Juvenile idiopathic arthritis in infants with Harlequin Ichthyosis: two cases report and literature review

Abstract

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.

Juvenile idiopathic arthritis in Harlequin ichthyosis, a rare combination or the clinical spectrum of the disease? Report of a child treated with etanercept and review of the literature

“…At 9 years of age, because of inadequate disease control, methotrexate (MTX) was added, with an improvement of erythroderma as reported by parents. Auriti et al described two other cases [ 20 ]. The first one was male, delivered via caesarean section (CS) at 35 weeks because of preterm prelabour rupture of membranes (pPROM), with a birth weight of 2300 g and admitted to NICU.…”

Juvenile Idiopathic Arthritis in Harlequin Ichthyosis, a Rare Combination or the Clinical Spectrum of the Disease? Report of a Child Treated With Etanercept and Review of the Literature 

“…Auriti et al described two other cases. [21] The rst one was male, delivered via caesarean section (CS) at 35 weeks because of preterm prelabour rupture of membranes (pPROM), with a birth weight of 2300 g and admitted to NICU. Retinoid treatment was started in the rst day of life and stopped after 10 days.…”

Management of Harlequin Ichthyosis: A Brief Review of the Recent Literature

“…As most infants do not survive the neonatal period, it is crucial for the family to cope with the possibility of their probable loss [ 23 ]. In addition to the NICU (Neonatal Intensive Care Unit), the infant has to face a number of surgical procedures, such as reconstructive surgery and skin grafts, in order to manage the skin injuries and to treat the extremities and the eyelids [ 2 , 24 ]. Inevitably, the infant’s quality of life will be seriously affected due to the constant medical follow ups and medication intake [ 25 , 26 ].…”