Maffucci syndrome

Classification according to ICD-10
Q78.4	Enchondromatosis
ICD-10 online (WHO version 2019)

The Maffucci syndrome is a rare, complex developmental disorder of mesodermal tissue, which usually sporadically occurs very rarely, an autosomal - dominant inheritance has. It is a benign disease, but malignant degeneration ( chondro- , hemangio- and fibrosarcomas , as well as gliomas ) is to be expected in 20% .

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

Synonyms

• Osteochondromatosis-Hemangiosis Syndrome
• Kast syndrome , after 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 enchondromatosis (multiple benign cartilage tumors ) and deep cavernous hemangiomas and lymphangiomas of the skin and internal organs. Affected children are initially inconspicuous after birth, pain usually does not occur at first. To deformities of the bone and cartilage according to the localization of enchondromas occurs during further growth, pathologic fractures sometimes in childhood are the result. The degree of disability can range from minor impairments in daily life to the most severe. The bone and skin lesions are distributed asymmetrically without adhering to anatomical structures.

See also

• Metachondromatosis
• Ollier syndrome

Literature and case reports

• AD Bach, KJ Walgenbach, RE Horch: Hemangiosarcoma of the left hand in a patient with the rare combination of Maffucci's and Stewart Treves syndrome. In: VASA. Journal of Vascular Diseases. Journal for vascular diseases Volume 29, Number 1, February 2000, pp. 71-73, ISSN  0301-1526 . PMID 10731892 .
• Reuther L, Herzog M, Hosemann W. Maffucci Syndrome - A Rare Cause of Rhinootoliquorrhea GMS Curr Posters Otorhinolaryngol Head Neck Surg 2007; 3: Doc30

Individual evidence

1. ↑ www.whonamedit.com: Mafucci's syndrome
2. ↑ Kuwahara RT, Skinner RB Jr. Maffucci syndrome: a case report. Cutis. 2002 Jan; 69 (1): 21-2. PMID 11829173

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