Maffucci syndrome

Maffucci syndrome is a rare disease that affects the skin and bones, causing tumors in the cartilage, bone deformities and the appearance of dark skin tumors caused by abnormal growth of blood vessels.

The causes of Maffucci's Syndrome are genetic and affect men and women equally. Generally, the symptoms of the disease develop in childhood around 4-5 years of age.

Maffucci's syndrome has no cure, but patients can receive treatment to reduce the symptoms of the disease and improve their quality of life.

Symptoms of Maffucci Syndrome

The main symptoms of Maffucci syndrome are:

Benign tumors in the cartilage of the hands, feet and long bones of the arm and legs; Bones become fragile and can easily fracture; Shortening of the bones; Hemangiomas, which consist of small soft dark or bluish tumors on the skin; Short stature; Lack of muscle.

Individuals with Maffucci Syndrome can develop bone cancer, especially in the skull, but also ovarian or liver cancer.

The diagnosis of Maffucci's Syndrome is made through physical examination and analysis of the symptoms presented by the patients.

Treatment of Maffucci's Syndrome

The treatment of Maffucci's Syndrome consists of minimizing the symptoms of the disease through surgery to correct bone deformities or supplements to help the child's growth.

Individuals affected by the disease should regularly consult with the orthopedic doctor to assess changes in the bones, development of bone cancer and to treat fractures that occur due to the disease. The dermatologist should also be consulted to assess the appearance and development of hemangiomas on the skin.

It is important for patients to have regular physical examinations, radiographs or CT scans.