A 7-year-old with indurated skin and unilateral progressive joint immobility: A case of stiff skin syndrome

摘要

Stiff skin syndrome is a rare sclerotic condition that presents during infancy or early childhood. It has an insidious chronic course and may lead to significant co-morbidity and reduced quality of life. Often, affected individuals experience impaired ambulation and immobilization related to joint involvement. Clinically, it may resemble other sclerotic diseases, so histopathological evaluation is necessary to establish a diagnosis. As it is a condition with limited treatment options, prompt diagnosis and early initiation of physical therapy is crucial to prevent joint restriction and maintain quality of life. We describe a case of a 7-year-old with stiff skin syndrome, and review the literature to discuss the clinical presentation, histological findings, and management of this condition.