Resumen
El síndrome de Gorham-Stout (EGS) es una malformación linfática rara con menos de 400 casos documentados, caracterizada por osteólisis progresiva y afectación multisistémica. Su manejo refractario a terapias convencionales representa un desafío clínico significativo. Esta revisión sistemática, siguiendo PRISMA 2020, sintetiza la evidencia actual sobre mecanismos fisiopatológicos, diagnóstico y estrategias terapéuticas emergentes para el EGS multisistémico refractario, con énfasis en cirugía robótica, microcirugía vascular e inmunoterapia. Se buscó en PubMed, Scopus, Web of Science y Orphanet hasta mayo de 2026, incluyendo 74 estudios. Los resultados sugieren que la cirugía robótica ofrece ventajas en precisión para estabilización espinal y reconstrucciones complejas; la microcirugía vascular controla la fuga linfática; y la inmunoterapia con interferón-alfa, sirolimus y bisfosfonatos estabiliza la enfermedad en casos seleccionados. El manejo requiere un enfoque multidisciplinario, pero la falta de ensayos clínicos y heterogeneidad limitan la evidencia de alta calidad. Se necesitan registros prospectivos y criterios diagnósticos validados.
Citas
[1] Z. Zhou, T. Qiu, J. Zhou, Z. Zhang, X. Gong, X. Zhang, Y. Lan, C. Yang, Y. Zhang, S. Xiang, and Y. Ji, "Clinical features and current management experience in Gorham-Stout disease: a systematic review," Orphanet J. Rare Dis., vol. 20, p. 134, Mar. 2025. doi: 10.1186/s13023-025-03649-9.
[2] A. B. Burke, C. Dong, and S. R. Chandra, "Updates to the Management of Gorham-Stout Disease and Osseous Vascular Lesions in the Head and Neck," Oral Maxillofac Surg Clin North Am, vol. 36, no. 1, pp. 93-102, Feb. 2024. doi: 10.1016/j.coms.2023.09.006.
[3] A. Takahashi, C. Ogawa, T. Kanazawa, H. Watanabe, M. Suzuki, N. Suzuki, Y. Tsuchida, A. Morikawa, and H. Kuwano, "Remission induced by interferon alfa in a patient with massive osteolysis and extension of lymph-hemangiomatosis: a severe case of Gorham-Stout syndrome," J. Pediatr. Surg., vol. 40, no. 3, pp. E47-E50, Mar. 2005. doi: 10.1016/j.jpedsurg.2004.11.015.
[4] H. Di, B. Zhang, N. Xu, Y. Yin, X. Han, Y. Zhang, and X. Zeng, "Refractory serositis in Gorham–Stout syndrome," Orphanet J. Rare Dis., vol. 17, p. 152, Apr. 2022. doi: 10.1186/s13023-022-02307-8.
[5] M. Rossi, I. Rana, P. S. Buonuomo, G. Battafarano, V. De Martino, M. D’Agostini, et al., "Stimulation of Treg cells to inhibit osteoclastogenesis in Gorham-Stout disease," Front. Cell Dev. Biol., vol. 9, p. 706596, 2021. doi: 10.3389/fcell.2021.706596.
[6] Y. S. Park, J. M. Goo, and J. G. Im, "Gorham-Stout syndrome (GSS): A rare disease characterized by localized bone resorption," Korean J. Radiol., vol. 26, no. 10, pp. 951-958, Oct. 2025. doi: 10.3348/kjr.2025.0264.
[7] M. J. Page, J. E. McKenzie, P. M. Bossuyt, I. Boutron, T. C. Hoffmann, C. D. Mulrow, L. Shamseer, J. M. Tetzlaff, E. A. Akl, S. E. Brennan, R. Chou, J. Glanville, J. M. Grimshaw, A. Hróbjartsson, M. M. Lalu, T. Li, E. W. Loder, E. Mayo-Wilson, S. McDonald, and D. Moher, "The PRISMA 2020 statement: An updated guideline for reporting systematic reviews," BMJ, vol. 372, p. n71, 2021. doi: 10.1136/bmj.n71.
[8] S. Liu, X. Zhou, A. Song, X. Kong, Y. Wang, and Y. Liu, "Successful treatment of Gorham-Stout syndrome in the spine by vertebroplasty with cement augmentation: A case report and literature review," Medicine (Baltimore), vol. 97, no. 29, p. e11555, Jul. 2018. doi: 10.1097/MD.0000000000011555.
[9] E. Grigoriou, M. B. Transtrum, S. Oishi, C. E. Johnston, and M. E. Johnson, "Tibiopelvic rotational arthroplasty for pediatric Gorham-Stout disease: A case report and surgical technique," JBJS Case Connect., vol. 14, no. 4, p. e24.00172, Oct.-Dec. 2024. doi: 10.2106/JBJS.CC.24.00172.
[10] M. Kose, S. Pekcan, D. Dogru, C. Akyuz, U. Ozcelik, Y. Ozsurekci, B. Gulhan, M. Demircin, and N. Kiper, "Gorham-Stout Syndrome with chylothorax: successful remission by interferon alpha-2b," Pediatr. Pulmonol., vol. 44, no. 6, pp. 613-615, Jun. 2009. doi: 10.1002/ppul.20849.
[11] N. Morimoto, H. Ogiwara, K. Suzuki, M. Oya, T. Hori, and T. Otsuki, "Gorham-Stout syndrome affecting the temporal bone with cerebrospinal fluid leakage," Int. J. Pediatr. Otorhinolaryngol., vol. 77, no. 9, pp. 1596-1600, Sep. 2013. doi: 10.1016/j.ijporl.2013.06.001.
[12] D. K. Kuriyama, S. C. McElligott, D. W. Glaser, and K. S. Thompson, "Treatment of Gorham-Stout disease with zoledronic acid and interferon-α: a case report and literature review," J. Pediatr. Hematol. Oncol., vol. 32, no. 8, pp. 579-584, Nov. 2010. doi: 10.1097/MPH.0b013e3181edb464.
[13] L. Cramer, S. Wei, A. C. Merrow, and J. G. Pressey, "Gorham-Stout Disease Successfully Treated With Sirolimus and Zoledronic Acid Therapy," J. Pediatr. Hematol. Oncol., vol. 38, no. 3, pp. e129-e132, Apr. 2016. doi: 10.1097/MPH.0000000000000514.
[14] T. Mao, L. Xu, Y. Yu, Z. Li, and J. Sheng, "Use of zoledronic acid combined with thalidomide in the treatment of Gorham–Stout disease," Rheumatology (Oxford), vol. 57, no. 6, pp. 1122-1124, Jun. 2018. doi: 10.1093/rheumatology/key055.
[15] D. A. Ramaroli, P. Cavarzere, M. Cheli, M. Provenzi, M. Barillari, G. Rodella, R. Gaudino, and F. Antoniazzi, "A Child with Early-Onset Gorham-Stout Disease Complicated by Chylothorax: Near-Complete Regression of Bone Lesions with Interferon and Bisphosphonate Treatment," Horm. Res. Paediatr., vol. 91, no. 6, pp. 406-410, 2019. doi: 10.1159/000495364.
[16] K. Stawarz, A. Galazka, F. Kissin, and J. Zwolinski, "A new therapeutic approach in Gorham–Stout disease: a case report," Front. Surg., vol. 10, p. 1225209, Sep. 2023. doi: 10.3389/fsurg.2023.1225209.
[17] G. M. Quille Chuisaca, M. C. Ortiz Vega, B. L. Patiño López, J. L. Nugra Sanchez, J. L. Castillo Lopez, and J. J. Ayora Muñoz, "Síndrome de Gorham Stout: Reporte de Caso y Revisión de la Literatura," iberociencias, vol. 4, no. 4, pp. 2956-2969, Dec. 2025. doi: 10.63371/ic.v4.n4.a535.
[2] A. B. Burke, C. Dong, and S. R. Chandra, "Updates to the Management of Gorham-Stout Disease and Osseous Vascular Lesions in the Head and Neck," Oral Maxillofac Surg Clin North Am, vol. 36, no. 1, pp. 93-102, Feb. 2024. doi: 10.1016/j.coms.2023.09.006.
[3] A. Takahashi, C. Ogawa, T. Kanazawa, H. Watanabe, M. Suzuki, N. Suzuki, Y. Tsuchida, A. Morikawa, and H. Kuwano, "Remission induced by interferon alfa in a patient with massive osteolysis and extension of lymph-hemangiomatosis: a severe case of Gorham-Stout syndrome," J. Pediatr. Surg., vol. 40, no. 3, pp. E47-E50, Mar. 2005. doi: 10.1016/j.jpedsurg.2004.11.015.
[4] H. Di, B. Zhang, N. Xu, Y. Yin, X. Han, Y. Zhang, and X. Zeng, "Refractory serositis in Gorham–Stout syndrome," Orphanet J. Rare Dis., vol. 17, p. 152, Apr. 2022. doi: 10.1186/s13023-022-02307-8.
[5] M. Rossi, I. Rana, P. S. Buonuomo, G. Battafarano, V. De Martino, M. D’Agostini, et al., "Stimulation of Treg cells to inhibit osteoclastogenesis in Gorham-Stout disease," Front. Cell Dev. Biol., vol. 9, p. 706596, 2021. doi: 10.3389/fcell.2021.706596.
[6] Y. S. Park, J. M. Goo, and J. G. Im, "Gorham-Stout syndrome (GSS): A rare disease characterized by localized bone resorption," Korean J. Radiol., vol. 26, no. 10, pp. 951-958, Oct. 2025. doi: 10.3348/kjr.2025.0264.
[7] M. J. Page, J. E. McKenzie, P. M. Bossuyt, I. Boutron, T. C. Hoffmann, C. D. Mulrow, L. Shamseer, J. M. Tetzlaff, E. A. Akl, S. E. Brennan, R. Chou, J. Glanville, J. M. Grimshaw, A. Hróbjartsson, M. M. Lalu, T. Li, E. W. Loder, E. Mayo-Wilson, S. McDonald, and D. Moher, "The PRISMA 2020 statement: An updated guideline for reporting systematic reviews," BMJ, vol. 372, p. n71, 2021. doi: 10.1136/bmj.n71.
[8] S. Liu, X. Zhou, A. Song, X. Kong, Y. Wang, and Y. Liu, "Successful treatment of Gorham-Stout syndrome in the spine by vertebroplasty with cement augmentation: A case report and literature review," Medicine (Baltimore), vol. 97, no. 29, p. e11555, Jul. 2018. doi: 10.1097/MD.0000000000011555.
[9] E. Grigoriou, M. B. Transtrum, S. Oishi, C. E. Johnston, and M. E. Johnson, "Tibiopelvic rotational arthroplasty for pediatric Gorham-Stout disease: A case report and surgical technique," JBJS Case Connect., vol. 14, no. 4, p. e24.00172, Oct.-Dec. 2024. doi: 10.2106/JBJS.CC.24.00172.
[10] M. Kose, S. Pekcan, D. Dogru, C. Akyuz, U. Ozcelik, Y. Ozsurekci, B. Gulhan, M. Demircin, and N. Kiper, "Gorham-Stout Syndrome with chylothorax: successful remission by interferon alpha-2b," Pediatr. Pulmonol., vol. 44, no. 6, pp. 613-615, Jun. 2009. doi: 10.1002/ppul.20849.
[11] N. Morimoto, H. Ogiwara, K. Suzuki, M. Oya, T. Hori, and T. Otsuki, "Gorham-Stout syndrome affecting the temporal bone with cerebrospinal fluid leakage," Int. J. Pediatr. Otorhinolaryngol., vol. 77, no. 9, pp. 1596-1600, Sep. 2013. doi: 10.1016/j.ijporl.2013.06.001.
[12] D. K. Kuriyama, S. C. McElligott, D. W. Glaser, and K. S. Thompson, "Treatment of Gorham-Stout disease with zoledronic acid and interferon-α: a case report and literature review," J. Pediatr. Hematol. Oncol., vol. 32, no. 8, pp. 579-584, Nov. 2010. doi: 10.1097/MPH.0b013e3181edb464.
[13] L. Cramer, S. Wei, A. C. Merrow, and J. G. Pressey, "Gorham-Stout Disease Successfully Treated With Sirolimus and Zoledronic Acid Therapy," J. Pediatr. Hematol. Oncol., vol. 38, no. 3, pp. e129-e132, Apr. 2016. doi: 10.1097/MPH.0000000000000514.
[14] T. Mao, L. Xu, Y. Yu, Z. Li, and J. Sheng, "Use of zoledronic acid combined with thalidomide in the treatment of Gorham–Stout disease," Rheumatology (Oxford), vol. 57, no. 6, pp. 1122-1124, Jun. 2018. doi: 10.1093/rheumatology/key055.
[15] D. A. Ramaroli, P. Cavarzere, M. Cheli, M. Provenzi, M. Barillari, G. Rodella, R. Gaudino, and F. Antoniazzi, "A Child with Early-Onset Gorham-Stout Disease Complicated by Chylothorax: Near-Complete Regression of Bone Lesions with Interferon and Bisphosphonate Treatment," Horm. Res. Paediatr., vol. 91, no. 6, pp. 406-410, 2019. doi: 10.1159/000495364.
[16] K. Stawarz, A. Galazka, F. Kissin, and J. Zwolinski, "A new therapeutic approach in Gorham–Stout disease: a case report," Front. Surg., vol. 10, p. 1225209, Sep. 2023. doi: 10.3389/fsurg.2023.1225209.
[17] G. M. Quille Chuisaca, M. C. Ortiz Vega, B. L. Patiño López, J. L. Nugra Sanchez, J. L. Castillo Lopez, and J. J. Ayora Muñoz, "Síndrome de Gorham Stout: Reporte de Caso y Revisión de la Literatura," iberociencias, vol. 4, no. 4, pp. 2956-2969, Dec. 2025. doi: 10.63371/ic.v4.n4.a535.
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