Maffucci Syndrome Clinical Presentation

Updated: Jun 07, 2017
  • Author: Stephanie Juliet Campbell, DO; Chief Editor: William D James, MD  more...
  • Print
Presentation

History

Parents of a child with Maffucci syndrome first notice soft, blue-colored growths on the distal aspects of the extremities. Patients with Maffucci syndrome are usually short in stature and may have unequal arm or leg lengths due to the bone abnormalities.

Next:

Physical Examination

In Maffucci syndrome, venous malformations have also been reported in extracutaneous sites such as the leptomeninges, eyes, respiratory tract, and GI tract. The cutaneous vascular malformations may also be present on mucosal surfaces. The lesions typically are compressible, soft, red-blue papules and nodules. [2]

Enchondromas usually are found in the hands (89%), but they can be found on, although not limited to, the foot, tibia, fibula, femur, humerus, ribs, and skull. The tumors appear as nodular outgrowths and can cause a fracture, leading to further complications, such as shortened or unequal length limbs. Patients who are severely affected can have difficulty walking and manually manipulating objects. Note the images below. 

Enchondroma on the left elbow. Enchondroma on the left elbow.
Venous malformations on a patient's right hand. Venous malformations on a patient's right hand.
Previous
Next:

Causes

Maffucci syndrome has no familial pattern of inheritance and appears sporadically. It has been shown to be associated with heterozygous somatic mutations in the isocitrate dehydrogenase 1 and 2 (IDH1/IDH2) genes. [1, 2]

Previous
Next:

Complications

Neoplastic changes occur in enchondromas. Chondrosarcoma is the most common neoplasm in this syndrome, affecting about 30% of patients (see Pathophysiology).

Enchondromas can cause a fracture, leading to further complications, such as shortened or unequal length limbs.

Previous