus-based chordoma with scattered metastases within the neuraxis and multiple visceral sites. Further examination also revealed a diagnosis of tuberous sclerosis.

LIMITATIONS: An observed association between chordoma and tuberous sclerosis cannot be established firmly on the basis of a case report.

CONCLUSIONS: This case illustrates a diagnostic challenge because of the unusual presentation of an already rare tumor. By reporting our case, we hope to assist in the recognition of this rare dermal condition and highlight the speculated coexistence of tuberous sclerosis with chordoma tumors.

Volume

55

Issue

2 Suppl

First Page

6

Last Page

10

ISSN

1097-6787

Disciplines

Medicine and Health Sciences

PubMedID

16843131

Department(s)

Department of Medicine

Document Type

Article

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