Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report

KEY CLINICAL MESSAGE: The presence of more than one genetic/genomic disorder is not uncommon. It is therefore essential to continuously consider new signs and symptoms over time. Administration of gene therapy could be extremely difficult in particular situations. ABSTRACT: A 9‐month‐old boy present...

Descripción completa

Detalles Bibliográficos
Autores principales: Amato, Maria Eugenia, Ricart, Silvia, Vicente, Maria Asunción, Martorell, Loreto, Armstrong, Judith, Fernández Isern, Guerau, Mascaro, José Manuel, Balsells, Sol, Alonso, Itziar, Serrano, Mercedes, Ortigoza‐Escobar, Juan Darío
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10126752/
https://www.ncbi.nlm.nih.gov/pubmed/37113642
http://dx.doi.org/10.1002/ccr3.7275
_version_ 1785030326535323648
author Amato, Maria Eugenia
Ricart, Silvia
Vicente, Maria Asunción
Martorell, Loreto
Armstrong, Judith
Fernández Isern, Guerau
Mascaro, José Manuel
Balsells, Sol
Alonso, Itziar
Serrano, Mercedes
Ortigoza‐Escobar, Juan Darío
author_facet Amato, Maria Eugenia
Ricart, Silvia
Vicente, Maria Asunción
Martorell, Loreto
Armstrong, Judith
Fernández Isern, Guerau
Mascaro, José Manuel
Balsells, Sol
Alonso, Itziar
Serrano, Mercedes
Ortigoza‐Escobar, Juan Darío
author_sort Amato, Maria Eugenia
collection PubMed
description KEY CLINICAL MESSAGE: The presence of more than one genetic/genomic disorder is not uncommon. It is therefore essential to continuously consider new signs and symptoms over time. Administration of gene therapy could be extremely difficult in particular situations. ABSTRACT: A 9‐month‐old boy presented to our department for evaluation of developmental delay. We found that he was affected by intermediate junctional epidermolysis bullosa (COL17A1, c.3766 + 1G > A, homozygous), Angelman syndrome (5,5 Mb deletion of 15q11.2‐q13.1), and autosomal recessive deafness type 57 (PDZD7, c.883C > T, homozygous).
format Online
Article
Text
id pubmed-10126752
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-101267522023-04-26 Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report Amato, Maria Eugenia Ricart, Silvia Vicente, Maria Asunción Martorell, Loreto Armstrong, Judith Fernández Isern, Guerau Mascaro, José Manuel Balsells, Sol Alonso, Itziar Serrano, Mercedes Ortigoza‐Escobar, Juan Darío Clin Case Rep Case Report KEY CLINICAL MESSAGE: The presence of more than one genetic/genomic disorder is not uncommon. It is therefore essential to continuously consider new signs and symptoms over time. Administration of gene therapy could be extremely difficult in particular situations. ABSTRACT: A 9‐month‐old boy presented to our department for evaluation of developmental delay. We found that he was affected by intermediate junctional epidermolysis bullosa (COL17A1, c.3766 + 1G > A, homozygous), Angelman syndrome (5,5 Mb deletion of 15q11.2‐q13.1), and autosomal recessive deafness type 57 (PDZD7, c.883C > T, homozygous). John Wiley and Sons Inc. 2023-04-24 /pmc/articles/PMC10126752/ /pubmed/37113642 http://dx.doi.org/10.1002/ccr3.7275 Text en © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Amato, Maria Eugenia
Ricart, Silvia
Vicente, Maria Asunción
Martorell, Loreto
Armstrong, Judith
Fernández Isern, Guerau
Mascaro, José Manuel
Balsells, Sol
Alonso, Itziar
Serrano, Mercedes
Ortigoza‐Escobar, Juan Darío
Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report
title Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report
title_full Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report
title_fullStr Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report
title_full_unstemmed Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report
title_short Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report
title_sort coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and angelman syndrome: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10126752/
https://www.ncbi.nlm.nih.gov/pubmed/37113642
http://dx.doi.org/10.1002/ccr3.7275
work_keys_str_mv AT amatomariaeugenia coexistenceofjunctionalepidermolysisbullosaautosomalrecessivedeafnesstype57andangelmansyndromeacasereport
AT ricartsilvia coexistenceofjunctionalepidermolysisbullosaautosomalrecessivedeafnesstype57andangelmansyndromeacasereport
AT vicentemariaasuncion coexistenceofjunctionalepidermolysisbullosaautosomalrecessivedeafnesstype57andangelmansyndromeacasereport
AT martorellloreto coexistenceofjunctionalepidermolysisbullosaautosomalrecessivedeafnesstype57andangelmansyndromeacasereport
AT armstrongjudith coexistenceofjunctionalepidermolysisbullosaautosomalrecessivedeafnesstype57andangelmansyndromeacasereport
AT fernandezisernguerau coexistenceofjunctionalepidermolysisbullosaautosomalrecessivedeafnesstype57andangelmansyndromeacasereport
AT mascarojosemanuel coexistenceofjunctionalepidermolysisbullosaautosomalrecessivedeafnesstype57andangelmansyndromeacasereport
AT balsellssol coexistenceofjunctionalepidermolysisbullosaautosomalrecessivedeafnesstype57andangelmansyndromeacasereport
AT alonsoitziar coexistenceofjunctionalepidermolysisbullosaautosomalrecessivedeafnesstype57andangelmansyndromeacasereport
AT serranomercedes coexistenceofjunctionalepidermolysisbullosaautosomalrecessivedeafnesstype57andangelmansyndromeacasereport
AT ortigozaescobarjuandario coexistenceofjunctionalepidermolysisbullosaautosomalrecessivedeafnesstype57andangelmansyndromeacasereport

Ejemplares similares