Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care

Abstract

Harlequin ichthyosis (HI) is the most severe phenotype of the autosomal recessive congenital ichthyoses. HI is caused by mutations in the lipid transporter adenosine triphosphate binding cassette A 12 (ABCA12). Neonates are born with a distinct clinical appearance, encased in a dense, platelike keratotic scale separated by deep erythematous fissures. Facial features are distorted by severe ectropion, eclabium, flattened nose, and rudimentary ears. Skin barrier function is markedly impaired, which can lead to hypernatremic dehydration, impaired thermoregulation, increased metabolic demands, and increased risk of respiratory dysfunction and infection. Historically, infants with HI did not survive beyond the neonatal period; however, recent advances in neonatal intensive care and coordinated multidisciplinary management have greatly improved survival. In this review, the authors combine the growing HI literature with their collective experiences to provide a comprehensive review of the management of neonates with HI.

Juvenile idiopathic arthritis in infants with Harlequin Ichthyosis: two cases report and literature review

“…In HI babies, skin is markedly thickened, the hard stratum corneum cracks soon after birth and leads to deep erythematous fissures delimiting geometric skin plates, with alopecia, ectropion, eclabium, and flattened ears. Dehydration, hindered thermoregulation, increased metabolic demands, feeding disorders, respiratory distress, fingers fixed in flexion by tight skin and increased risk of infection may occur [1,10]. Skin of survivors evolves to generalized erythema and scaling, often with associated palmoplantar keratoderma.…”

“…The first line therapy of HI is oral retinoids and should be started early as much as possible [11,12]. The use of incubators with 50-85% humidification, the skin care with emollients and advanced dressing for fissures, eyes care with artificial tears and the close monitoring of possible extracutaneous complications are strongly recommended [1,9,11,12]. In some patients the surgical debridement of the joints of the hands and feet is inevitable, to allow movement and to avoid finger/ toe's necrosis.…”

“…It is still unclear whether the use of oral synthetic derivatives of vitamin A in neonates is associated with bones demineralization and/or fractures, as suggested by some authors. Only few case reports exist [1,15]. Sitek et al reported the case of an infant affected by HI treated with oral acitretin who developed osteopenia and multiple diaphyseal fractures of the four limbs [16].…”

“…Harlequin Ichthyosis (HI) is a severe genetic disorder of skin keratinization, caused by mutations in the ABCA12 gene, inherited as autosomal recessive trait. The estimated incidence is less than 1/300.000 births [1]. HI represents the most severe form of non-syndromic ichthyoses, associated with perinatal morbidity and potential lethality early in the life [1,2].…”

“…The estimated incidence is less than 1/300.000 births [1]. HI represents the most severe form of non-syndromic ichthyoses, associated with perinatal morbidity and potential lethality early in the life [1,2]. At birth, patients present thick and plaque-like scales all over the body, ectropion, eclabium and ears deformities, evolving in severe desquamative erythroderma.…”