Resende Cristina Isabel Pinho, Gomes Joana, Duarte Maria da Luz, Brito Celeste
Department of Dermatology and Venereology, Hospital de Braga, Braga, Portugal.
BMJ Case Rep. 2013 Aug 29;2013:bcr2013010382. doi: 10.1136/bcr-2013-010382.
Pilomatricoma is a relatively common benign skin neoplasm originating from the hair follicle matrix cells. β-Catenin is a subunit of the cadherin protein complex. It acts as an intracellular signal transducer that influences cell differentiation and proliferation. This protein was recently involved in the formation of hair follicle-related tumours, including pilomatricomas. Tuberous sclerosis (TS) is an inherited neurocutaneous disease, which is characterised by pleomorphic features involving many organs, hamartomas in multiple organ systems and by the fact that it is usually diagnosed early in life. We reported a case of a Caucasian patient with TS and a giant pilomatricoma, both diagnosed in the adult life.
毛母质瘤是一种相对常见的起源于毛囊基质细胞的良性皮肤肿瘤。β-连环蛋白是钙黏蛋白蛋白复合体的一个亚基。它作为一种细胞内信号转导分子，影响细胞分化和增殖。这种蛋白最近与包括毛母质瘤在内的毛囊相关肿瘤的形成有关。结节性硬化症（TS）是一种遗传性神经皮肤疾病，其特征是涉及多个器官的多形性表现、多器官系统的错构瘤，且通常在生命早期被诊断出来。我们报告了一例成年期被诊断出患有结节性硬化症和巨大毛母质瘤的白种人患者。
