title: Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby.
abstract: Collodion babies are born with a tight, shiny cast that sheds in a few weeks. After shedding, most patients will display features of autosomal recessive congenital ichthyosis (ARCI) later in life but in up to 10% of cases, the skin eventually becomes normal or only minimally involved, a phenotype called self-healing collodion baby (SHCB), which is considered as ARCI subtype in the 2010 consensus classification of congenital ichthyosis. The term self-improving collodion ichthyosis (SICI) has been proposed for these patients. SHCB/SICI was initially associated with mutations in the gene TGM1. However, some cases showing ALOX12B and ALOXE3 gene mutations have also been reported. We report two cases of SHCB/SICI showing homozygous mutations in the gene CYP4F22.
authors.affiliation: Department of Dermatology, Hospital Universitario Niño Jesús, Madrid, Spain.
authors.forename: Lucero
authors.initials: L
authors.lastname: Noguera-Morel
authors.affiliation: Department of Dermatology, Hospital Universitario La Paz, Madrid, Spain.
authors.forename: Marta
authors.initials: M
authors.lastname: Feito-Rodríguez
authors.affiliation: Department of Dermatology, Hospital Universitario La Paz, Madrid, Spain.
authors.forename: Paola
authors.initials: P
authors.lastname: Maldonado-Cid
authors.affiliation: Clinical Genetics Section, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain.|Unit 753, Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
authors.forename: Sixto
authors.initials: S
authors.lastname: García-Miñáur
authors.affiliation: Department of Human Genetic, Genome Diagnostics, Radboud University Medical Centre, Nijmegen, The Netherlands.
authors.forename: Erik-Jan
authors.initials: EJ
authors.lastname: Kamsteeg
authors.affiliation: Molecular Medicine Unit-Department of Medicine, IBSAL and IBMCC, Universitiy Hospital of Salamanca and CSIC, University of Salamanca, Spain.
authors.forename: Rogelio
authors.initials: R
authors.lastname: González-Sarmiento
authors.affiliation: Department of Dermatology, Hospital Universitario La Paz, Madrid, Spain.
authors.forename: Raúl
authors.initials: R
authors.lastname: De Lucas-Laguna
authors.affiliation: Department of Dermatology, Hospital Universitario Niño Jesús, Madrid, Spain.
authors.forename: Angela
authors.initials: A
authors.lastname: Hernández-Martín
authors.affiliation: Department of Dermatology, Hospital Universitario Niño Jesús, Madrid, Spain.
authors.forename: Antonio
authors.initials: A
authors.lastname: Torrelo
mesh_terms: D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics*; D017490:Ichthyosis, Lamellar / Q000150:complications / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D003577:Cytochrome P-450 Enzyme System; C559989:CYP4F22 protein, human