Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations.

Autor:	Hotz A; European Reference Networks (ERN Skin), 75015 Paris, France.; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, 79106 Freiburg, Germany.; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany., Fölster-Holst R; Department of Dermatology, Venerology and Allergology, University Medical Center Schleswig-Holstein, 24105 Kiel, Germany., Oji V; European Reference Networks (ERN Skin), 75015 Paris, France.; Department of Dermatology and Venereology, Muenster University Medical Center, 48149 Muenster, Germany., Bourrat E; Department of Dermatology, Reference Center for Rare Skin Diseases MAGEC, Saint Louis Hospital AP-HP, 75015 Paris, France., Frank J; Department of Dermatology, Venereology and Allergology, University Medical Center Göttingen, 37075 Göttingen, Germany., Marrakchi S; Department of Dermatology, CHU Hedi Chaker, Sfax University, Sfax 3029, Tunisia., Ennouri M; Laboratory of Molecular and Functional Genetics, Faculty of Sciences of Sfax, Sfax University, Sfax 3029, Tunisia., Wankner L; European Reference Networks (ERN Skin), 75015 Paris, France.; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, 79106 Freiburg, Germany.; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany., Komlosi K; European Reference Networks (ERN Skin), 75015 Paris, France.; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, 79106 Freiburg, Germany.; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany., Alter S; European Reference Networks (ERN Skin), 75015 Paris, France.; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, 79106 Freiburg, Germany.; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany., Fischer J; European Reference Networks (ERN Skin), 75015 Paris, France.; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, 79106 Freiburg, Germany.; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
Jazyk:	angličtina
Zdroj:	Genes [Genes (Basel)] 2024 Feb 24; Vol. 15 (3). Date of Electronic Publication: 2024 Feb 24.
DOI:	10.3390/genes15030288
Abstrakt:	Erythrokeratodermia variabilis (EKV) is a rare genodermatosis characterized by well-demarcated erythematous patches and hyperkeratotic plaques. EKV is most often transmitted in an autosomal dominant manner. Until recently, only mutations in connexins such as GJB3 (connexin 31), GJB4 (connexin 30.3), and occasionally GJA1 (connexin 43) were known to cause EKV. In recent years, mutations in other genes have been described as rare causes of EKV, including the genes KDSR , KRT83 , and TRPM4 . Features of the EKV phenotype can also appear with other genodermatoses: for example, in Netherton syndrome, which hampers correct diagnosis. However, in autosomal recessive congenital ichthyosis (ARCI), an EKV phenotype has rarely been described. Here, we report on seven patients who clinically show a clear EKV phenotype, but in whom molecular genetic analysis revealed biallelic mutations in ABCA12 , which is why the patients are classified in the ARCI group. Our study indicates that ARCI should be considered as a differential diagnosis in EKV.
Databáze:	MEDLINE
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