Author(s): Mo’men Shabib, Mohammad Al-Sharab, Raya Al-Selawi, Moawiah Sha’ban and Aya Tawaha

Abstract: Background: Mixed connective tissue disease (MCTD) is an uncommon autoimmune disease with overlapping clinical manifestations of systemic lupus erythematosus (SLE), systemic sclerosis, and dermatomyositis/polymyositis. It is defined as the occurrence of coexistent high-titer anti-U1 ribonucleoprotein (U1-RNP) antibodies and the triad of skin, muscle/bone, and systemic symptoms. While more classically diagnosed in adults, children with MCTD present a distinct diagnostic dilemma and management. Cutaneous features of Gottron's papules, heliotrope rash, and calcinosis cutis are imperative dermatological signs but could be challenging to identify in those with darker skin color. Case Presentation: We herein report a 14-year-old Jordanian boy from Amman, hospitalized in Queen Rania Al-Abdullah Hospital for Children with three hard, non-mobile nodules in the upper outer breast area. On examination, he had masklike facies, mottled skin, swelling of the proximal joints, thickened digits, muscle weakness (greater in the upper limbs), and cutaneous signs such as Gottron's papules and the shawl sign. Although his dark pigmentation precluded visualization of a heliotrope rash, other signs were indicative of dermatomyositis-like presentation. Investigations in the laboratory, such as autoantibody workup and inflammatory markers, facilitated the diagnosis. Imaging made a diagnosis of subcutaneous calcinosis cutis of the axilla, a late sign of chronic connective tissue disease. Discussion: This case illustrates the diagnostic challenge of MCTD in children, especially about cutaneous manifestation in dark color skin. Axillary calcinosis, nodules of the breast, and musculoskeletal presentation are worrying about long-term course and treatment response. Treatment with immunosuppression early, physiotherapy, Multidisciplinary follow-ups are essential in preventing complications of progressive myositis, contractures of the joints, and pulmonary hypertension. Conclusion: MCTD is still a challenging diagnosis in children because of its pleomorphic nature. Dermatological manifestations must be identified by a high level of suspicion in dark-skinned patients, and calcinosis cutis could be a valuable marker for the chronicity of disease. Multidisciplinary treatment over the long term is key in maximizing outcome and prevention of systemic complications.

DOI: 10.22271/27078345.2025.v7.i1a.241

Pages: 21-25 | Views: 300 | Downloads: 72

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