Maffucci Syndrome.pptx trade in for new ppt

Maffuci

1. Maffucci syndrome Orthopedic and Traumatology Department Hasanuddin University Makassar 2025

2. Introduction Maffucci syndrome is a rare disorder of bone and soft tissue characterized by multiple enchondromas and hemangiomas A rare disease with skeletal and vascular abnormalities Angelo Maffucci, 1881 McGarry, M.E. (2017) 'Long term oncologic surveillance in Maffucci syndrome: A case report,' Journal of Oncological Sciences, 3(3), pp. 140–144. https://doi.org/10.1016/j.jons.2017.08.003.

3. Extremely rare, with fewer than 200 reported cases No gender predilection Onset typically in childhood Epidemiology McGarry, M.E. (2017) 'Long term oncologic surveillance in Maffucci syndrome: A case report,' Journal of Oncological Sciences, 3(3), pp. 140–144. https://doi.org/10.1016/j.jons.2017.08.003.

4. Etiology and Pathogenesis Somatic mutations in IDH1 or IDH2 (80%) Accumulation of 2-hydroxyglutarate, leading to abnormal cell differentiation McGarry, M.E. (2017) 'Long term oncologic surveillance in Maffucci syndrome: A case report,' Journal of Oncological Sciences, 3(3), pp. 140–144. https://doi.org/10.1016/j.jons.2017.08.003.

5. Clinical Manifestations (1) – Enchondroma Benign cartilage tumors (enchondromas) in long bones Common in hands, feet, and other extremities Increased risk of pathological fractures McGarry, M.E. (2017) 'Long term oncologic surveillance in Maffucci syndrome: A case report,' Journal of Oncological Sciences, 3(3), pp. 140–144. https://doi.org/10.1016/j.jons.2017.08.003.

6. Clinical Manifestations (2) – Hemangioma Vascular lesions such as cutaneous or subcutaneous hemangiomas May cause deformities and functional impairment Wang, Y.-P. et al. (2023) 'A rare presentation of Maffucci syndrome: A case report and literature review,' Experimental and Therapeutic Medicine, 26(3). https://doi.org/10.3892/etm.2023.12134.

7. Clinical Manifestations (3) – Malignant Transformation High risk of chondrosarcoma transformation Increased risk of vascular malignancies such as angiosarcoma Wang, Y.-P. et al. (2023) 'A rare presentation of Maffucci syndrome: A case report and literature review,' Experimental and Therapeutic Medicine, 26(3). https://doi.org/10.3892/etm.2023.12134.

8. Radiologic Findings (1) – Enchondroma X-ray: lytic lesions with sclerotic margins MRI: characteristic nodular cartilage appearance Wang, Y.-P. et al. (2023) 'A rare presentation of Maffucci syndrome: A case report and literature review,' Experimental and Therapeutic Medicine, 26(3). https://doi.org/10.3892/etm.2023.12134.

9. Radiologic Findings (2) – Hemangioma Doppler ultrasound: abnormal vascular flow MRI: hypointense on T1 and hyperintense on T2 Wang, Y.-P. et al. (2023) 'A rare presentation of Maffucci syndrome: A case report and literature review,' Experimental and Therapeutic Medicine, 26(3). https://doi.org/10.3892/etm.2023.12134.

10. Differential Diagnosis Ollier Disease Multiple Hereditary Exostoses McCune-Albright Syndrome (enchondromas only, no hemangiomas) Wang, Y.-P. et al. (2023) 'A rare presentation of Maffucci syndrome: A case report and literature review,' Experimental and Therapeutic Medicine, 26(3). https://doi.org/10.3892/etm.2023.12134.

11. Based on clinical and radiologic findings Confirmation through biopsy (if malignancy is suspected) Genetic testing: IDH1/IDH2 mutations Diagnosis Shen, Y. et al. (2022) 'Images in Vascular Medicine: Clinical and radiological features of Maffucci syndrome,' Vascular Medicine, 27(5), pp. 515–517. https://doi.org/10.1177/1358863x221101654.

12. Management (1) – Enchondroma Regular monitoring with imaging Surgical intervention if pain, fractures, or deformities occur Shen, Y. et al. (2022) 'Images in Vascular Medicine: Clinical and radiological features of Maffucci syndrome,' Vascular Medicine, 27(5), pp. 515–517. https://doi.org/10.1177/1358863x221101654.

13. Management (2) – Hemangioma Laser therapy or sclerotherapy for small hemangiomas Surgical excision if painful or functionally impairing Shen, Y. et al. (2022) 'Images in Vascular Medicine: Clinical and radiological features of Maffucci syndrome,' Vascular Medicine, 27(5), pp. 515–517. https://doi.org/10.1177/1358863x221101654.

14. Management (3) – Malignancy Prevention Routine screening with MRI or CT scan Biopsy if rapid growth or increasing pain occurs Shen, Y. et al. (2022) 'Images in Vascular Medicine: Clinical and radiological features of Maffucci syndrome,' Vascular Medicine, 27(5), pp. 515–517. https://doi.org/10.1177/1358863x221101654.

15. Prognosis Quality of life depends on skeletal and vascular complications Worse prognosis if malignancy develops Khan, M.T. et al. (2022) 'Maffucci syndrome: Case report and review of diagnostic signs of the rare disease,' Radiology Case Reports, 17(10), pp. 3674–3677. https://doi.org/10.1016/j.radcr.2022.07.008.

16. Physical examination. (A) Dark red nodular lesions (~4x3 cm) was observed on (B) medial side of the left upper arm and (C) left elbow (~1x1 cm). (D) Finger deformity of the left hand showed several light blue (E) subcutaneous nodules of different sizes, which were (F) soft, well‑defined and painless. (G) Patient stature was short. (H) Upper limb were thick and short. (I) Lower limbs were not equal in length and the left lower limb was shorter than the right lower limb by 15 cm. Case Study Khan, M.T. et al. (2022) 'Maffucci syndrome: Case report and review of diagnostic signs of the rare disease,' Radiology Case Reports, 17(10), pp. 3674–3677. https://doi.org/10.1016/j.radcr.2022.07.008.

17. X‑ray images of the lower limbs, upper limbs and shoulder blades demonstrate formation of multiple endochondroma. Developmental malformations of (A) R humerus, ulna and hand, (B) L hand, (C) humerus, (D) radius, (E) thoracic vertebrae, (F) L femoral condyle (G) trochanter of femur and tibia and (H) fibula. R, right; L, left; The white arrows are pointing to tumors. Case Study Khan, M.T. et al. (2022) 'Maffucci syndrome: Case report and review of diagnostic signs of the rare disease,' Radiology Case Reports, 17(10), pp. 3674–3677. https://doi.org/10.1016/j.radcr.2022.07.008.

18. Large hemangioma on back. Case Study Microscopic section of back lesion. Khan, M.T. et al. (2022) 'Maffucci syndrome: Case report and review of diagnostic signs of the rare disease,' Radiology Case Reports, 17(10), pp. 3674–3677. https://doi.org/10.1016/j.radcr.2022.07.008.

19. Maffucci syndrome is a very rare disease characterized by multiple enchondromas in the presence of additional vascular lesions. There is a significant increased risk for both sarcomatous degeneration of the enchondromas as well as pancreatic, breast and CNS malignancies. There may be an association with IDH-1 and/or IDH-2 gene mutations and research is ongoing. There is a need for both treatment of the immediate orthopedic aspects of the disease as well as systematic approach to ongoing surveillance for associated malignancies. Conclusion

20. THANK YOU