Linear morphea with systemic involvement mimicking connective tissue disease: a diagnostic challenge

Introduction & Objectives: Morphoea linearis is the predominant subtype of localised scleroderma, presenting as an inflammatory connective tissue pathology with cutaneous sclerosis and involvement of underlying tissues. Linear scleroderma might extend to dermis, hypodermis, muscle and respective bone. The treatment course is gradual: originally treated with topical corticosteroids and phototherapy, if unresponsive, treatment continues with immunosuppressive medication. This case report aims to outline clinically atypical case of linear scleroderma with probable medium-sized arteriole vasculitis and pulmonary changes, primarily suggesting systemic involvement and posing diagnostic challenges. This case report also highlights a distinct treatment strategy, initially beginning with immunosuppressants, followed by a planned reconstructive surgery to address facial atrophy. Materials & Methods: Case report. Results: The 37-year-old female presented with stiffening and hollowing of the skin on the right cheek, dermatoscopically thinning of hypodermis is noted. Patient has been consulted by rheumatologist, who concluded no systemic involvement, recording only episodic headaches and GERD. Excisional biopsy was performed, concluding non-specific lesions and probable medium-sized arteriole vasculitis in hypodermis. Laboratory findings revealed borderline anti-RP11, and ANA 1:100 yielded fine-speckled nuclear fluorescence with 2+ intensity, blurring the line between purely localised disease and systemic autoimmune involvement. Serological tests also demonstrated negativity for HIV, p24 antigen and Lyme disease. Chest X-ray pointed out significant perivascular changes, again suggesting systemic impact. Vascular changes aided in differentiating linear scleroderma from Hortons’ disease and deep scleroderma, establishing the diagnosis. Distinctly tailored treatment strategy was then adopted, excluding therapy with corticosteroids: initial medication with immunosuppresants aimed at mitigation of the inflammatory process, followed by planned esthetic reconstruction with adipose tissue autotransplantation. Prior to surgical intervention, further evaluation with angio-MRI, chest and head CT as well as additional biopsies with DIF were recommended. Conclusion:This case report highlights the critical importance of a comprehensive, multidisciplinary approach in evaluating localized scleroderma with atypical vascular and systemic features. Careful clinical and histological assessment is essential for establishing an accurate diagnosis and developing an individualized treatment plan.