Recessive Dystrophic Epidermolysis Bullosa: Rare Bilateral External Auditory Canal Stenosis and Surgical Treatment

Epidermolysis bullosa (EB) is a family of rare genetic disorders affecting the skin and mucous membranes, causing blisters and lesions. Its treatment is based on the prevention of traumatic events that could favor the onset of blisters as well as careful wound care. New therapies, including gene the...

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Autores principales: Milani, Alessandro, Pace, Annalisa, Iannella, Giannicola, Corsi, Alessandro, Cocuzza, Salvatore, Maniaci, Antonino, Greco, Antonio, Magliulo, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9761233/
https://www.ncbi.nlm.nih.gov/pubmed/36544566
http://dx.doi.org/10.1177/11795476221131196
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author Milani, Alessandro
Pace, Annalisa
Iannella, Giannicola
Corsi, Alessandro
Cocuzza, Salvatore
Maniaci, Antonino
Greco, Antonio
Magliulo, Giuseppe
author_facet Milani, Alessandro
Pace, Annalisa
Iannella, Giannicola
Corsi, Alessandro
Cocuzza, Salvatore
Maniaci, Antonino
Greco, Antonio
Magliulo, Giuseppe
author_sort Milani, Alessandro
collection PubMed
description Epidermolysis bullosa (EB) is a family of rare genetic disorders affecting the skin and mucous membranes, causing blisters and lesions. Its treatment is based on the prevention of traumatic events that could favor the onset of blisters as well as careful wound care. New therapies, including gene therapy, are under investigation. In the case described here, a rare localization of EB at the level of the ear canal is described. To our knowledge, no surgical option for treatment has previously been described in the literature. The clinical features observed and the therapeutic modalities adopted are presented and discussed. A 56-year-old female patient came to our attention for bilateral progressive hearing loss. The patient was suffering from Dystrophic EB. Surgical correction of the stenosis through a retroauricular approach was planned, with the simultaneous reconstruction of the right external auditory canal using the canaloplasty technique combined with Thiersch skin grafting. The case we report here is, to our knowledge, the second describing the surgical treatment of ear canal stenosis secondary to EB. As a result of surgical correction of the stenosis, the ear regained its physiological function and there was an improvement in hearing. In the subsequent post-operative controls, there was no recurrence of the disease, from which the patient is still free 36 months after surgery. Although conservative treatment is a solid choice, our experience seems to indicate that the surgical option allows better management of the Dystrophic EB in the external auditory canal.
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spelling pubmed-97612332022-12-20 Recessive Dystrophic Epidermolysis Bullosa: Rare Bilateral External Auditory Canal Stenosis and Surgical Treatment Milani, Alessandro Pace, Annalisa Iannella, Giannicola Corsi, Alessandro Cocuzza, Salvatore Maniaci, Antonino Greco, Antonio Magliulo, Giuseppe Clin Med Insights Case Rep Case Report Epidermolysis bullosa (EB) is a family of rare genetic disorders affecting the skin and mucous membranes, causing blisters and lesions. Its treatment is based on the prevention of traumatic events that could favor the onset of blisters as well as careful wound care. New therapies, including gene therapy, are under investigation. In the case described here, a rare localization of EB at the level of the ear canal is described. To our knowledge, no surgical option for treatment has previously been described in the literature. The clinical features observed and the therapeutic modalities adopted are presented and discussed. A 56-year-old female patient came to our attention for bilateral progressive hearing loss. The patient was suffering from Dystrophic EB. Surgical correction of the stenosis through a retroauricular approach was planned, with the simultaneous reconstruction of the right external auditory canal using the canaloplasty technique combined with Thiersch skin grafting. The case we report here is, to our knowledge, the second describing the surgical treatment of ear canal stenosis secondary to EB. As a result of surgical correction of the stenosis, the ear regained its physiological function and there was an improvement in hearing. In the subsequent post-operative controls, there was no recurrence of the disease, from which the patient is still free 36 months after surgery. Although conservative treatment is a solid choice, our experience seems to indicate that the surgical option allows better management of the Dystrophic EB in the external auditory canal. SAGE Publications 2022-12-16 /pmc/articles/PMC9761233/ /pubmed/36544566 http://dx.doi.org/10.1177/11795476221131196 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Report
Milani, Alessandro
Pace, Annalisa
Iannella, Giannicola
Corsi, Alessandro
Cocuzza, Salvatore
Maniaci, Antonino
Greco, Antonio
Magliulo, Giuseppe
Recessive Dystrophic Epidermolysis Bullosa: Rare Bilateral External Auditory Canal Stenosis and Surgical Treatment
title Recessive Dystrophic Epidermolysis Bullosa: Rare Bilateral External Auditory Canal Stenosis and Surgical Treatment
title_full Recessive Dystrophic Epidermolysis Bullosa: Rare Bilateral External Auditory Canal Stenosis and Surgical Treatment
title_fullStr Recessive Dystrophic Epidermolysis Bullosa: Rare Bilateral External Auditory Canal Stenosis and Surgical Treatment
title_full_unstemmed Recessive Dystrophic Epidermolysis Bullosa: Rare Bilateral External Auditory Canal Stenosis and Surgical Treatment
title_short Recessive Dystrophic Epidermolysis Bullosa: Rare Bilateral External Auditory Canal Stenosis and Surgical Treatment
title_sort recessive dystrophic epidermolysis bullosa: rare bilateral external auditory canal stenosis and surgical treatment
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9761233/
https://www.ncbi.nlm.nih.gov/pubmed/36544566
http://dx.doi.org/10.1177/11795476221131196
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