CASE 12291 Published on 26.11.2014

Maffucci syndrome

Section

Musculoskeletal system

Case Type

Clinical Cases

Authors

Filipa Vieira, Diogo Rocha

Email: f_g_v@msn.com
Patient

44 years, female

Categories
Area of Interest Abdominal wall, Musculoskeletal bone, Bones, Musculoskeletal soft tissue ; Imaging Technique Conventional radiography
Clinical History
A 44-year-old woman with a known skeletal disorder since her childhood presented with chest and shoulder pain.
Physical examination revealed hand deformities with several bluish nodules of hard consistency, multiple swellings scattered in several ribs and difficulty in mobilizing the shoulders.
Imaging Findings
Plain radiographs revealed features compatible with S. Maffucci in the hands (Fig. 1), ribs, scapula and humerus (Fig. 2).
Enchondromas are radiolucent lesions with osseous expansile remodelling (yellow arrows) and vascular malformations in the adjacent soft tissues have phleboliths (blue arrows).
Discussion
Maffucci Syndrome is a rare mesodermal dysplasia, which is characterized by multiple enchondromas (Ollier disease) with co-existing vascular malformations [1].
It is a non-hereditary congenital disease and the diagnosis is made early in life. It has no gender predominance and affected individuals have normal stature and normal intelligence.

Enchondromas affect short tubular bones, occurring predominantly in the hands (87%) and less frequently in ribs (31%), humerus (42%) and scapula (25%) [2, 3].
It carries a significant risk of fracture and malignant transformation (23%) [1], mostly to chondrosarcoma, which is higher than in Ollier disease and significantly higher than in solitary endochroma of tubular bones. Other malignant tumours have been associated with this syndrome, such as glioma, ovarian and pancreatic cancer, and for that reason long-term follow-up evaluations are necessary.

The classification of vascular anomalies has been reviewed by the International Society for the Study of Vascular Anomalies (ISSVA) [4] in order to unify the nomenclature in this matter. According to this classification, there are two main types of vascular anomalies, vascular tumours and vascular malformations; the differentiation is based on clinical appearance, radiological and pathological features and biological behaviour. Vascular tumours, the most common being infantile haemangioma, represent a neoplastic growth of vascular endothelial cells, and can be benign, locally aggressive/borderline or malignant. In contrast, vascular malformations are considered to be vascular structural anomalies with no neoplastic proliferation of endothelial cells. The latter never disappears and tends to increase with age.
Vascular malformations are further subdivided in low-flow (capillary, venous or lymphatic), high-flow (arterial malformation, arteriovenous fistula or arteriovenous malformation) and combined, according to haemodynamic features and on predominant anomalous channels. This differentiation is quite important, since their morbidity and also their management are entirely different (arterial embolization for high-flow and sclerotherapy for low-flow malformations) [5].
Low-flow malformations are the most common type of vascular malformation and the best indicator is the presence of phleboliths, typically seen as calcified nodules, which is the case of Maffucci syndrome: a enchondromatosis associated with low-flow venous malformations[5].

In plain radiographs, enchondromas are characteristic and computed tomography and magnetic resonance imaging are helpful when malignant degeneration is suspected.
Vascular malformations are well diagnosed on the basis of clinical history and physical findings, but colour Doppler ultrasound and magnetic resonance imaging can be used to characterize these lesions.

No medical care is needed in asymptomatic patients and surgery is indicated for special cases [4].
Differential Diagnosis List
Maffucci syndrome
Ollier disease
Enchondroma
Chondrosarcoma
Vascular malformation
Final Diagnosis
Maffucci syndrome
Case information
URL: https://www.eurorad.org/case/12291
DOI: 10.1594/EURORAD/CASE.12291
ISSN: 1563-4086