Arch Hand Microsurg.  2024 Sep;29(3):173-178. 10.12790/ahm.24.0019.

An osteolytic lesion of the proximal ulna in a patient with Maffucci syndrome: a case report

• Kim HJ
• Jung SY
• Kim JW
• Park MG

• KMID: 2558741
• DOI: http://doi.org/10.12790/ahm.24.0019

Abstract

Maffucci syndrome is a rare, congenital, and nonhereditary syndrome characterized by the occurrence of multiple enchondromas and hemangiomas. According to previous studies, patients diagnosed with Maffucci syndrome have a higher risk of developing malignant tumors, such as ovarian cancer, pancreatic cancer, breast cancer, and central nervous system cancer, in addition to malignant transformations of enchondromas. The authors report a case of a 37-year-old male patient with Maffucci syndrome who presented with multiple enchondromas and hemangiomas. This patient’s presentation and management are discussed, along with a review of the literature. Maffucci syndrome should be expected when encountering a patient with multiple enchondromas and suspected hemangiomas in the limbs. Even if benign lesions such as enchondromas or hemangiomas are diagnosed, regular follow-up is required to monitor for malignant transformations and the development of malignant tumors in other organs.

Keyword

Maffucci syndrome; Enchondroma; Hemangioma

Figure

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  Fig. 1. (A) Characteristic venous malformations on the patient’s left upper extremity. (B, C) Multiple hemangiomas are seen on the right foot.

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  Fig. 2. (A) Anteroposterior X-ray of the pelvis shows local uneven bone density (arrow) and multiple cystic lesions (arrow) with irregular sclerosis around them. (B, C) Bilateral feet and hands X-rays show multiple soft tissue masses (arrows) demonstrating calcifications on the left hand and right foot.

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  Fig. 3. (A, B) A well-defined lobulated intramedullary metaphyseal lesion (arrow) occupying the proximal ulna and displaying a low signal on T1-weighted imaging (A) and a bright signal on T2-weighted imaging (B). (C, D) The size of the lesion is about 2.8×2.1×1.8 cm. Pelvic magnetic resonance imaging shows multiple lobulated mass lesions with extraosseous extension wand cortical bone destruction in both pelvic bones, which have T1 low signal intensity (C) and T2 heterogeneous high signal intensity (D). Arrows, osteolytic mass in the proximal ulna.

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  Fig. 4. During surgery, erosion and abnormal bony lesions were found. (A) Intraosseous masses found at the right iliac wing. (B) An intraosseous mass found at the right proximal ulna. (C) Specimen taken from the right iliac wing and right proximal ulna for biopsy. Arrows, avascular wax-like masses in the right iliac wing.

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  Fig. 5. Histopathologic findings of the proximal ulna (A, B) and iliac wing (C, D). (A, C) Both tumors were composed of mature hyaline cartilage and showed multinodular architecture (hematoxylin-eosin, ×40 magnification). (B, D) Both tumors showed slightly increased cellularity, with chondrocytes lying in the lacunae and having small round nuclei without marked cytologic atypia (hematoxylin-eosin, ×100 magnification).

Reference

References

1. Lissa FC, Argente JS, Antunes GN, Basso Fde O, Furtado J. Maffucci syndrome and soft tissue sarcoma: a case report. Int Semin Surg Oncol. 2009; 6:2.

2. Garzon MC, Huang JT, Enjolras O, Frieden IJ. Vascular malformations. Part II: associated syndromes. J Am Acad Dermatol. 2007; 56:541–64.

3. Biber C, Ergun P, Turay UY, Erdogan Y, Hizel SB. A case of Maffucci’s syndrome with pleural effusion: ten-year follow-up. Ann Acad Med Singap. 2004; 33:347–50.

4. Verdegaal SH, Bovée JV, Pansuriya TC, et al. Incidence, predictive factors, and prognosis of chondrosarcoma in patients with Ollier disease and Maffucci syndrome: an international multicenter study of 161 patients. Oncologist. 2011; 16:1771–9.

5. Tsao YP, Tsai CY, Chen WS. Maffucci syndrome. J Rheumatol. 2015; 42:2434–5.

6. Amary MF, Damato S, Halai D, et al. Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. Nat Genet. 2011; 43:1262–5.

7. Prokopchuk O, Andres S, Becker K, Holzapfel K, Hartmann D, Friess H. Maffucci syndrome and neoplasms: a case report and review of the literature. BMC Res Notes. 2016; 9:126.

8. Cheng P, Chen K, Zhang S, Mu KT, Liang S, Zhang Y. IDH1 R132C and ERC2 L309I mutations contribute to the development of Maffucci’s syndrome. Front Endocrinol (Lausanne). 2021; 12:763349.

9. Wang D, Su L, Han Y, et al. Direct intralesional ethanol sclerotherapy of extensive venous malformations with oropharyngeal involvement after a temporary tracheotomy in the head and neck: Initial results. Head Neck. 2017; 39:288–96.

10. Silve C, Jüppner H. Ollier disease. Orphanet J Rare Dis. 2006; 1:37.