新生儿及儿科医学

抽象的

Siblings’ with Fatal Congenital Ichthyoses: A Case Report

Solomon Yinges

Objective: Ichthyoses are cornification disorders in which irregular epidermal separation and desquamation result in a faulty epidermal membrane. Harlequin Ichthyoses (HI) is a rare and extreme type that led to neonatal death. It is caused by mutations in the ABCA12 gene, and the inheritance pattern is autosomal recessive. This case report contributes significantly to medical knowledge to suspect and diagnose similar patients.

Case report: We present a case of Harlequin Ichthyoses that is diagnosed postnatal by clinical review. Extreme ectropion, eclabium, and malformed ears are present in the neonate. As a result of Harlequin Ichthyoses complications, the neonate died. There is history of similar illness in previous sibling who died in neonatal age. The present study is the first to report two cases of fatal HI from successive pregnancies in the same woman who has consanguinity marriage.

Conclusion: The severe form of harlequin Ichthyoses is often lethal in the perinatal period, and it is commonly a product of consanguineous parents. Definitive diagnosis is essential for long-term management as well as counseling to the parents, if they are considering having children together.