Division de Cirugia Maxilofacial, Hospital Universitario de Puebla, Benemerita Universidad de Puebla, Puebla, Puebla, Mexico.
Programa Internacional de Medicina, Universidad Autónoma de Guadalajara, Guadalajara, Jalisco, Mexico.
Clin Rev Allergy Immunol. 2017 Feb;52(1):125-132. doi: 10.1007/s12016-016-8594-z.
Gorham-Stout disease (GSD) is a rare condition of osteolysis with excessive lymphangiogenesis within bone tissue. The etiology of this condition remains unknown but seems to affect mainly children and young adults of both genders all over the world. Unfortunately, there is no standardized method for diagnosis; however, histopathology remains as the gold standard. This condition is often misdiagnosed due to its varying clinical presentations from case-to-case. Here, we report the case of an 8-year-old girl who presented with chronic mandibular pain during mastication and received multiple antibiotic treatment due to infectious origin suspicion. After integrating information from clinical manifestations, radiographic, laboratory, and histopathology information, she was diagnosed with GSD. Additionally, due to the lack of literature with respect to insights into biological mechanisms and standardized treatment for this condition, we underwent a literature revision to provide information related to activation of cells from the immune system, such as macrophages, T-cells, and dendritic cells, and their contribution to the lymphangiogenesis, angiogenesis, and osteoclastogenic process in GSD. It is important to consider these mechanisms in patients with GSD, especially since new studies performed in earlier stages are required to confirm their use as novel diagnostic tools and find new possibilities for treatment.
戈勒姆-斯托特病（GSD）是一种罕见的骨质溶解症，伴有骨骼组织内淋巴管生成过度。这种疾病的病因仍然未知，但似乎主要影响世界各地的儿童和年轻男女。不幸的是，目前还没有标准化的诊断方法；然而，组织病理学仍然是金标准。由于其临床表现从个案到个案的差异，这种疾病经常被误诊。在这里，我们报告了一例 8 岁女孩的病例，她在咀嚼时出现慢性下颌疼痛，并因疑似感染源而接受了多次抗生素治疗。在整合了临床表现、影像学、实验室和组织病理学信息后，她被诊断为 GSD。此外，由于缺乏关于这种疾病的生物学机制和标准化治疗的文献，我们进行了文献复习，提供了与免疫系统细胞（如巨噬细胞、T 细胞和树突状细胞）激活及其对 GSD 中的淋巴管生成、血管生成和破骨细胞生成过程的贡献相关的信息。在 GSD 患者中考虑这些机制很重要，特别是因为需要在早期阶段进行新的研究来确认它们作为新的诊断工具的用途，并找到新的治疗可能性。
