TY - JOUR
T1 - Juvenile idiopathic arthritis in infants with Harlequin Ichthyosis
T2 - Two cases report and literature review
AU - Auriti, Cinzia
AU - Rotunno, Roberta
AU - Diociaiuti, Andrea
AU - Manzoni, Silvia Magni
AU - Uva, Andrea
AU - Bersani, Iliana
AU - Santisi, Alessandra
AU - Dotta, Andrea
AU - El Hachem, May
N1 - Publisher Copyright:
© 2020 The Author(s).
PY - 2020/4/15
Y1 - 2020/4/15
N2 - Background: 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. Case presentation: 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. Conclusions: 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.
AB - Background: 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. Case presentation: 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. Conclusions: 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.
KW - Acitretin
KW - Case report
KW - Harlequin Ichthyosis
KW - Juvenile idiopathic arthritis
KW - Oral retinoids
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U2 - 10.1186/s13052-020-0817-5
DO - 10.1186/s13052-020-0817-5
M3 - Review article
C2 - 32293521
AN - SCOPUS:85083406598
VL - 46
JO - Italian Journal of Pediatrics
JF - Italian Journal of Pediatrics
SN - 1720-8424
IS - 1
M1 - 44
ER -