Harlequin Ichthyosis: Case Report

Patrícia A Couto,Luciana M Santos,Jessica C N Araújo,Cecilya M Mota,Sidharta Q Gadelha,Caroline A R Chirano,Elaine D Melo,Valeria K A Ferreira,Marcela C Pastore,Patricia C B De Melo

doi:10.29021/spdv.77.1.984

Abstract

Harlequin ichthyosis is a rare autosomal recessive congenital disease in which neonates present generalized hyperkeratotic plaques and deep fissures, ectropion, eclabium, malformation of the auricular pavilion and typical facies. Although several complications related to the skin restriction may occur, support in intensive care and early introduction of systemic retinoids, such as acitretin, have significantly contributed to patients' survival and improved prognosis. The purpose of this report is to present a rare case of harlequin ichthyosis and to discuss strategies for early diagnosis and first supportive care.

Highlights

Harlequin ichthyosis is a rare autosomal recessive congenital disease associated with the mutation of the ABCA12 gene located at chromosome 2 (2q34) and affects 1 in 300,000 live births,[1] leading to a change in the lipid deposition of the stratum corneum, resulting in skin barrier disruption, compensatory hyperkeratinization, and epidermal desquamation.[2]
The purpose of this report is to present a rare case of harlequin ichthyosis and to discuss strategies for early diagnosis and first supportive care
Prenatal diagnosis by ultrasound can usually be performed in the second trimester,[5] as some changes may suggest this diagnosis: polydraminia, limb changes such as hypoplasia or fixed flexion, closed hands and crooked feet, eclipse, ectropion, lips changes with the mouth constantly open or micrognathia, ear hypoplasia, short umbilical cord, flat nose and flat facies are characteristic of ichthyosis aarlequin.[1]

Summary

Introduction

Harlequin ichthyosis is a rare autosomal recessive congenital disease associated with the mutation of the ABCA12 gene located at chromosome 2 (2q34) and affects 1 in 300,000 live births,[1] leading to a change in the lipid deposition of the stratum corneum, resulting in skin barrier disruption, compensatory hyperkeratinization, and epidermal desquamation.[2] Clinically, neonates present generalized hyperkeratotic plaques and deep fissures, ectropion, eclabium, malformation of the auricular pavilion and typical facies. Support in intensive care and early introduction of systemic retinoids, such as acitretin, have significantly contributed to improve patients' survival and prognosis.[3] The reported case refers to a neonate who presented partial improvement with emollient dressings derived from petrolatum, but due to the unavailability of the retinoid progressed to death with lung infection and respiratory failure. The purpose of this report is to present a rare case of harlequin ichthyosis and to discuss strategies for early diagnosis and first supportive care

Objectives

Discussion

Conclusion