Abstract
BackgroundHarlequin Ichthyosis is the most severe variant of congenital autosomal recessive ichthyosis, associated with severe morbidity and potentially lethal in early life. At birth, patients present thick and plaque-like scales all over the body, with consequent cutaneous and extra-cutaneous complications, such as poor thermoregulation, recurrent infections, pain, electrolytes imbalance and joint contractures. Juvenile Idiopathic Arthritis usually manifests before the age of 16 years and persists for more than 6 weeks. The association between these two pathologies has been described in the literature as a very rare event, which creates diagnostic and therapeutic challenge.Case presentationWe describe two patients affected by Harlequin Ichthyosis who early developed Juvenile Idiopathic Arthritis. Both patients were treated with retinoids, ibuprofen and long-acting intra-articular glucocorticoids; due to polyarticular involvement, one child was also treated with weekly oral methotrexate.ConclusionsThe association between Harlequin Ichthyosis and Juvenile Idiopathic Arthritis is rare and the pathophysiological mechanism that binds them is still unknown. Nonetheless caregivers should be aware of the possible occurrence of Juvenile Idiopathic Arthritis at very early ages in children affected by Harlequin Ichthyosis.
Highlights
Harlequin Ichthyosis is the most severe variant of congenital autosomal recessive ichthyosis, associated with severe morbidity and potentially lethal in early life
Caregivers should be aware of the possible occurrence of Juvenile Idiopathic Arthritis at very early ages in children affected by Harlequin Ichthyosis
We describe two patients affected by Harlequin Ichthyosis (HI), who developed a persistent inflammatory arthritis, consistent with Juvenile Idiopathic Arthritis (JIA), in the first 2 years of life
Summary
HI has been considered a fatal disease for decades and the clinical course has currently improved thanks to the multidisciplinary approach [1, 25, 26]. HI neonates should be managed in neonatal intensive care units, starting short-course therapy with oral retinoids early and preventing infections with special attention. Systematic efficacy/safety studies, that allows to evaluate the most appropriate therapeutic scheme, rather than single reports, are strongly required. The possible development of JIA already in the early age of life should be always be kept in mind by caregivers and our experience suggests that the association between HI and JIA could be related to some inflammatory relationships between joints and skin and offer new research insights
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
