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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. [ABSTRACT FROM AUTHOR]

Stiff skin syndrome (SSS) is a rare, scleroderma‐like condition that is commonly characterised by stony hard skin and limited joint mobility, in the absence of visceral involvement or immunologic abnormalities. Depending on the distribution of the disease, this disorder can be further categorised into classic (widespread) SSS or its newly described segmental variant. Additional features of this syndrome may include hypertrichosis, lipodystrophy, dysmetria and scoliosis. In this report, we present the case of a patient with segmental SSS and we briefly review the current literature about the topic. [ABSTRACT FROM AUTHOR]

Fibrous skin, skin thickening, congenital fascial dystrophy, joint contracture, stiff skin syndrome The stiff skin syndrome: case series, differential diagnosis of the stiff skin phenotype, and review of the literature. Keywords: congenital fascial dystrophy; fibrous skin; joint contracture; skin thickening; stiff skin syndrome EN congenital fascial dystrophy fibrous skin joint contracture skin thickening stiff skin syndrome 683 685 3 07/07/21 20210501 NES 210501 CASE PRESENTATION A 5-year-old boy presented with generalized thickening of the skin first noted at 2 months of age. [Extracted from the article]

Background: Stiff skin syndrome (SSS) is a noninflammatory, fibrosing condition of the skin, often affecting the limb girdles.Objective: We present 4 new patients with SSS with largely unilateral, segmental distribution. To date, reported cases of SSS have been grouped based on generally accepted clinical and histopathologic findings. The purpose of this study was to analyze differences in clinical and histopathologic findings between previously reported SSS cases.Methods: This is a retrospective review of 4 new cases and 48 previously published cases of SSS obtained from PubMed search.Results: Of 52 total cases, 18 (35%) were segmentally distributed and 34 (65%) were widespread. The average age of onset was 4.1 years versus 1.6 years for segmental versus widespread SSS, respectively. Limitation in joint mobility affected 44% of patients with segmental SSS and 97% of patients with widespread SSS. Histopathologic findings were common between the 2 groups.Limitations: This was a retrospective study of previously published cases limited by the completeness and accuracy of the reviewed cases.Conclusions: We propose a distinct clinical entity, segmental SSS, characterized by a segmental distribution, later age of onset, and less severe functional limitation. Both segmental SSS and widespread SSS share common diagnostic histopathologic features. [ABSTRACT FROM AUTHOR]