Background Systemic Sclerosis (SSc) is a connective tissue disease characterized by skin fibrosis and visceral organ involvement. Localized Scleroderma (LoS), also known as morphea, is a fibrosing condition limited to the skin, subcutaneous tissue, underlying bone, and rarely central nervous system if present on face and head. SSc and LoS may share some aspects, such as histopathological findings, presence of autoantibodies and systemic symptoms, especially Raynaud phenomenon (RP). In this perspective they may represent two ends of a spectrum of disease.
Objectives The aim of our study is to evaluate the evolution from LoS to SSc in our case series of SSc patients.
Methods We retrospectively investigated 330 patients fulfilling the SSc-ACR/EULAR criteria referred to our University-based Rheumatology Unit. The occurrence of LoS preceding the SSc diagnosis was evaluated for each patient on the basis of medical records; clinical, laboratory, and instrumental features were analyzed, from the presenting symptoms at the disease onset to the first visit and during the follow-up, with particular attention to very early cutaneous manifestations.
Results Five SSc patients (1.5% of our SSc series) had a clinical history of LoS prior to SSc diagnosis. All were women with mean age at time of LoS onset of 39±16.1SD years and time interval between LoS and SSc diagnosis of 19.2±16SD months. Skin biopsy was performed in 4/5 patients showing nonspecific inflammatory infiltrate, collagen fiber deposition and dermis sclerosis. In all patients RP was the first extra-dermal symptom, preceding LoS in 2/5 patients. Cutaneous involvement was represented by patches of skin sclerosis localized in limbs, trunk and face; while scleroderma was classified as cutaneous limited SSc in 4/5 patients and sine scleroderma in one. Following the SSc onset 2/5 patients had a history of digital ulcers, 1/5 esophagopathy, 1/5 interstitial lung disease; while capillaroscopy evidenced a SSc pattern in 4/5 patients. ANA were detected in all patients with anti-ENA positivity in 3/5 (1 ACA, 1 anti-Scl70, 1 anti-U1RNP); the presence of autoantibodies was observed in 3/5 individuals before SSc onset. None referred exposure to toxics or cigarettes smoke, while autoimmune thyropathy was the most frequent comorbidity. No local treatments had been employed for LoS but only low dosage of systemic steroids.
Conclusions LoS and SSc are two distinct clinical entities that may share some clinical features; however, LoS is characterized by the absence of sclerodactyly, RP, digital ulcers, and typical SSc capillaroscopic changes; while possible internal organs involvement is much less frequently observed and the transition to SSc is exceptional and reported in only pediatric population. At our knowledge, this is the first observation of well-documented evolution from LoS to SSc in adult population as shown by updated review of the literature. The presence of RP and ANA positivity observed before the SSc onset can be considered as red flags of LoS evolution towards SSc, as reported in literature in pediatric population. SSc following LoS seems to be characterized by higher prevalence of vasculopatic symptoms compared to fibrotic complications. Finally, a careful clinical and laboratory monitoring of patients with LoS is recommendable to early identify the possible evolution to overt SSc.
Disclosure of Interest None declared