Perinatal management of harlequin ichthyosis: a case report and literature review

Abstract

Harlequin ichthyosis (HI) is a rare and severe form of congenital ichthyosis. Linked to deletion and truncation mutations of a keratinocyte lipid transporter, HI is characterized by diffuse epidermal hyperkeratinization and defective desquamation. At birth, the HI phenotype is striking with thick hyperkeratotic plate-like scales with deep dermal fissures, severe ectropion and eclabium, among other findings. Over the first months of life, the hyperkeratotic covering is shed, revealing a diffusely erythematous, scaly epidermis, which persists for the remainder of the patient's life. Although HI infants have historically succumbed in the perinatal period related to their profound epidermal compromise, the prognosis of HI infants has vastly improved over the past 20 years. Here, we report a case of HI treated with acitretin, focusing on the multi-faceted management of the disease in the inpatient setting. A review of the literature of the management of HI during the perinatal period is also presented.

Harlequin ichthyosis: A rare dermatological disorder

“…As per scientific literature reports in 2007, there have been reports of 101 cases in worldwide medical literature [5]. Harlequin ichthyosis is an inherited autosomal recessive trait disease [6,7] caused by mutations of the ABCA12 gene (adenosine triphosphatebinding cassette A12), resulting in defective lipid transport significantly impacting the normal development of the skin barrier [8,9]. Diffuse hyperkeratinization and desquamation are characteristic of harlequin ichthyosis [10].…”

Harlequin Baby

“…Present treatment primarily entails the use of humidified incubator, temperature regulation, nutrition replacement, skin and eye care, pain control, physiotherapy, and infection control [6]. Topical keratinolytics freqoeotly used in adulthood (salicylic acid, alpha hydroxyl acids aod urea) are not appropriate in the neonatal period due to potential systemic toxicity from increased cutaneous absorption.…”

Ictiosis arlequín, una genodermatosis devastadora

“…2 Se trata de una entidad de herencia autosómica recesiva, causada por la mutación del gen ABCA12 (adenosine triphosphatebinding cassette A12), que resulta en el transporte defectuoso de lípidos, alteración que impacta de manera significativa el desarrollo normal de la piel. 3 Los bebés suelen nacer prematuros y están "encerrados" en un estrato córneo engrosado que a menudo se describe como armadura. Después del nacimiento se producen fisuras rojas en estas placas duras e inflexibles que se extienden hasta la dermis resultando en una piel parecida a un comodín.…”