PA15 Harlequin ichthyosis: a multidisciplinary journey from antenatal to neonatal care

Abstract Harlequin ichthyosis is a very rare genodermatosis with a birth incidence of 1 in 300 000 births and a high mortality rate of 50% (Ahmed H, O’Toole E. Recent advances in the genetics and management of harlequin ichthyosis. Paediatr Dermatol 2014; 31: 539–46). This case highlights the need for highly specialized neonatal care. A routine 29 + 4 week antenatal ultrasound scan in a 34-year-old gravida 1 para 2 woman revealed severe hyperkeratosis and dysmorphic features. The parents were consanguineously related. Amniocentesis with Sanger sequencing confirmed homozygosity for the ABCA12 c.4419dup, p.(Lys1474Ter) pathogenic variant, consistent with harlequin ichthyosis. An urgent multidisciplinary team (MDT) meeting, involving the local team and a regional expert centre, planned optimal care with an elective caesarean at 37 weeks, but spontaneous labour at 36 weeks necessitated an emergency caesarean. At birth, respiratory distress required emergency intubation; mucocutaneous findings included hyperkeratotic skin, bilateral ectropion, eclabium and dysplastic ears. Due to compromised circulation in the extremities, bedside escharotomy-like procedures were performed. Dermatologists commenced oral acitretin at 0.5 mg kg−1 per day at 2 days of life, increasing to 1 mg kg−1 per day on day 30. Skin barrier was maintained to minimize infection risk. A humidified incubator was used to optimize temperature and hydration. Complications during the neonatal period included a 17-day ventilation requirement, sepsis caused by multidrug-resistant Klebsiella, Staphylococcus haemolyticus and Candida requiring intensive antibiotic and antifungal therapy, and anaemia of prematurity requiring multiple transfusions. Exposure keratitis was managed with amniotic membrane transplantation, but persistent corneal exposure necessitated eyelid skin grafting at another trust. Weight gain was poor due to the high caloric demands, despite nasogastric feeding with skin-protective measures. Otology and audiology managed hearing assessments and will perform ear canal debridement as needed. The Ichthyosis Support Group offered parental support. The regional expert centre provided ongoing MDT support. This case highlights the multisystemic complexity of harlequin ichthyosis. Even tertiary centres may not have sufficient expertise across all required specialties. The UK lacks a clear national referral pathway, unlike the epidermolysis bullosa highly specialized service (HSS), although discussion has been underway regarding the establishment of an HSS for ichthyosis for over 20 years. Several expert centres provide support upon request. We hope that this case will add to the impetus for a national MDT framework for congenital ichthyosis to standardize care, ensure equitable access to specialized services, establish a national register and provide dedicated nursing support to improve patient outcomes.