Sirolimus on Gorham-Stout disease. Case report.
Abstract
Background:Gorham-Stout disease (GSD) is a rare disease of unknown etiology characterized by vascular proliferation that produces destruction of bone matrix.
Case description:This case is about 43 year old woman who begins with pain in sternum, dyspnea, abdominal mass and, serous-hematic pleural effusion. Imaging tests were performed showing lesions on 6th and 10th left ribs archs. Later, a thoracotomy was performed observed absence of the end of the 6th and lung, pleural and costal biopsy was token. The histologic features described lymphatic vascular proliferation in bone tissue of chest wall. Other pathologies were excluded and in view of the findings, GSD diagnosis was made.
Treatment and outcome:treatment was initiated with sirolimus achieving remission of the disease after the first month; however, because the presence of metrorrhagia the treatment was discontinued, reappearing symptoms afterwards. For that reason the treatment was restarted getting disappearance of the symptoms again, 4 weeks later.
Clinical relevance:we present the first clinical cases of EGS with pleural effusion with response to sirolimus treatment that could be an alternative to the current therapy.
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Keywords
- Pleural effusion
- osteolysis essential
- metrorrhagia
- sirolimus
- Gorham-Stout disease
- prognosis
- rare diseases
- cell proliferation.
References
Dellinger MT, Garg N, Olsen BR. Viewpoints on vessels and vanishing bones in Gorham-Stout disease. Bone. 2014;63:47–52
Jackson JB. A boneless arm. Boston Med Surg J. 1838;18:368–369
Gorham LW, Stout AP. Massive osteolysis (acute spontaneous absorption of bone, phantom bone, disappearing bone); its relation to hemangiomatosis. J Bone Joint Surg Am. 1955;37-A:985–1004
Choma ND, Biscotti CV, Bauer TW, Mehta AC, Licata AA. Gorham's syndrome a case report and review of the literature. Am J Med. 1987;83:1151–1156
Johnson PM, McCLURE JG. Observations on massive osteolysis; a review of the literature and report of a case. Radiology. 1958;71:28–42
Moller G, Priemel M, Amling M, Werner M, Kuhlmey AS, Delling G. The Gorham-Stout syndrome (Gorham's massive osteolysis) A report of six cases with histopathological findings. J Bone Joint Surg Br. 1999;81:501–506
Tie ML, Poland GA, Rosenow 3rd EC. Chylothorax in Gorham's syndrome A common complication of a rare disease. Chest. 1994;105:208–213
Collins J. Case 92 Gorham syndrome. Radiology. 2006;238:1066–1069
Dominguez R, Washowich TL. Gorham's disease or vanishing bone disease plain film, CT, and MRI findings of two cases. Pediatr Radiol. 1994;24:316–318
Heffez L, Doku HC, Carter BL, Feeney JE. Perspectives on massive osteolysis Report of a case and review of the literature. Oral Surg Oral Med Oral Pathol. 1983;55:331–343
Ayuso-Velasco R, Lopez-Gutierrez JC. Mortalidad en pacientes con osteólisis de origen linfático. Revisión de 54 casos. An Pediatr (Barc). 2012;77:83–87
Nikolaou VS, Chytas D, Korres D, Efstathopoulos N. Vanishing bone disease (Gorham-Stout syndrome) A review of a rare entity. World J Orthop. 2014;5:694–698
Chavanis N, Chaffanjon P, Frey G, Vottero G, Brichon PY. Chylothorax complicating Gorham's disease. Ann Thorac Surg. 2001;72:937–939
Hammill AM, Wentzel M, Gupta A, Nelson S, Lucky A, Elluru R. Sirolimus for the treatment of complicated vascular anomalies in children. Pediatr Blood Cancer. 2011;57:1018–1024
Adams DM, Trenor 3rd CC, Hammill AM, Vinks AA, Patel MN, Chaudry G. Efficacy and safety of Sirolimus in the treatment of complicated vascular anomalies. Pediatrics. 2016;137:e20153257
Cramer SL, Wei S, Merrow AC, Pressey JG. Gorham-Stout Disease Successfully Treated With Sirolimus and Zoledronic Acid Therapy. J Pediatr Hematol Oncol. 2016;38:e129–e132
Nozawa A, Ozeki M, Kuze B, Asano T, Matsuoka K, Fukao T. Gorham-Stout Disease of the Skull Base With Hearing Loss Dramatic Recovery and Antiangiogenic Therapy. Pediatr Blood Cancer. 2016;63:931–934
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