New clinical classification of stiff skin syndrome

• Published in: Archives of dermatological research 2024-06, Vol.316 (6), p.333, Article 333
• Main Authors: Zhao, Qiang, Chu, Zhaowei, Li, Li, Feng, Cheng, Zhou, Hongmei, Hu, Jiahui, Zhao, Lihong, Che, Delu, Zhang, Xinyue, Peng, Bin, Han, Yichen, Geng, Songmei
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Aged; Child; Child, Preschool; Classification; Collagen - metabolism; Contracture; Dermatology; Dermis; Female; Humans; Male; Medicine; Medicine & Public Health; Middle Aged; Original Paper; Phenotypes; Prognosis; Retrospective Studies; Severity of Illness Index; Skin - pathology; Skin diseases; Skin Diseases, Genetic - classification; Skin Diseases, Genetic - diagnosis; Skin Diseases, Genetic - pathology; Young Adult
• ISSN: 1432-069X; 0340-3696; 1432-069X
• DOI: 10.1007/s00403-024-03090-1

Background Stiff skin syndrome (SSS) is a rare disease characterized by thickened, indurated skin and limited joint movement. Multiple diverse phenotypes have been reported, and the correlation of severity with the clinical heterogeneity and histopathological findings of SSS needs to be refined. Objective To define subtypes based on clinical features and predict the prognosis of a new SSS classification. Methods Eighty-three patients with SSS were retrospectively reviewed for clinicopathological manifestations and routine laboratory workup, including 59 cases obtained from a PubMed search between 1971 and 2022 and 24 cases diagnosed in our department between 2003 and 2022. Results Among the 83 patients, 27.7, 41, and 31.3% had classic widespread, generalized segmental, and localized SSS, respectively. Joint immobility was present in 100, 71, and 20% of classic, generalized, and localized cases, respectively. Histopathologic findings were common among the 3 groups, and based on that, we further found a difference in the distribution of proliferative collagen. 54.5% of classic and 50% of generalized cases occurred throughout the dermis or the subcutis, whereas 76% of localized cases were mainly involved in the reticular dermis or subcutis. In patients with incipient localized SSS, 42% (21/50) developed generalized SSS, and only 6% (3/50) progressed to classic SSS, whereas more than half of the incipient generalized SSS cases (60.6%, 20/33) developed classic SSS. Limitations This retrospective study was limited to previously published cases with limited data. Conclusions We propose a distinct clinical classification characterized by lesion distribution, including classic widespread, generalized segmental, and localized SSS, associated with disease severity and prognosis.