Cutaneous metastatic chordoma with concomitant tuberous sclerosis.
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
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.


CONCLUSIONS
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.
Lountzis
Nektarios I
NI
Geisinger Medical Center, Danville.
Hogarty
Michael D
MD
Kim
Ho J
HJ
Junkins-Hopkins
Jacqueline M
JM
D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001932:Brain Neoplasms / Q000188:drug therapy / Q000473:pathology*; D002817:Chordoma / Q000150:complications* / Q000188:drug therapy / Q000556:secondary*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D012074:Remission Induction; D012867:Skin / Q000473:pathology; D012878:Skin Neoplasms / Q000150:complications* / Q000188:drug therapy / Q000556:secondary*; D014402:Tuberous Sclerosis / Q000150:complications* / Q000473:pathology