Maffucci Syndrome - An Overview

Introduction

Maffucci syndrome is an infrequent skin and cartilage disorder. Maffucci syndrome is a benign condition causing a growth in the bony cartilage most commonly observed in the hands and feet. Maffucci syndrome affects the skin as a benign blood vessel tumor called a hemangioma. It is found that the prevalence of Maffucci syndrome is more common in young children. Maffucci syndrome is a nonhereditary mesodermal dysplastic condition along with soft tissue hemangiomas. Maffucci syndrome has no gender or geographic preferences. The phalanges and long bones are more commonly involved in Maffucci syndrome.

What Is Maffucci Syndrome?

Maffucci disease is a rare disorder, and it was first described in 1881 by Italian pathologist Angelo Maffucci. Maffucci syndrome is a noncancerous benign condition characterized by multiple enchondromas and soft tissue hemangiomas in the skin. The parts of the body affected by Maffucci syndrome are the limb bones, hands, feet, skull, ribs, and vertebrae. The enchondromas in Maffucci syndrome cause deformed bones, short limbs, and fractures. In addition, the symptoms of Maffucci syndrome include red or purple growth in the skin. The skin growth in Maffucci syndrome is due to the abnormal blood vessels due to hemangioma. In severe cases, Maffucci syndrome leads to a malignant condition. Various names have known for Maffucci syndrome, and the multiple expressions of Maffucci syndrome are given below.

• Achondroplasia angiomatosis.

• Dyschondroplasia and cavernous hemangioma.

• Hemangioma with dyschondroplasia.

• Chondrodysplasia with hemangioma.

• Enchondromatosis with hemangiomata.

• Hemangiomatosis chondrodystrophica.

• Multiple angiomas and enchondromas.

• Kast syndrome.

What Are the Causes of Maffucci Syndrome?

Maffucci syndrome is suggested to be of a genetic origin. The mutation of the IDH1 and IDH2 genes causes Maffucci syndrome. In most reported cases, the IDH1 and IDH2 genes were mutated. Sometimes, a non-mutagenic case is also observed with Maffucci syndrome. Maffucci syndrome is a somatic disorder and is not an inherited condition. The expected etiology for the incidence of Maffucci syndrome is mentioned below.

• Mutation of the IDH1 and IDH2 genes.

• Abnormal function of isocitrate dehydrogenase one and isocitrate dehydrogenase two enzymes.

• Impaired cellular processes.

• Mosaicism.

• Idiopathic.

What Are the Clinical Features of Maffucci Syndrome?

The symptoms of Maffucci syndrome involve skeletal abnormalities, skin abnormalities, and lymph disorders. The skin symptoms are due to impaired blood vessels due to hemangioma. The other symptoms of Maffucci syndrome are given below.

• Reddish or purple growth in the skin.

• Multiple hemangiomas are present, and hemangioma is the initial sign of Maffucci syndrome.

• Hemangiomas 9non-cancerous growth of blood vessels) are seen anywhere on the body.

• Skin growth is blanchable under pressure.

• Bone deformity.

• Shortened limbs.

• Bony projections are seen in hands.

• The skull, ribs, and vertebrae show enchondromas.

• Short stature.

• Muscle weakening.

• Physical impairment.

• Lymph abnormalities, including lymphangiomas (cysts in lymphatic veins that are noncancerous and filled with fluid), are present.

• Swelling in extremities.

• Edematous feet and ankles.

• Bone fractures are called pathologic fractures.

• Usually, pain is absent in benign conditions, whereas pain is observed in severe cases.

• Sometimes, Maffucci syndrome is associated with other cancer types, including ovarian and liver cancer.

How to Diagnose Maffucci Syndrome?

Early diagnosis is possible in Maffucci syndrome. The signs and symptoms of Maffucci syndrome are observed in early childhood. The skin symptoms are the early and initial signs of Maffucci syndrome. Enchondromas, the noticeable bony growth is observed in the hands and feet. The other diagnostic tools to diagnose Maffucci syndrome are given below.

• History of the patient.

• Familial history.

• Physical examination involves the examination of skin changes, bony deformities, and limb abnormalities.

• Imaging techniques include Doppler ultrasound and magnetic resonance imaging (MRI).

• Genetic testing.

• In X-rays, multiple enchondromas are seen.

• CT scans (computed tomography).

What Is the Treatment of Maffucci Syndrome?

There is no treatment available to prevent Maffucci syndrome. Most people with Maffucci syndrome are asymptomatic and painless. Symptomatic management is done to treat the Maffucci syndrome. The patient should be under observation for any signs of malignancy. In severe conditions, surgical management is done to correct the deformities. The various treatment modes for people with Maffucci syndrome are mentioned below.

• In sclerotherapy, the sclerosing agent is used, which causes the abnormal vessels to be shrunk by injecting the solution causing shrinkage.

• Treatments for enchondromas or skeletal problems may include:

  • Scoliosis (abnormally curved spine) can be treated with braces or surgery.

  • Casts, splints, and surgical procedures to repair broken bones.

  • To minimize variations in leg length, shoe lifts, medicines, or surgery may be used.

  • Hand surgery to correct defects.

  • Enchondromas are surgically removed.

• A multidisciplinary treatment approach is made.

• Visiting a nearby oncologist for any severe conditions.

• Other management methods for symptomatic relief include plastic surgery, hematology, genetic study, and interventional radiology.

What Are the Complications of Maffucci Syndrome?

Sometimes the Maffucci syndrome may lead to several complications. Maffucci syndrome is a benign condition, but in some cases, it may lead to malignant diseases. Some of the risks of Maffucci syndrome are given below.

• Bone cancer is called chondrosarcomas.

• Ovarian cancer.

• Liver cancer.

• Pathologic fracture.

• Growth deformity.

• Malignancy.

What Is the Differential Diagnosis of Maffucci Syndrome?

Some of the signs and symptoms of Maffucci syndrome are seen in other conditions. The comparison of symptoms will help in differential diagnosis and avoid misdiagnosis. The differential diagnosis of Maffucci syndrome is given below.

• Ollier disease is a rare skeletal disorder.

• Blue rubber bleb nevus syndrome is a rare blood disorder characterized as multiple, bluish-purple swelling on the skin.

• Proteus syndrome is also called moccasin feet.

Conclusion

Maffucci syndrome is a rare genetic disorder affecting the skin and bone, which is characterized by soft tissue growth on the skin and bony deformities on the hands and feet. Maffucci syndrome is a benign condition usually asymptomatic. The symptoms and signs of Maffucci syndrome are observed in the early childhood period between one to five years of age. Skin usually presents with reddish growth in any region of the body. Early diagnosis is possible in Maffucci syndrome, and the proper treatment is given to manage the symptoms. Surgical treatment is done in severe bony deformities and other malignant situations. A multidisciplinary treatment approach is necessary to avoid the complications and the risk of Maffucci syndrome. However, Maffucci syndrome is not a lethal disease and has poor mortality rates.