FaCD Online Syndrome Fact Sheet

Last updated: 12 Jun 2008

Name: Chemodectoma, Intra-abdominal, with Cutaneous Angiolipomas

Mode of Inheritance: AR?/ AD?/ multifact?

Tumor features

cutaneous angiolipomas
paraganglioma, nonchromaffin (incl.: glomus tumor/chemodectoma)

Comment

Lee et al[1] reported a Maori family in which a 37-year-old man presented with multiple malignant chemodectomas, para-aortic extending to the liver, and tumors in the duodenum, pancreas, lungs and skull. He also had multiple subcutaneous angiolipomas of the limbs and abdominal wall. Two brothers had died before the age of 45, cause unknown. One of them was reported to have had multiple skin tumors. Another, 40-year-old, brother had similar skin tumors and presented with a malignant chemodectoma involving one of the kidneys and metastases in bones and lungs.

References

[1] Lee SP, Nicholson GI, Hitchcock G. Familial abdominal chemodectomas with associated cutaneous angiolipomas. Pathology 1977; 9:173-177.