Division of Dermatology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Division of Radiology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Pediatr Dermatol. 2024 Jan-Feb;41(1):16-22. doi: 10.1111/pde.15459. Epub 2023 Oct 20.
BACKGROUND/OBJECTIVE: Stiff skin syndrome (SSS) is a rare disorder characterized by "rock hard" indurated skin affecting different body parts. The localized variant poses a diagnostic challenge, as it is frequently mistaken for other inflammatory connective tissue disorders. The aim of this study is to provide insightful clinical, radiologic and diagnostic data that might prove useful for the evaluation, management and treatment of pediatric patients with segmental SS.
This single-center cohort study included patients ≤18 years diagnosed with localized SSS from 1988 to 2021 in a quaternary pediatric healthcare center in Toronto, Canada. Data included demographics, clinical, histopathologic and radiologic features, treatments, and clinical course. Data were summarized with descriptive statistics (mean, standard deviation, medians, interquartile ranges [IQRs]) and frequencies.
A total of 11 patients were included. The sclerotic changes were measured clinically and radiologically, by a total of 16 imaging studies: 13 magnetic resonance imaging (MRI) and 3 ultrasound. MRI readings showed abnormal high signal intensity of the affected tissue correlating with the anatomical site of involvement in all cases, specifically, in the shoulder/pelvic girdle with limb extension. Shear wave ultrasound elastography (SWE) demonstrated higher values within the dermis compared to the control site.
The presence of segmental sclerotic changes that affects the pelvic/shoulder girdle with extension to the extremities, in the absence of inflammation on biopsy and abnormal signaling intensity on imaging is suggestive of SSS. Skin SWE is a feasible, noninvasive, and objective instrument to evaluate and monitor sclerotic changes overtime, it could be potentially extrapolated to other pediatric skin sclerotic conditions.
背景/目的：硬皮病综合征（SSS）是一种罕见疾病，其特征为影响身体不同部位的“坚硬如石”的硬化皮肤。局限性变体构成了诊断挑战，因为它经常被误诊为其他炎症性结缔组织疾病。本研究旨在提供有见地的临床、放射学和诊断数据，这些数据可能有助于评估、管理和治疗儿科节段性 SSS 患者。
这项单中心队列研究纳入了 1988 年至 2021 年期间在加拿大多伦多的一家四级儿科医疗机构中被诊断为局限性 SSS 的≤18 岁患者。数据包括人口统计学、临床、组织病理学和放射学特征、治疗和临床过程。数据通过描述性统计（平均值、标准差、中位数、四分位距[IQR]）和频率进行总结。
共纳入 11 例患者。通过总共 16 项影像学研究（13 项磁共振成像[MRI]和 3 项超声）对临床和放射学上的硬化改变进行了测量。MRI 读数显示受影响组织的异常高信号强度与受累的解剖部位相关，所有病例均在肩部/骨盆带伴肢体伸展时出现。剪切波超声弹性成像（SWE）显示真皮内的数值高于对照部位。
在活检无炎症且影像学上信号异常的情况下，出现影响骨盆/肩部带并向四肢延伸的节段性硬化改变提示 SSS。皮肤 SWE 是一种可行的、非侵入性的、客观的评估和监测随时间推移的硬化改变的工具，它可能可以推广到其他儿科皮肤硬化疾病。
