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Abstract：
Aim of the report: Brooke-Spiegler syndrome (BSS) is a rare autosomal dominant disease characterized by the growth of cylindromas, spiradenomas, trichoepitheliomas, or their combination. These neoplasms usually begin in the second decade and progressively increase in number and size over the years. Diagnosis necessitates consideration of family history, clinical examination, histological findings, and genetic analysis. The aim of this paper is to explore the clinical overlap between Brooke-Spiegler syndrome (BSS) and neurofibromatosis type 1 (NF1). We aim to highlight the challenges associated with their differential diagnosis and emphasize the lack of standardized diagnostic criteria and treatment approaches. Case presentation: Hereby, we introduce the case of a 28-year-old male referred for suspicion of neurofibromatosis type 1 (NF1) who initially declined the recommended surgical excision for a scalp mass. After four years, he returned with larger masses of the scalp, and underwent excision of multiple masses, revealing cylindromas, spiradenomas, and spiradenocylindromas. Family history reported similar tumors in his father, who was also diagnosed with NF1 for the presence of multiple subcutaneous lesions on the scalp. Clinical overlap led to a genetic consultation, but testing for CYLD mutations yielded no significant variations. Despite this, the strong family history and consistent findings led to a revised diagnosis of Brooke-Spiegler syndrome, correcting the initial misdiagnosis of NF1 syndrome. Conclusions: Thanks to the evolving landscape of BSS research over the past two decades, its molecular underpinnings, clinical presentation, and histopathological features are now clearer. However, a thorough family history assessment is mandatory when BSS is suspected. It is our belief that a multidisciplinary approach and cooperation between specialists are essential when dealing with BSS. By sharing this case, we hope to underscore the importance of considering BSS as a differential diagnosis, especially in cases with atypical presentations or overlapping features with other syndromes like NF1.
摘要：
报告目的：Brooke-Spiegler综合征（BSS）是一种罕见的常染色体显性疾病，其特征是圆柱瘤的生长，螺旋腺瘤，毛发上皮瘤,或他们的组合。这些肿瘤通常在第二个十年开始，并且随着时间的推移，数量和大小逐渐增加。诊断需要考虑家族史，临床检查,组织学发现，和遗传分析。本文旨在探讨Brooke-Spiegler综合征（BSS）和1型神经纤维瘤病（NF1）之间的临床重叠。我们旨在强调与鉴别诊断相关的挑战，并强调缺乏标准化的诊断标准和治疗方法。案例介绍：特此，我们介绍了一例因怀疑1型神经纤维瘤病(NF1)而转诊的28岁男性,他最初拒绝推荐的头皮肿块手术切除.四年后,他带着更大的头皮回来，切除了多个肿块，露出的圆柱瘤，螺旋腺瘤，和螺旋腺细胞瘤。家族史报告他父亲有类似的肿瘤，他还因头皮上存在多个皮下病变而被诊断为NF1。临床重叠导致遗传咨询，但检测CYLD突变并无显著变异.尽管如此,强烈的家族史和一致的发现导致了布鲁克-斯皮格勒综合征的修订诊断，纠正NF1综合征的初步误诊。结论：由于过去二十年来BSS研究的不断发展，它的分子基础，临床表现,组织病理学特征现在更清晰了。然而,当怀疑有BSS时,必须进行全面的家族史评估.我们认为，在处理BSS时，多学科方法和专家之间的合作至关重要。通过分享这个案例，我们希望强调将BSS视为鉴别诊断的重要性，特别是在非典型表现或与NF1等其他综合征重叠的情况下。
