Postnatal management of congenital Ichthyosis

Ichthyoses comprise a clinically and genetically heterogeneous group of hereditary cornification disorders, leading to a disturbed barrier function of the skin. Rare non-syndromic forms of ichthyosis present at birth are referred to as autosomal-recessive congenital ichthyoses (ARCI). ARCI are clinically subdivided into lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE), and the most severe, harlequin ichthyosis (HI). Clinical presentation: Here we present our experience in postnatal management of three neonates with lamellar ichthyosis (LI) and one newborn with Harlequin ichthyosis (HI). Diagnosis was made clinically in all 4 newborns. Consanguinity was denied in the LI families, but one father was a collodion baby. All LI-affected neonates were born term after an unremarkable gestation, whereas the Harlequin infant was delivered preterm at 33 + 1/7 weeks of gestation after PPROM for 2 days. Retrospectively thickened skin was seen in HI in prenatal ultrasonography. Clinical Management: All four infants were nursed in a warmed, humidified (> 80%) incubator to reduce trans-epidermal water loss (TEWL) and received basic skin care with sterile emollients with 5% dexpanthenol at least 3 x daily. To minimize bacterial and fungal colonization incubators were changed at least weekly and neonates were placed on sterile drapes. Umbilical venous lines were used for hydration, nutrition, pain relief and prophylactic antibiotic treatment; later medications were administered orally and intranasally. In HI Acitretin was given at 0.5 mg/kg/d with good results. For bacterial monitoring skin cultures were obtained daily and blood was drawn upon suspected infection. The Harlequin infant needed > 200 mL/kg/d and > 160 kcal/kg/d to gain weight, and supplementation with Sodium Bicarbonate. Pain control was achieved with long acting oral morphine and intranasal fentanyl and ketamine when handled. Additionally the Harlequin infant was sedated with chloral hydrate. Particularly in HI C-reactive protein was rising rapidly during the shedding of skin plates without clinical signs of severe infection. Conclusion: Due to its rare incidence, management of LI and HI phenotypes and information about successful treatment should be shared. We used a minimal invasive approach by avoiding unnecessary iv-lines as source of infection. To prevent excessive TEWL neonates must be treated in a warm high humidity environment. Prevention of infection is essential and threshold for antibiotic treatment should be low. Chinolones, penicillins or trimethoprim can be given orally as an alternative to placing iv-lines.