Juvenile idiopathic arthritis in infants with Harlequin Ichthyosis: two cases report and literature review
Open Access
- 15 April 2020
- journal article
- review article
- Published by Springer Science and Business Media LLC in Italian Journal of Pediatrics
- Vol. 46 (1), 1-6
- https://doi.org/10.1186/s13052-020-0817-5
Abstract
Harlequin 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. We 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. The 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.Keywords
This publication has 27 references indexed in Scilit:
- Care of the newborn with ichthyosisDermatologic Therapy, 2013
- Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunctionCell and tissue research, 2012
- Total Hip Replacement in an Adolescent Patient with Harlequin Ichthyosis; A Case ReportHIP International, 2011
- The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermisDermato-Endocrinology, 2011
- Perinatal characteristics, early life infections and later risk of rheumatoid arthritis and juvenile idiopathic arthritisAnnals Of The Rheumatic Diseases, 2008
- Harlequin ichthyosis and juvenile idiopathic arthritis: a rare combinationClinical Rheumatology, 2006
- Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: The underlying genetic defects and pathomechanismsJournal of Dermatological Science, 2006
- Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin IchthyosisAmerican Journal of Human Genetics, 2005
- Harlequin Ichthyosis in Association with Hypothyroidism and Juvenile Rheumatoid ArthritisPediatric Dermatology, 2003
- An appraisal of acitretin therapy in children with inherited disorders of keratinizationBritish Journal of Dermatology, 1996