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Maffucci Syndrome

  • Author: Raymond T Kuwahara, MD, MBA; Chief Editor: William D James, MD  more...
 
Updated: Apr 29, 2014
 

Background

Enchondroma with multiple angiomas (Maffucci syndrome) was first reported by Maffucci in 1881 after a 40-year-old woman died from complications following amputation of an arm. The patient had frequent and severe hemorrhage from a vascular tumor for which she was admitted to the hospital. In view of the profuse bleeding, an amputation was performed and the patient died from infection. Maffucci reported a thorough autopsy that described all the main points of the syndrome named after him. In 1941, Carleton et al proposed the eponym Maffucci syndrome.

Maffucci syndrome is a rare genetic disorder that affects both males and females. Maffucci syndrome is characterized by benign enlargements of cartilage (enchondromas); bone deformities; and dark, irregularly shaped hemangiomas. No racial or sexual predilection is apparent in Maffucci syndrome. No familial pattern of inheritance has been shown, but Maffucci syndrome manifests early in life, usually around age 4-5 years, with 25% of cases being congenital. Maffucci syndrome appears to develop from mesodermal dysplasia early in life. Patients apparently are of average intelligence, and no associated mental or psychiatric abnormalities seem to be present. About 160 cases of Maffucci syndrome have been published in the English literature.[1, 2] Note the image below.

Characteristic hemangiomas on the patient's right Characteristic hemangiomas on the patient's right upper extremity. These hemangiomas are benign and asymptomatic.
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Pathophysiology

Maffucci syndrome affects the skin and the skeletal systems. Superficial and deep vascular lesions (usually hemangiomas) often protrude as soft nodules or tumors usually on the distal extremities, but they can appear anywhere. The hemangiomas are usually asymmetric. Venous-lymphatic malformations and hemangioendotheliomas can occur but are much less common.[3, 4, 5, 6] Enchondromas are benign cartilaginous tumors that can appear anywhere, but they are usually found on the phalanges and the long bones. These bone abnormalities are usually asymmetric and cause secondary fractures. Approximately 30-37% of enchondromas can develop into a chondrosarcoma.

The hemangiomas in Maffucci syndrome manifest as blue subcutaneous nodules that can be emptied by pressure. The hemangiomas can be unilateral or bilateral and are usually asymmetric. Thrombi often form within vessels and develop into phleboliths. These phleboliths appear as calcified vessels under microscopic examination.

Enchondromas develop from the mesodermal dysplasia associated with Maffucci syndrome. As the bones grow, some cartilage material is left behind and grows irregularly, developing into the characteristic bone deformities. Bone irregularities in Maffucci syndrome include shortened length of the long bones, unequal leg length, pathologic fractures, and malunion of fractures.

In Maffucci syndrome, neoplastic changes occur in enchondromas. Chondrosarcoma is the most common neoplasm in this syndrome, affecting about 30% of patients. The average age for neoplastic change in Maffucci syndrome patients is 40 years. Vascular neoplasms have occurred in 4 reported cases: 2 hemangiosarcomas and 2 lymphangiosarcomas.

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Epidemiology

Frequency

United States

Maffucci syndrome is rare. Fewer than 100 cases of Maffucci syndrome have been reported in the United States.

International

Maffucci syndrome is rare, with about 160 total case reports in the English literature.

Mortality/Morbidity

Usually in Maffucci syndrome, the skin and bone lesions progress slowly through the first or second decades of life. Bone and skin abnormalities cease by the second to third decade. Maffucci syndrome patients have a good prognosis if no malignant degeneration occurs. Patients usually have a normal life span.

Race

No increased frequency of Maffucci syndrome occurs because of race.

Sex

Maffucci syndrome appears to be sporadically inherited. No sexual bias is present.

Age

Lesions of Maffucci syndrome are first noted usually by age 4-5 years.

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Contributor Information and Disclosures
Author

Raymond T Kuwahara, MD, MBA Dermatologist

Raymond T Kuwahara, MD, MBA is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

Richard P Vinson, MD Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Consulting Staff, Mountain View Dermatology, PA

Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Texas Medical Association, Association of Military Dermatologists, Texas Dermatological Society

Disclosure: Nothing to disclose.

Lester F Libow, MD Dermatopathologist, South Texas Dermatopathology Laboratory

Lester F Libow, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, Texas Medical Association

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

William D James, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Jean Paul Ortonne, MD Chair, Department of Dermatology, Professor, Hospital L'Archet, Nice University, France

Jean Paul Ortonne, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Acknowledgements

Ron Rasberry, MD Associate Professor, Department of Dermatology, University of Tennessee Health Science Center College of Medicine; Chief of Dermatology, Veterans Affairs Medical Center at Memphis

Ron Rasberry, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, Arkansas Medical Society, Association of Military Surgeons of the US, Royal Society of Medicine, and Southern Medical Association

Disclosure: Nothing to disclose.

References
  1. Faik A, Allali F, El Hassani S, Hajjaj-Hassouni N. Maffucci's syndrome: a case report. Clin Rheumatol. 2006 Feb. 25(1):88-91. [Medline].

  2. Tilsley DA, Burden PW. A case of Maffucci's syndrome. Br J Dermatol. 1981 Sep. 105(3):331-6. [Medline].

  3. Shepherd V, Godbolt A, Casey T. Maffucci's syndrome with extensive gastrointestinal involvement. Australas J Dermatol. 2005 Feb. 46(1):33-7. [Medline].

  4. Fernandez-Aguilar S, Fayt I, Noel JC. Spindle cell vulvar hemangiomatosis associated with enchondromatosis: a rare variant of Maffucci's syndrome. Int J Gynecol Pathol. 2004 Jan. 23(1):68-70. [Medline].

  5. Auyeung J, Mohanty K, Tayton K. Maffucci lymphangioma syndrome: an unusual variant of Ollier's disease, a case report and a review of the literature. J Pediatr Orthop B. 2003 Mar. 12(2):147-50. [Medline].

  6. Sun GH, Myer CM 3rd. Otolaryngologic manifestations of Maffucci's syndrome. Int J Pediatr Otorhinolaryngol. 2009 Jul. 73(7):1015-8. [Medline].

  7. Albregts AE, Rapini RP. Malignancy in Maffucci's syndrome. Dermatol Clin. 1995 Jan. 13(1):73-8. [Medline].

  8. Kaplan RP, Wang JT, Amron DM, Kaplan L. Maffucci's syndrome: two case reports with a literature review. J Am Acad Dermatol. 1993 Nov. 29(5 Pt 2):894-9. [Medline].

  9. Spitz JL. Maffucci syndrome. Genodermatosis, A Clinical Guide to Genetic Skin Disorders. Baltimore, Md: Lippincott Williams & Wilkins; 2005. 118-9.

 
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Characteristic hemangiomas on the patient's right upper extremity. These hemangiomas are benign and asymptomatic.
Enchondroma on the left elbow.
Radiograph of a patient's hands showing enchondromas and phleboliths. Areas of translucency represent enchondromas, and opaque spots represent phleboliths.
Hemangiomas on a patient's right hand.
 
 
 
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