Abstract：
BACKGROUND: Encephaloceles are neural tube defects characterized by herniation of meninges, neural tissue and cerebrospinal fluid, while atretic cephaloceles denote a rudimentary connection to the intracranial space with absence of herniated neural tissue and represent an infrequent dermatopathologic diagnosis. Limited reports of these entities confound the challenge in their histopathologic distinction. Accurate classification is important given associated anomalies and neurologic manifestations that impact prognosis.
METHODS: We describe the clinicopathological and immunohistochemical [glial fibrillary acidic protein (GFAP), S100, epithelial membrane antigen (EMA), and somatostatin receptor subtype 2A (SSTR2A)] features in a retrospective series encountered at a single institution between 1994 and 2020.
RESULTS: We identified 13 cases classified as atretic cephalocele (n = 11) and encephalocele (n = 2). Hamartomatous changes and multinucleated cells were unique to atretic cephaloceles while myxoid areas were unique to encephaloceles. At least focal staining for SSTRA was seen in all atretic cephaloceles with the majority (87.5%) staining for EMA; negative staining for GFAP and S100 confirmed absence of neural tissue. Encephaloceles were GFAP and S100 positive, and negative for SSTR2 and EMA. Atretic cephaloceles had a favorable prognosis compared to encephaloceles, with severe morbidity present in both encephalocele cases.
CONCLUSIONS: Our study raises awareness of atretic cephalocele and encephalocele among dermatopathologists and reveals a mutually exclusive immunophenotype that facilitates their distinction for prognostication and management.
METHODS: We describe the clinicopathological and immunohistochemical [glial fibrillary acidic protein (GFAP), S100, epithelial membrane antigen (EMA), and somatostatin receptor subtype 2A (SSTR2A)] features in a retrospective series encountered at a single institution between 1994 and 2020.
RESULTS: We identified 13 cases classified as atretic cephalocele (n = 11) and encephalocele (n = 2). Hamartomatous changes and multinucleated cells were unique to atretic cephaloceles while myxoid areas were unique to encephaloceles. At least focal staining for SSTRA was seen in all atretic cephaloceles with the majority (87.5%) staining for EMA; negative staining for GFAP and S100 confirmed absence of neural tissue. Encephaloceles were GFAP and S100 positive, and negative for SSTR2 and EMA. Atretic cephaloceles had a favorable prognosis compared to encephaloceles, with severe morbidity present in both encephalocele cases.
CONCLUSIONS: Our study raises awareness of atretic cephalocele and encephalocele among dermatopathologists and reveals a mutually exclusive immunophenotype that facilitates their distinction for prognostication and management.
摘要：
背景：脑囊肿是以脑膜突出为特征的神经管缺陷，神经组织和脑脊液，而闭锁性头积表示与颅内间隙的基本连接，没有神经组织的疝，并且代表很少见的皮肤病理学诊断。这些实体的有限报道混淆了其组织病理学区别的挑战。考虑到影响预后的相关异常和神经系统表现，准确的分类很重要。
方法：我们描述了临床病理和免疫组织化学（GFAP，S100,EMA,和SSTR2)在1994-2020年期间在单个机构遇到的回顾性系列中的特征。
结果：我们确定了13例分类为闭锁性脑膨出（n=11）和脑膨出（n=2）。错构瘤的变化和多核细胞是闭锁性头颅所特有的，而粘液样区域是脑膨出所特有的。在所有闭锁性头颅中至少看到SSTRA的局灶性染色，EMA染色大部分（87.5％）；GFAP和S100的阴性染色证实不存在神经组织。首部GFAP和S100阳性,SSTR2和EMA为阴性。与脑囊肿相比，闭锁头囊肿具有良好的预后，在两个脑膨出病例中都存在严重的发病率。
结论：我们的研究提高了皮肤病理学家对闭锁性脑膨出和脑膨出的认识，并揭示了一种相互排斥的免疫表型，有助于他们在预后和管理方面的区分。本文受版权保护。保留所有权利。
方法：我们描述了临床病理和免疫组织化学（GFAP，S100,EMA,和SSTR2)在1994-2020年期间在单个机构遇到的回顾性系列中的特征。
结果：我们确定了13例分类为闭锁性脑膨出（n=11）和脑膨出（n=2）。错构瘤的变化和多核细胞是闭锁性头颅所特有的，而粘液样区域是脑膨出所特有的。在所有闭锁性头颅中至少看到SSTRA的局灶性染色，EMA染色大部分（87.5％）；GFAP和S100的阴性染色证实不存在神经组织。首部GFAP和S100阳性,SSTR2和EMA为阴性。与脑囊肿相比，闭锁头囊肿具有良好的预后，在两个脑膨出病例中都存在严重的发病率。
结论：我们的研究提高了皮肤病理学家对闭锁性脑膨出和脑膨出的认识，并揭示了一种相互排斥的免疫表型，有助于他们在预后和管理方面的区分。本文受版权保护。保留所有权利。
