Images in Vascular Medicine: Clinical and radiological features of Maffucci syndrome.

Abstract

A 26-year-old woman presented with extensive bluish violet nodules on both hands and feet. She reported gradual asymmetric growth on the whole body over the last 20 years, which seriously affected her daily life. Informed consent was obtained, and the patient agreed to publish the case details and images. Maffucci syndrome is a very rare congenital disease caused by somatic mutations in isocitrate dehydrogenase 1 (IDH1) or IDH2. Typical manifestations include venous malformations, spindle-cell hemangiomas, and multiple enchondromas (benign overgrowths of cartilage).1 The same mutations in IDH1 and IDH2 are found in a related disorder, Ollier disease, which can be distinguished from Maffucci symptoms by a lack of venous malformations.2 In contrast to the soft and compressible nature of common venous malformations,3 the venous lesions of Maffucci syndrome typically present with hard and nodular masses in the skin (Panels A-1, B-2, C-2). The morphological abnormalities of veins give rise to blood flow stasis and thrombosis, eventually forming ‘phleboliths’ by calcification, which result in dotted opaque images on plain film X-rays (Panels A–C, white arrows).4 Localized intravascular coagulation (LIC) may be seen in the extensive venous malformations3; however, patients with Maffucci syndrome usually do not present with generalized coagulation dysfunction. Among the cutaneous and subcutaneous venous lesions, spindle-cell hemangiomas may also be found in pathological examinations.5 The enchondromas occur in multiple sites, most often in the metaphysis or epiphysis of the long bone (Panels A–C, black stars), giving rise to dysplasia of the affected bone. In radiological examination, underdevelopment is accompanied by irregular ‘frosted glass’ sign at the end of long bones, indicating the existence of an enchondroma. The unilateral enchondroma presented in this case resulted in severe hypoplasia of the patient’s affected side (Panels A-2, B-1, C-1) in contrast with the healthy side (Panels A-3, B-3, C-3). Notably, enchondromas have the potential for malignant transformation. The frequency of transition to chondrosarcoma is related to the number of enchondromas present and is estimated to occur in 15–40% of patients.2 Images in Vascular Medicine: Clinical and radiological features of Maffucci syndrome