Maffucci syndrome

Toddler with

finger pain. AP (left) and oblique (right) radiographs of the hand show, in the second / third / fourth phalanges, multiple metaphyseal lesions that are lytic with a narrow zone of transition and no periosteal reaction.The diagnosis was enchondromatosis. The patient also had multiple soft tissue hemangiomas and therefore was diagnosed with Maffucci syndrome.

pediatricimaging.org • CC-by-nc-sa 4.0

Sclerosing

angiomatoid nodular transformation of the spleen in a patient with Maffucci syndrome: a case report and review of literature. Preoperative imaging studies. CR images of both hands (a) and feet (b) show multiple bone deformations (white arrows). The abdominal CT (c) demonstrates a huge nodular hyperplasia of the spleen which is considered as angioma (black solid arrow), and a vascular lesion of the 10th rib (black doted arrow)

diagnosticpathology.biomedcentral.com • CC-by-4.0

Maffucci

syndrome • Maffucci syndrome - Ganzer Fall bei Radiopaedia

Radswiki T, Maffucci syndrome. Case study, Radiopaedia.org (Accessed on 07 Oct 2023) https://doi.org/10.53347/rID-11591 • CC by-nc-sa 3.0 (modified)

Bone tumors

• Maffucci syndrome - Ganzer Fall bei Radiopaedia

Pedrollo I, Maffucci syndrome. Case study, Radiopaedia.org (Accessed on 05 Jan 2023) https://doi.org/10.53347/rID-30940 • CC by-nc-sa 3.0 (modified)

Maffucci

syndrome • Maffucci syndrome - Ganzer Fall bei Radiopaedia

Asiri Y, Maffucci syndrome. Case study, Radiopaedia.org (Accessed on 07 Oct 2023) https://doi.org/10.53347/rID-65002 • CC by-nc-sa 3.0 (modified)

Maffucci-Syndrom:

Axiale, T1-gewichtete, kontrastmittelunterstützte MRT eines Maffucci-Syndrom-Patienten mit multiplen Enchondromen des Schulterblattes (blauer Pfeil) und des Humerus (roter Pfeil), sichtbar als hyperintense Aufhellungszonen.

www.compgefa.de • CC-by-nc-sa-4.0

Radiopaedia • CC-by-nc-sa 3.0 • de

Maffucci syndrome is a congenital nonhereditary mesodermal dysplasia characterized by multiple enchondromas with soft-tissue venous malformations (hemangiomas).

On imaging, it is usually portrayed by a short limb with metaphyseal distortions due to multiple enchondromas, which may appear grotesque, and soft tissue masses with phleboliths depicting hemangiomas.

Epidemiology

There is a recognized male predilection.

Clinical presentation

The clinical symptoms of Maffucci syndrome are present at birth or manifest in the 1^st year of life in approximately a quarter of cases. In just under half of cases, the onset of symptoms is before the age of 6 years, and in three-quarters of cases, symptoms start before puberty. The hemangiomas appear as blue subcutaneous nodules that can be emptied by manual compression.

Distribution

The distribution of enchondromas is similar to Ollier disease with the hands and feet most often being affected. The skeletal and vascular lesions in the extremities are usually asymmetrically distributed, with unilateral changes seen in about 50% of patients.

The hemangiomas are mostly located in the subcutaneous soft tissues.

Associations

juvenile granulosa tumor of the ovary

Radiographic features

Plain radiograph

Radiographic appearances are nearly pathognomonic, with multiple enchondromas seen associated with soft tissue swelling and phleboliths.

Treatment and prognosis

When there is a shortening of the involved limb, orthopaedical surgery for limb lengthening is usually performed during childhood.

Complications

Enchondromas degenerate into chondrosarcomas in 15-51% of cases and soft-tissue hemangiomas to vascular sarcomas in 3-5%. Additionally, there is also an increase in other malignancies (pancreatic carcinoma and gliomas).