Two Cases of Autosomal Recessive Congenital Ichthyosis due toCYP4F22Mutations: Expanding the Genotype of Self-Healing Collodion Baby-Reference-Cited by-同舟云学术

Two Cases of Autosomal Recessive Congenital Ichthyosis due toCYP4F22Mutations: Expanding the Genotype of Self-Healing Collodion Baby

Published:2015-12-09 Issue:2 Volume:33 Page:e48-e51
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatr Dermatol

Author:

Noguera-Morel Lucero¹,Feito-Rodríguez Marta²,Maldonado-Cid Paola²,García-Miñáur Sixto³⁴,Kamsteeg Erik-Jan⁵,González-Sarmiento Rogelio⁶,De Lucas-Laguna Raúl²,Hernández-Martín Angela¹,Torrelo Antonio¹

Affiliation:

1. Department of Dermatology; Hospital Universitario Niño Jesús; Madrid Spain

2. Department of Dermatology; Hospital Universitario La Paz; Madrid Spain

3. Clinical Genetics Section; Institute of Medical and Molecular Genetics; Hospital Universitario La Paz; Universidad Autónoma de Madrid; Madrid Spain

4. Unit 753; Centro de Investigación Biomédica en Red de Enfermedades Raras; Instituto de Salud Carlos III; Madrid Spain

5. Department of Human Genetic, Genome Diagnostics; Radboud University Medical Centre; Nijmegen The Netherlands

6. Molecular Medicine Unit-Department of Medicine, IBSAL and IBMCC; Universitiy Hospital of Salamanca and CSIC; University of Salamanca; Spain

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pde.12740/fullpdf

Reference10 articles.

1. Pleomorphic ichthyosis: proposed name for a heterogeneous group of congenital ichthyoses with phenotypic shifting and mild residual scaling;Vahlquist;Acta Derm Venereol,2010

2. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009;Oji;J Am Acad Dermatol,2010

3. Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients;Vahlquist;J Invest Dermatol,2010

4. Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation;Raghunath;J Invest Dermatol,2003

5. Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene;Harting;Arch Dermatol,2008

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1. Inherited Disorders of Cornification;Rook's Textbook of Dermatology;2024-03-19

2. Ichthyosis;Nature Reviews Disease Primers;2023-01-19

3. Ceramide Analysis in Combination With Genetic Testing May Provide a Precise Diagnosis for Self-Healing Collodion Babies;Journal of Lipid Research;2022-12

4. Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal‐recessive congenital ichthyosis;Journal of the European Academy of Dermatology and Venereology;2022-01-13

5. Whole‐exome sequencing identified a novel pathogenic mutation of the CYP4F22 gene in a Chinese patient with autosomal recessive congenital ichthyosis and in vitro study of the mutant CYP4F22 protein;The Journal of Dermatology;2022-01-11