HI (HARLEQUIN ICHTHYOSIS) BABY

Abstract

HI is a very rare type of genetical abnormality but can be seen and scared by seeing various social media footages. It is associated with deletion and truncation mutations of a keratinocyte lipid transporter. Harlequin disorder is categorized  by diffuse epidermal hyperkeratinization along with defective desquamation. During birth, the HI phenotype is conspicuous with thick hyperkeratotic plate-like scales with deep dermal fissures, severe ectropion and eclabium, among other findings. In this ichthyosis marked eclabium and ectropion are present secondary to the taut as well as in the unyielding skin. The ears may be inattentive, absent or poorly developed. Even the arms, feet, and digits have flexion contractures and may be hypoplastic. The skin wall is harshly compromised, leading to undue water loss, causes electrolyte abnormalities, temperature alteration and an increased risk of deadly infection. Some of the primary treatments are smearing retinoids application for shedding the hard and scaly skin, topical antibiotics application can prevent infection, insertion an ET tube in the airway to assistance with breathing, applying lubricating eye drops or protective devices on the eyes. Following ongoing treatment like humidified incubator (for premature infants), continuous monitoring of TPR and SpO2, early intubation(optional), frequent cultures of the skin should be taken for lab testing, monitoring serum electrolyte levels, maintaining a germ-free environment to evade infection etc.