DYSCHONDROPLASIA WITH MULTIPLE HEMANGIOMATA (MAFFUCCI'S SYNDROME)

Abstract

An additional case, the 35th in the literature, of this rare syndrome is described. A 40-year-old woman, born in Iraq, presented the typical enchondromatous skeletal changes of upper and lower extremities as well as the thorax resulting in gross deformities. Skin changes consisting of phlebactasias, hemangiomata, lymphangiomata and various skin discolorations, as well as vascular swellings of the mucous membrane of the tongue were observed. Numerous phleboliths were distributed in the soft tissues. The left breast contained a painful mass considered to be an angiomatous formation. Localized sweating and temperature changes were observed on the skin of angiomatous convolutions of the left foot. Inflammatory skin changes appeared during the course of observation resulting in pigmentary skin formations. Histological examination of a biopsy specimen from 1 of these pigmentations revealed lymphangiectatic changes as the main pathology. The contention is made that the various pigmentary changes observed in some of the cases of Maffucci''s syndrome in the literature may have their origin in vascular lesions.