Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis

Abstract

A 31-year-old multiparous lady, gravida 3, para 2, live 1, 1 early neonatal death with second degree consanguineous marriage, presented to us at eight weeks for routine antenatal checkup.In her first pregnancy, she had delivered a preterm, male baby at 36 weeks gestation, which died after 4 days of life. At birth, baby was found to have dry, scaly skin all over the body, wide open mouth with protruding lip, hypoplastic ears and nose and contractures of fingers and toes. A clinical diagnosis of harlequin ichthyosis was made. The couple underwent genetic counseling, where they were explained about the genetic etiology of the problem and the risk of recurrence in subsequent pregnancies. Option of fetal DNA banking for prenatal diagnosis in next pregnancy was offered to the parents but was not done due to financial constraints in the family.Her second pregnancy was unremarkable and she delivered a healthy male baby at term with no stigmata of HI.

A harlequin ichthyosis pig model with a novel ABCA12 mutation can be rescued by acitretin treatment

“…A disordered arrangement of spinous cells and basale cells was observed in Z9 pig epidermis but has not been reported in ABCA12 null mouse epidermis. However, these findings are similar to those seen in skin biopsy of human patients with HI, which exhibited disordered basale cells (Rathore et al, 2015). Therefore, we infer that epidermal disordered arrangement is one of the common features between human patients with HI and Z9 pigs.…”

Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report

“…HI can therefore largely be explained by genetic variations. With the development of medical techniques, HI with a family history could be successfully diagnosed at the prenatal stage ( Yanagi et al, 2008 ; Ahmed and O’Toole, 2014 ; Rathore et al, 2015 ; Xie et al, 2016 ; Jian et al, 2018 ; Loo et al, 2018 ; Sheth et al, 2018 ; Liang et al, 2019 ). Here, we report a case without a family history of HI.…”

Ictiose arlequim – manejo do nascimento aos 3 anos de idade

“…A ictiose arlequim foi associada a altas taxas de mortalidade e morbidade, contudo, com a introdução de tratamento precoce com retinóides via oral e com os cuidados em Unidade de Terapia Intensiva Neonatal, a taxa de mortalidade tornou-se menor do que 50%. 6,7 O uso de retinóides atua na prevenção de hiperceratose e na diminuição de escamas características da ictiose. 8 O acitretin é um análogo sintético do ácido retinóico que permite controlar a proliferação epitelial 9 .…”

“…Outro fator que influencia no prognóstico da doença é o diagnóstico pré-natal, realizado por meio da ultrassonografia durante o terceiro trimestre. Achados sugestivos são orelhas rudimentares, contratura em flexão nos joelhos, líquido amniótico com partículas densas, língua protuberante e lábios evertidos 6,7 . Na ecografia realizada durante a 28ª semana de gestação, foram observadas anormalidades faciais, como malformações orais e língua protuberante.…”