Maffucci's syndrome with oral and intestinal haemangioma.

Abstract

Sir, The syndrome of multiple enchondromas and subcutaneous haemangioma was first described by Maffucci in 1881.1 Maffucci's syndrome is a non‐hereditary disorder and is generally regarded to result from mesodermal dysplasia. Saavedra et al.2 reported that this syndrome is not associated with any chromosomal abnormality, whereas Matsumoto et al.3 found inversion of p11 and q21 of chromosome 1. However, the true relation between this syndrome and chromosomal abnormalities is still not fully known. Patients with this syndrome are usually normal at birth. The presenting symptoms may be skeletal or vascular and usually occur in infancy. Maffucci's syndrome may be associated with three types of vascular lesions, namely cavernous haemangiomas, phlebectasias and lymphangiectasias–lymphangiomas. The bony and soft‐tissue lesions are likely to be much more extensive on one side of the body than the other, with the osseous lesions most frequently involving the phalanges, metacarpals and metatarsals.4 The association of Maffucci's syndrome and intestinal haemangioma is exceedingly rare. We report a case of Maffucci's syndrome in which intestinal and oral haemangiomas were combined.