title: Harlequin ichthyosis in two siblings.
abstract: Harlequin ichthyosis is a rare and extremely severe form of congenital ichthyosis. The affected neonates usually do not survive beyond first few days after birth, but several long-term survivals have been noted. The inheritance is thought to be autosomal recessive. It has recently been shown that the vast majority of affected individuals are homozygous for mutations in the ABCA12 gene, which cause a deficiency of the epidermal lipid transporter and result in hyperkeratosis and abnormal barrier function. Prenatal diagnosis is possible. We report a case of a newborn with Harlequin ichthyosis, a product of consanguineous marriage, with a history of similar disease leading to early neonatal death previously in a sibling.
authors.affiliation: Department of Dermatology, Combined Military Hospital, Abbottabad. aamir1158@gmail.com
authors.forename: Aamir
authors.initials: A
authors.lastname: Habib
authors.forename: Waseem
authors.initials: W
authors.lastname: Pasha
authors.forename: Naeem
authors.initials: N
authors.lastname: Raza
authors.forename: Asem
authors.initials: A
authors.lastname: Hameed
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D003241:Consanguinity; D017809:Fatal Outcome; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000175:diagnosis* / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D035781:Siblings
chemical_list: C473801:ABCA12 protein, human; D018528:ATP-Binding Cassette Transporters