Maffucci syndrome

Maffucci syndrome is a rare, complex developmental disorder of mesodermal tissue that occurs sporadically as a rule, very rarely has an autosomal dominant inheritance. It is a benign condition, but in 20% with a malignant transformation ( chondrosarcoma, fibrosarcoma and hemangiomas, as well as gliomas) expected.

It is named after the pathologist Angelo Maffucci ( 1847-1903 ).

Synonyms

• Osteochondromatosis - Hämangiose syndrome
• Kast 's syndrome, according to Alfred Kast (1856-1903), who published the corresponding work with Friedrich Daniel von Recklinghausen in 1889
• Maffucci - Kast syndrome
• Dyschondroplasia haemangiomatosa

Symptoms

The syndrome is characterized by a Enchondromatosis (multiple benign cartilage tumors) as well as deep cavernous hemangiomas and lymphangiomas of the skin and internal organs. Affected children are after birth initially unremarkable, pain does not usually occur on first. Deformities of the bones and cartilage in accordance with the localization of enchondromas occur during further growth, sometimes pathological fractures in childhood are the result. The degree of disability can range from mild impairment of daily life to the most severe disabilities. The bone and skin lesions are asymmetrically distributed, without adhering to anatomical structures.