Harlequin syndrome in a paediatric patient: a diagnostic challenge

Newborn with Harlequin Ichthyosis and the Nursing Care

“…[16][17][18] Although one of each 500 individuals carries a recessive gene for this disorder, the probability of marriage of two non-kin individuals having this gene is 1/250 000. 7 This is reported to be seen roughly one in a million. This case was presented considering the benefits of discussing the care process in the academic literature as it is a rarely encountered condition.…”

“…6 The substantial proportion of the skin is broken into diamond-shaped pieces by deep fissures. 7 This abnormal structure of the skin results from extreme keratinization. 5 The skin that becomes rigid because of extreme keratinization (10-fold thicker than the normal) makes movement difficult, and thereby deep fissures occur on this non-elastic skin.…”

“…5 The skin that becomes rigid because of extreme keratinization (10-fold thicker than the normal) makes movement difficult, and thereby deep fissures occur on this non-elastic skin. [5][6][7] It may be fatal in many newborns if the fissures are infected. 8 Ectropion (extroversion of the eye-lids) is encountered in infants born with this disorder.…”

“…Polydactyly is not uncommon. [5][6][7] These babies develop respiratory failure and respiratory tract infections because of both prematurity and inadequate expansion of the chest, which results from non-elastic skin over the chest. 6 Newborns with ichthyosis are quite susceptible to heat changes as their armored skin prevents normal heat loss; hence, hyperthermia appears to be the most common symptom.…”

“…Moreover, dehydration as well is a common sign because of impaired water-holding property of the skin. [5][6][7][8] Such patients usually die in the first days of their lives due to severe fluid loss, impaired heat balance, and sepsis. 9 The present case report concerning a newborn with harlequin ichthyosis, which is an uncommon case requiring intensive care, aimed to guide the care process by discussing the experiences over the course of nursing care period.…”