title: Ichthyosis congenita, harlequin fetus type: a case report.
abstract: Ichthyosis is a very heterogeneous family of skin disorders with harlequin ichthyosis being the most severe genetic form. It is a rare autosomal recessive condition, characterized by dry, severely thickened skin with large plates of hyperkeratotic scale, separated by deep fissures. Infants are very susceptible to metabolic abnormalities and infections. They usually do not survive for very long, but several long term survivals have been noted. The vast majority of affected individuals are homozygous for mutations in the ABCA12 gene, which cause a deficiency of the epidermal lipid transporter, resulting in hyperkeratosis and abnormal barrier function. We report a case of a newborn with harlequin ichthyosis, born to unrelated parents, who had a favorable evolution with topical treatment and intensive care.
authors: Medical Genetics Department, University of Medicine and Pharmacy "Victor Babes", Timisoara, Romania.
authors: V
authors: V
authors: Belengeanu
authors: D
authors: D
authors: Stoicanescu
authors: M
authors: M
authors: Stoian
authors: N
authors: N
authors: Andreescu
authors: C
authors: C
authors: Budisan
mesh_terms: D000015:Abnormalities, Multiple; D005260:Female; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000150:complications / Q000628:therapy; D007231:Infant, Newborn; D016104:Oligohydramnios; D011247:Pregnancy