Jih Debra M, Shapiro Michael, James William D, Levin Marc, Gelfand Joel, Williams Patrick T, Oakey Rebecca J, Fakharzadeh Steven, Seykora John T
Advanced Dermatology Associates, Allentown, Pennsylvania, USA.
Am J Dermatopathol. 2003 Apr;25(2):130-7. doi: 10.1097/00000372-200304000-00006.
Basaloid follicular hamartoma (BFH) is a rare cutaneous lesion associated with the acquisition of small papules that remain stable for many years. Basaloid follicular hamartoma lesions can present sporadically or as part of an inherited syndrome. Occasionally, biopsies of BFH lesions are interpreted as basal cell carcinoma (BCC), which necessitates complete removal of the lesion. In this report, we characterize a case of a familial BFH syndrome and discuss the clinical, histologic, and molecular features of BFH lesions that help to distinguish it from BCC. The BFH lesions in our patients remained stable for many years. Histologically, BFH lesions exhibit fewer mitoses and decreased single cell necrosis when compared with BCC. Immunohistochemical staining for the proliferation markers proliferating cell nuclear antigen and Ki-67 demonstrated less staining in BFH than in BCC. In addition, levels of PTCH (patched) mRNA were increased relative to unremarkable epidermis in familial BFH lesions but to a lesser degree and in a different pattern than that seen in BCC. In summary, familial BFH can be distinguished from BCC based on clinical, histologic, and molecular features and is associated with deregulation of the PTCH pathway. Basaloid follicular hamartoma may represent an indolent lesion within the spectrum of basaloid epithelial neoplasms associated with deregulation of the PTCH signaling pathway. We discuss this case in parallel with a growing body of literature that supports the nosologic designation of BFH.
基底样毛囊错构瘤（BFH）是一种罕见的皮肤病变，表现为出现许多年都保持稳定的小丘疹。基底样毛囊错构瘤病变可散发出现，或作为遗传性综合征的一部分。偶尔，BFH病变的活检结果会被误诊为基底细胞癌（BCC），这就需要将病变完整切除。在本报告中，我们描述了一例家族性BFH综合征病例，并讨论了BFH病变有助于将其与BCC区分开来的临床、组织学和分子特征。我们患者的BFH病变多年来一直保持稳定。组织学上，与BCC相比，BFH病变的有丝分裂较少，单细胞坏死减少。增殖标志物增殖细胞核抗原和Ki-67的免疫组化染色显示，BFH中的染色比BCC少。此外，与正常表皮相比，家族性BFH病变中PTCH（patched）mRNA水平升高，但程度较轻，且模式与BCC不同。总之，家族性BFH可根据临床、组织学和分子特征与BCC区分开来，且与PTCH通路失调有关。基底样毛囊错构瘤可能代表与PTCH信号通路失调相关的基底样上皮肿瘤谱系中的一种惰性病变。我们结合越来越多支持BFH疾病命名的文献来讨论该病例。
