Ohla Victoria, Bayoumi Ahmed B, Hefty Markus, Anderson Matthew, Kasper Ekkehard M
Department of Neurochirurgie, Universitätsklinikum Essen, Hufelandstraße 55, 45147, Essen, Germany.
Division of Neurosurgery, Beth Israel Deaconess Medical Center, Harvard Medical School, 110 Francis Street, LMOB Suite 3B, Boston, MA, 02215, USA.
BMC Surg. 2015 Mar 11;15:24. doi: 10.1186/s12893-015-0014-4.
Gorham's disease is a rare osteolytic disorder characterized by progressive resorption of bone and replacement of osseous matrix by a proliferative non-neoplastic vascular or lymphatic tissue. A standardized treatment protocol has not yet been defined due to the unpredictable natural history of the disease and variable clinical presentations. No single treatment has proven to be superior in arresting the course of the disease. Trials have included surgery, radiation and medical therapies using drugs such as calcium salts, vitamin D supplements and hormones. We report on our advantageous experience in the management of this osteolyic disorder in a case when it affected only the skull vault. A brief review of pertinent literature about Gorham's disease with skull involvement is provided.
A 25-year-old Caucasian male presented with a skull depression over the left fronto-temporal region. He noticed progressive enlargement of the skull defect associated with local pain and mild headache. Physical examination revealed a tender palpable depression of the fronto-temporal convexity. Conventional X-ray of the skull showed widespread loss of bone substance. Subsequent CT scans showed features of patchy erosions indicative of an underlying osteolysis. MRI also revealed marginal enhancement at the site of the defect. The patient was in need of a pathological diagnosis as well as complex reconstruction of the afflicted area. A density graded CT scan was done to determine the variable degrees of osteolysis and a custom made allograft was designed for cranioplasty preoperatively to allow for a single step excisional craniectomy with synchronous skull repair. Gorham's disease was diagnosed based on histopathological examination. No neurological deficit or wound complications were reported postoperatively. Over a two-year follow up period, the patient had no evidence of local recurrence or other systemic involvement.
A single step excisional craniectomy and cranioplasty can be an effective treatment for patients with Gorham's disease affecting the skull vault only. Preoperative planning by a density graded CT aids to design a synthetic bone flap and is beneficial in skull reconstruction. Systemic involvement is variable in this patient's population.
戈勒姆病是一种罕见的溶骨性疾病，其特征是骨组织进行性吸收，骨基质被增生性非肿瘤性血管或淋巴组织替代。由于该疾病不可预测的自然病程和多样的临床表现，尚未确定标准化的治疗方案。尚无单一治疗方法被证明在阻止疾病进程方面更具优势。试验包括手术、放疗以及使用钙盐、维生素D补充剂和激素等药物的药物治疗。我们报告了在一例仅累及颅盖骨的溶骨性疾病治疗中的有益经验。并对有关戈勒姆病累及颅骨的相关文献进行简要综述。
一名25岁的白种男性，左额颞部出现颅骨凹陷。他注意到颅骨缺损逐渐扩大，并伴有局部疼痛和轻度头痛。体格检查发现额颞部凸面有压痛性可触及凹陷。颅骨常规X线检查显示广泛骨质丢失。随后的CT扫描显示有斑片状侵蚀特征，提示存在潜在的骨质溶解。MRI也显示缺损部位边缘强化。患者需要进行病理诊断以及对患区进行复杂重建。进行了密度分级CT扫描以确定骨质溶解的不同程度，并在术前设计定制的同种异体骨用于颅骨成形术，以便进行单步切除性颅骨切除术并同步进行颅骨修复。根据组织病理学检查诊断为戈勒姆病。术后未报告神经功能缺损或伤口并发症。在两年的随访期内，患者无局部复发或其他全身受累的证据。
单步切除性颅骨切除术和颅骨成形术对于仅累及颅盖骨的戈勒姆病患者可能是一种有效的治疗方法。通过密度分级CT进行术前规划有助于设计合成骨瓣，对颅骨重建有益。该患者群体中全身受累情况各不相同。
