Li Ying, Wang Zhipeng, Yang Yanhua, Xu Xiaoyan
Department of Pathology, Sanya Central Hospital (The Third People's Hospital of Hainan Province), Sanya, 572000, People's Republic of China.
Department of Pathology, Qingdao Municipal Hospital, Qingdao, 266071, People's Republic of China.
Clin Cosmet Investig Dermatol. 2024 Dec 3;17:2747-2753. doi: 10.2147/CCID.S488272. eCollection 2024.
Tuberous sclerosis complex (TSC) is a rare autosomal-dominant disorder involving multiple organs including skin, brain, heart, lung, kidney and liver. It usually occurs as early as birth or even in utero, with rare cases diagnosed in their adulthood. Here, we present a rare adult case of TSC presenting as periungual fibromas (PF).
A 67-year-old gentleman showed recurrence of multiple periungual polypoid tumors on all the toes of the right foot when presenting to our department. On physical examination, there were polypoid and verrucous protrusions on the nail fold side of the proximal toe. Computed tomography scan indicated multiple subependymal nodules and renal cyst. Pathological analysis for the polypoid tissues showed fibroepithelial-like lesions, epidermal hyperkeratosis, and acanthosis. Therefore, the patient was diagnosed with TSC presenting as PF.
We reported a rare case of TSC diagnosed in the adulthood based on the presence of PF, subependymal nodules, and renal cyst.
结节性硬化症（TSC）是一种罕见的常染色体显性疾病，累及多个器官，包括皮肤、脑、心脏、肺、肾和肝脏。它通常在出生时甚至在子宫内就已出现，成年期诊断出的病例较为罕见。在此，我们报告一例罕见的成年TSC病例，表现为甲周纤维瘤（PF）。
一名67岁男性患者前来我科就诊时，右脚所有脚趾均出现多个甲周息肉样肿瘤复发。体格检查发现，近端趾甲皱襞侧有息肉样和疣状突起。计算机断层扫描显示多个室管膜下结节和肾囊肿。对息肉样组织进行病理分析，结果显示为纤维上皮样病变、表皮角化过度和棘层肥厚。因此，该患者被诊断为以PF表现的TSC。
我们报告了一例罕见的成年期诊断的TSC病例，其依据为存在PF、室管膜下结节和肾囊肿。
