Abstract
Background
Stiff skin syndrome (SSS) is a rare, non-inflammatory skin disease with a pronounced limitation on joint motion. We reported 16 Chinese pediatric patients with SSS in our center and summarized the clinical features of the disease through literature review.
Results
A retrospective study was conducted on 16 pediatric patients diagnosed with SSS at Peking Union Medical College Hospital between January 2014 and January 2024, based on clinical manifestations, laboratory tests, and skin biopsy findings. Among these cases, two were classified as segmental SSS, and 14 as widespread SSS. Additionally, a review of relevant literature published between January 2000 and January 2024 involving 138 cases of pediatric SSS was also conducted. The clinical characteristics, treatment, and prognosis of these 154 patients were summarized. The age of onset in patients was 2.0(0.5, 4.8) years, with an average age at diagnosis of 9.0(5.0, 13.0) years. Thigh skin sclerosis (81, 52.6%) was the most common manifestation observed in these patients. Joint restriction was present in 55(35.7%) patients. Patients with joint contractures had longer diagnostic delays compared to those without joint contractures. The treatment primarily involved physical therapy, while some patients received medications such as mycophenolate mofetil (MMF), losartan, and secukinumab. However, the prognosis varied among patients.
Conclusion
The diagnosis of SSS should involve a thorough investigation of family history, detailed physical examination, comprehensive pathological assessment, potential genetic testing, and careful exclusion of other scleroderma-like diseases. Currently, there are various available treatment options targeting the TGF-β or IL-17 pathways, such as MMF, losartan, and secukinumab, which shows promise in slowing disease progression. Nevertheless, these treatments are incapable of reversing established skin lesions, and further trials are imperative to assess their therapeutic efficacy in SSS.