Management of Harlequin Ichthyosis: A Brief Review of the Recent Literature

Abstract

Harlequin ichthyosis (HI) is a life-threatening genetic disorder that largely affects the skin of infants. HI is the most severe form of the autosomal recessive disorder known as ichthyosis. It is caused by mutations in the A12 cassette (lipid-transporter adenosine triphosphate-binding cassette A12). Neonates affected by this disease are born with specific morphological characteristics, the most prominent of which is the appearance of platelet keratotic scales separated by erythematous fissures. The facial features include eclabium, ectropion, a distinct flattened nose, and dysplastic ears. A common finding among those with HI is impaired skin barrier function. The purpose of the present narrative review is to assess the most recent literature regarding the management of HI. Emphasis is given to surgical management and consultation, to the indications for timing and surgical intervention, to the risks that are presented with surgery, and to the details of the surgical procedure itself. Management of HI requires a multidisciplinary team of experts, and specific guidelines are needed in order for the risks to be minimized and viability to be increased.

Harlequin ichthyosis: A case report and literature review

“…Hence, it should be a reminder for surgical intervention using autologous skin grafts with the utmost care, physiotherapy, analgesia for painful deep fissures, and proper infection control. 16 Eye care by artificial tears lubrication and frequent evaluation by ophthalmologists is recommended. Repeated blockage of the ear canal may occur, and debridement is often required.…”

Harlequin ichthyosis newborn: A case report

“…They also pointed out that Vitamin D intake should be considered to avoid the retinoids’ side effects. 9 …”

“…In their review, surgical interventions were reported to treat eyelids and the digits’ necrosis. 9 Previous research suggested early surgery has a beneficial therapeutic effect in HI cases. 44 , 45 No evidence was found that early surgery resulted in less ectropion at 6–12 months of age.…”

“…Also, an important factor for increased survivability during neonatal management is the prevention of infections. 9 …”

“…8 HI typically exhibits thick and plaque-like scales all over the body and is associated with ectropion, eclabium and ear deformities, sparse scalp hair, short limbs, hypoplastic digits, and complete absence of eyebrows and eyelashes. [9][10][11] These infants are also at high risk for low body temperature, dehydration, respiratory, poor nutrition, low blood sodium, seizures and skin infection. 12,13 Due to respiratory failure, loss of fluid or skin infections, the probability of mortality for infants with HI is high.…”