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MAFFUCCI'S SYNDROME

Introduction

First described by Angelo Maffucci in 1881, the namesake’s syndrome is a rare disease of the skin and bones. It is congenital, non-hereditary, and characterized by multiple enchondromas associated with soft-tissue hemangiomas.  The hemangiomas can be either visceral or cutaneous.  Enchondromas are solitary, benign, cartilaginous tumors that occur near the growth plate, most commonly in the limbs (especially hands and feet), but also in the skull, ribs, spine, and pelvis. Hemangiomas are tangles of abnormal blood vessels. Both are usually asymptomatic. Maffucci syndrome may be detectable at birth, but usually is not apparent until about 5 years of age. Patients usually have a normal lifespan; intelligence is unaffected; and there are no major limitations on activities. Due to the very high potential for malignant degeneration of the lesions, vigilant surveillance is necessary.

Pathophysiology

  • Maffucci's Syndrome is caused by mutations in the IDH1 or IDH2 gene in most patients.
  • Somatic mutations occur during lifetime, in this case before birth.
  • Mosaicism also occurs in Maffucci's Syndrome.  Some cells that arise from abnormal cell have mutation, but other cells do not.
  • Two hypotheses:
    • Abnormal regulation of proliferation and terminal differentiation of chondrocytes
    • Abnormal pre-birth development of ectoderm and mesoderm

Related Anatomy

  • Bone deformities ( dyschondroplasia) occurs due to enchondromas near bone ends, at growth plate.

Incidence and Related Conditions

  • Since 1881, fewer than 200 cases have been reported worldwide
  • Incidence of chondrosarcoma (cancerous endochondroma) is 40%
  • Sometimes confused with Ollier’s disease, which consists of multiple enchondromas without hemangiomas
  • Transformation of enchondromas into chondrosarcomas can occur especially of skull.
  • Transformation of hemangiomas into vascular malignancies
  • Increased risk of other cancers, including:
    • Pancreatic and hepatic adenocarcinoma
    • Mesenchymal ovarian tumors
    • Brain gliomas and astrocytomas
    • Various sarcomas

Differential Diagnosis

  • Blue rubber bleb nevus syndrome
  • Enchondromatosis
  • Ollier’s disease
  • Proteus syndrome
ICD-10 Codes

  • MAFFUCCI'S SYNDROME

    Diagnostic Guide Name

    MAFFUCCI'S SYNDROME

    ICD 10 Diagnosis, Single Code, Left Code, Right Code and Bilateral Code

    DIAGNOSISSINGLE CODE ONLYLEFTRIGHTBILATERAL (If Available)
    MAFFUCCI'S SYNDROMEQ78.4   

    ICD-10 Reference

    Reproduced from the International statistical classification of diseases and related health problems, 10th revision, Fifth edition, 2016. Geneva, World Health Organization, 2016 https://apps.who.int/iris/handle/10665/246208

Clinical Presentation Photos and Related Diagrams
Graphic Example of Maffucci's Syndrome
  • Classic graphic appearance of Maffucci's Syndrome with hemangiomatous skin changes (arrows) and skeletal deformities (D).
    Classic graphic appearance of Maffucci's Syndrome with hemangiomatous skin changes (arrows) and skeletal deformities (D).
Symptoms
Severe hand deformity with bluish skin discolorations
Reddish-blue, compressible, nodule-like lesions on the skin
Lower limb asymmetry
Micromelia
Typical History

Patients typically present with complaints of recurrent swelling on a hand or foot.  Tender, soft, and reddish-blue hemangiomatous skin lesions will be evident, especially on the hand; if the patient is older than 5 years, these may have progressed to be firm and knotty lesions. The lesions do not necessarily occur near the endochondromas. If the patient was not diagnosed as a child, there may be a history of fractures. Also, an asymmetric gait and unequal extremity lengths may be observed.  There will be no family history of Maffucci syndrome.

Positive Tests, Exams or Signs
Work-up Options
Treatment Options
Treatment Goals
  • Control symptoms and correct deformities
  • Maintain hand function
  • Identify any malignant transformations early and treat effectively
Conservative
  • No medical therapy is available
  • Symptom relief and early detection of malignancies is very important
    • Consultation with an orthopaedic surgeon and/or a dermatologist is always recommended.
    • Appropriate monitoring procedure is undetermined; X-ray, computed tomography (CT), and whole-body magnetic resonance imaging (MRI) all have been recommended
Operative
  • Surgical resection of masses, with histologic diagnosis, before they develop into sarcoma
  • Corrective osteotomies and limb lengthening procedures for skeletal lesions
  • Sclerotherapy, irradiation and surgical excisions for vascular lesions should all be considered as treatment options.
  • Given the rarity of this syndrome, the treatment plan, particularly surgical treatment, must be individualized. 
CPT Codes for Treatment Options

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CPT Code References

The American Medical Association (AMA) and Hand Surgery Resource, LLC have entered into a royalty free agreement which allows Hand Surgery Resource to provide our users with 75 commonly used hand surgery related CPT Codes for educational promises. For procedures associated with this Diagnostic Guide the CPT Codes are provided above. Reference materials for these codes is provided below. If the CPT Codes for the for the procedures associated with this Diagnostic Guide are not listed, then Hand Surgery Resource recommends using the references below to identify the proper CPT Codes.

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Complications
  • Following surgical treatment of isolated single enchondromas in the hand, the majority of patients achieve complete bony healing and full range of motion
  • For intracranial chondrosarcoma:
    • Complete surgical excision, although recommended, is difficult due to achieve especially with lesions in proximity to the neurovascular structures.
    • Cranial nerve palsies after head and neck procedures may be postoperative complication(s).
    • Residual tumor and recurrence unfortunately occurs in the many of the surgical cases.
Outcomes
  • Future studies are needed to establish appropriate optimum monitoring protocol to detect malignancies.
  • If no malignant transformation occurs, patients have a normal lifespan.
Key Educational Points
  • Although not hereditary, Maffucci syndrome is believed to result from spontaneous pre-birth mutations.
  • The disease may not be detected until abnormal childhood sketetal growth occurs and/or suspicious nodule-like lesions are observed.
  • Management is surgical, for symptom relief and detection of malignancy.
  • Lifespan, intelligence, and activities are unaffected unless a malignancy develops.
References

NIH Rare Disease Information

  1. Maffucci syndrome. Last updated 2014 and 2016. Accessed September 11, 2016 at https://rarediseases.info.nih.gov/diseases/6958/maffucci-syndrome
  2. Genetics Home Reference: Maffucci syndrome. 2016. Accessed September 11, 2016 at https://ghr.nlm.nih.gov/condition/maffucci-syndrome

New Articles

  1. Elston JB, Payne WG. Interesting case series: Maffucci syndrome. Eplasty 2014;14:ic11. PMID: 24917896
  2. Khan YA, Ahmad S. Maffucci’s syndrome or a variant? APSP J Case Rep 2013;4(2):15 Epub. PMID: 24040593
  3. National Organization for Rare Disorders. Maffucci syndrome. 2016. Accessed September 19, 2016 at http://rarediseases.org/rare-diseases/maffucci-syndrome/

Reviews

  1. Prokopchuk O, Andres S, Becker K , et al. Maffucci syndrome and neoplasms: a case report and review of the literature. BMC Res Notes 2016;9(126):1-7. PMID: 26920730
  2. Ngai C, Ding DY, Rapp TB. Maffucci syndrome: an interesting case and a review of the literature. Bull Hosp Jt Dis 2015;73(4):282-5. PMID: 26630472

Classics

  1. Dini LI, Isolan GR, Saraiva GA, et al. Maffucci’ s syndrome complicated by intracranial chondrosarcoma: two new illustrative cases. Arq Neuropsiquiatr 2007;65(3B):816-21. PMID: 17952287
  2. Nardell SG. Ollier’s disease: dyschondroplasia. Br Med J 1950;2(4678):555-7. PMID: 15434456
  3. Schwartz HS, Zimmerman NB, Simon MA, Wroble RR, Millar EA, Bonfiglio M. The malignant potential of enchondromatosis.  J Bone J Joint Am. 1987;69(2): 269-307.
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