title: Harlequin ichthyosis in an infant born to a father with eczema.
abstract: Harlequin ichthyosis is characterized by thickening of the layer of the skin which contains keratin. Eczema is a chronic relapsing skin disorder which is also associated with disrupted epidermal barrier. We report the case of a 6-hour-old male patient who was brought to the neonatal intensive care unit of our hospital with crusting skin lesions all over the body, presence of a severe ectropion and deranged electrolytes. A diagnosis of harlequin ichthyosis was made, and the neonate was managed accordingly. However, the infant eventually expired on the seventh day of life. The infant's father was a patient of eczema with a chronic relapsing course and was on oral steroid therapy. As per our knowledge, this is the first reported case of an infant with harlequin ichthyosis born to a father suffering from eczema. The similarities in the pathogenesis of the two diseases and the genetic mutation of filaggrin might suggest an association between the two conditions. Harlequin ichthyosis can hence be looked out for in infants born of parents with eczema.
authors.affiliation: Department of Pediatrics, Civil Hospital Karachi, Karachi, Pakistan, 74200.
authors.forename: Saba
authors.initials: S
authors.lastname: Fatima
authors.affiliation: Department of Dermatology, Civil Hospital Karachi, Karachi, Pakistan, 74200.
authors.forename: Ali
authors.initials: A
authors.lastname: Rafiq
authors.affiliation: Department of Pediatrics, Civil Hospital Karachi, Karachi, Pakistan, 74200 zain88@hotmail.com.
authors.forename: Zain
authors.initials: Z
authors.lastname: Majid
mesh_terms: D004483:Ectropion / Q000209:etiology*; D004485:Eczema / Q000235:genetics*; D017809:Fatal Outcome; D005220:Fathers; D000091344:Filaggrin Proteins; D020022:Genetic Predisposition to Disease; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000175:diagnosis* / Q000235:genetics; D007231:Infant, Newborn; D007363:Intensive Care Units, Neonatal; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male
chemical_list: C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins
keywords: eczema; harlequin ichthyosis; neonate; pediatric dermatology