Random Dermatology MCQ - Maffucci Syndrome

A 15-year-old boy presents with multiple, firm, subcutaneous nodules on the hands and feet, first noted in early childhood. He also has hard, bluish, superficial masses on the fingers. Plain radiographs of the affected limbs reveal multiple, radiolucent cartilaginous tumors with stippled calcifications in the metaphyses of the short tubular bones. Additionally, there are numerous phleboliths within soft tissue masses. What is the most likely diagnosis and its most significant associated risk?

A. Maffucci syndrome; characterized by enchondromas and venous malformations, with a high risk of malignant transformation to chondrosarcoma.
B. Ollier disease; characterized by multiple enchondromas without vascular lesions, with a risk of malignant transformation.
C. Blue rubber bleb nevus syndrome; characterized by venous malformations of the skin and GI tract, without bony tumors.
D. Klippel-Trenaunay syndrome; characterized by capillary-lymphatic-venous malformation with limb hypertrophy, without enchondromas.
E. Proteus syndrome; characterized by asymmetric overgrowth, cerebriform connective tissue nevi, and a risk of deep venous thrombosis.

Correct Answer: A. Maffucci syndrome; characterized by enchondromas and venous malformations, with a high risk of malignant transformation to chondrosarcoma.

Answer and Explanation

The correct answer is A. This question describes the pathognomonic features of Maffucci syndrome. The key triad is: 1) Multiple enchondromas (the cartilaginous bone tumors seen on X-ray), 2) Venous malformations (the bluish masses containing phleboliths), and 3) The onset in childhood. The presence of both bony lesions (enchondromas) and vascular lesions (venous malformations with phleboliths) is diagnostic for Maffucci syndrome. The most critical complication is the high lifetime risk (up to 40-100%) of malignant transformation of an enchondroma into a chondrosarcoma.

Why the Other Options are Incorrect:

• B. Ollier disease: This is characterized by multiple enchondromas alone, without the vascular malformations. Both Ollier and Maffucci carry a risk of chondrosarcoma, but the presence of vascular lesions defines Maffucci.

• C. Blue rubber bleb nevus syndrome: This features multiple, distinctive venous malformations of the skin and gastrointestinal tract (leading to chronic anemia), but it does not involve enchondromas or bony abnormalities.

• D. Klippel-Trenaunay syndrome: This is a complex vascular malformation syndrome (capillary-lymphatic-venous) associated with soft tissue and bone hypertrophy of a limb. It does not involve enchondromas.

• E. Proteus syndrome: This is a complex, progressive overgrowth syndrome with asymmetric gigantism, cerebriform connective tissue nevi, and a high risk of deep venous thrombosis/pulmonary embolism. It does not involve enchondromas or the specific venous malformations seen in Maffucci.

Additional High-Yield Information for Exams:

• Genetics: Both Maffucci and Ollier disease are caused by postzygotic, somatic mosaic mutations, most commonly in the IDH1 or IDH2 genes. They are almost always sporadic (non-hereditary).

• Clinical Features:

  • Enchondromas: Cause bony swellings, deformity, and potential for pathological fractures. They are most common in the hands and feet (short tubular bones).

  • Venous Malformations: Appear as soft, compressible, bluish masses that may be painful. Phleboliths (calcified thrombi within the malformation) are a classic radiographic sign.

  • Asymmetry: The distribution of both lesions is typically unilateral or highly asymmetric.

• Differential Diagnosis: As outlined, the main differential is Ollier disease. The presence of any vascular malformation changes the diagnosis to Maffucci.

• Associated Conditions & Prognosis:

  • Malignant Transformation: The paramount concern. The lifetime risk of chondrosarcoma is exceptionally high in Maffucci syndrome (often quoted as approaching 100% in some series). Patients are also at increased risk for other malignancies, including ovarian sex-cord stromal tumors, pancreatic adenocarcinoma, brain gliomas, and acute myeloid leukemia.

  • Prognosis: Guarded due to the high malignancy risk and potential for severe skeletal deformity. Lifelong surveillance is mandatory.

• Management & Rationale:

  • Rationale: The primary goals are to detect malignant transformation early and manage complications of the lesions (pain, deformity, fractures).

  • First-line/Obligatory Surveillance: Regular clinical and radiographic evaluation of known enchondromas. Any lesion that becomes painful, increases in size, or shows changes on imaging (e.g., lysis, cortical destruction, soft tissue mass) must be biopsied to rule out chondrosarcoma.

  • Management of Lesions:

    • Enchondromas: Surgical curettage or resection may be needed for symptomatic lesions, deformity, or suspected malignancy.

    • Venous Malformations: Managed with compression garments, sclerotherapy, or surgical resection for symptomatic lesions.

  • Systemic Screening: Consider screening for associated extra-skeletal malignancies based on current guidelines, though no universal protocol exists.