Unravelling the Diagnostic Dilemma of Juvenile Scleroderma: A Case Report

Juvenile scleroderma (JS) is a rare and often overlooked connective tissue disease in Paediatric populations. Its diagnosis is particularly challenging due to its multi-systemic involvement, and in developing countries like ours, the lack of diagnostic tools further complicates timely identification. We present the case of an 11-year-old male who presented to our children’s emergency room with a 2-year history of progressive skin thickening, flexion contracture and immobility of the right thumb. There was generalized body pain and swelling of the right upper limb. Additionally, the patient experienced recurrent cough, night sweats, easy fatigability, and occasional palpitations, though without significant weight loss. After an initial misdiagnosis and several ineffective treatments, the suspected diagnosis of JS led to a trial treatment with methylprednisolone and methotrexate, to which the patient responded favourably. This case underscores the importance of a high index of suspicion for the prompt diagnosis and management of rare childhood rheumatic diseases, as delay in diagnosis can exacerbate morbidity and increase mortality.