Tuberous Sclerosis Complex Presenting as Periungual Fibromas: A Rare Case Report and Literature Review.

IF 1.9 4区医学 Q3 DERMATOLOGY

Clinical, Cosmetic and Investigational Dermatology Pub Date : 2024-12-03 eCollection Date: 2024-01-01 DOI:10.2147/CCID.S488272

Ying Li, Zhipeng Wang, Yanhua Yang, Xiaoyan Xu

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引用次数: 0

Abstract

Background: 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).

Case presentation: 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.

Conclusion: We reported a rare case of TSC diagnosed in the adulthood based on the presence of PF, subependymal nodules, and renal cyst.

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结节性硬化症以趾周纤维瘤表现：一例罕见病例报告及文献复习。

背景：结节性硬化症（TSC）是一种罕见的常染色体显性疾病，累及多器官，包括皮肤、脑、心、肺、肾和肝。它通常发生在出生甚至子宫内，极少数病例在成年后被诊断出来。在此，我们报告一例罕见的成人TSC，表现为骨趾周围纤维瘤（PF）。病例介绍：一位67岁的男士在我科就诊时，发现右脚所有脚趾的足趾周围多发息肉样肿瘤复发。体格检查：趾近端甲襞侧可见息肉样及疣状突起。计算机断层扫描显示室管膜下多发结节及肾囊肿。息肉样组织的病理分析显示纤维上皮样病变，表皮角化过度和棘层增生。结论：我们报告了一例罕见的TSC在成年期诊断为PF、室管膜下结节和肾囊肿。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical, Cosmetic and Investigational Dermatology Medicine-Dermatology

CiteScore

2.80

自引率

4.30%

发文量

353

审稿时长

16 weeks

期刊介绍： Clinical, Cosmetic and Investigational Dermatology is an international, peer-reviewed, open access journal that focuses on the latest clinical and experimental research in all aspects of skin disease and cosmetic interventions. Normal and pathological processes in skin development and aging, their modification and treatment, as well as basic research into histology of dermal and dermal structures that provide clinical insights and potential treatment options are key topics for the journal. Patient satisfaction, preference, quality of life, compliance, persistence and their role in developing new management options to optimize outcomes for target conditions constitute major areas of interest. The journal is characterized by the rapid reporting of clinical studies, reviews and original research in skin research and skin care. All areas of dermatology will be covered; contributions will be welcomed from all clinicians and basic science researchers globally.