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Biomedicines
Special Issues
Molecular Processes Underlying Pathogenesis and Advanced Therapies for Genodermatosis
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Molecular Processes Underlying Pathogenesis and Advanced Therapies for Genodermatosis

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular Genetics and Genetic Diseases".

Deadline for manuscript submissions: 30 September 2024 | Viewed by 1935

Special Issue Editor

Dr. Natividad Cuadrado-Corrales

E-Mail Website
Guest Editor
Department of Public Health & Maternal and Child Health, Faculty of Medicine, Universidad Complutense de Madrid, 28040 Madrid, Spain
Interests: public health; human genetics; genetic epidemiology

Special Issue Information

Dear Colleagues,

Genodermatosis is a heterogeneous group of rare diseases with multiple dermal clinical phenotypes. They are mainly monogenic diseases, caused by the action of one mutation in a particular gene.  Different genes that encode for proteins are involved in skin cohesion at the various stratified epithelia. Molecular mechanisms of genodermatosis are progressively being elucidated, and different multi-omics approaches have helped to understand pathological processes that provide strategies for precision medicine and development of potential therapies.

The aim of this Special Issue is to focus on clinical diagnosis, pathogenesis, molecular genetics, and therapeutic perspectives of genodermatosis in a collection of papers on scientific aspects framed around this group of rare diseases.

Dr. Natividad Cuadrado-Corrales
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Biomedicines is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • genodermatosis
  • rare skin disease
  • molecular pathology
  • clinical diagnostic
  • gene therapy

Published Papers (2 papers)

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Research

17 pages, 4554 KiB  
Article
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis
by Tiziana Fioretti, Fabrizio Martora, Ilaria De Maggio, Adelaide Ambrosio, Carmelo Piscopo, Sabrina Vallone, Felice Amato, Diego Passaro, Fabio Acquaviva, Francesca Gaudiello, Daniela Di Girolamo, Valeria Maiolo, Federica Zarrilli, Speranza Esposito, Giuseppina Vitiello, Luigi Auricchio, Elena Sammarco, Daniele De Brasi, Roberta Petillo, Antonella Gambale, Fabio Cattaneo, Rosario Ammendola, Paola Nappa and Gabriella Espositoadd Show full author list remove Hide full author list
Biomedicines 2024, 12(5), 1112; https://doi.org/10.3390/biomedicines12051112 - 17 May 2024
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Abstract
Inherited ichthyoses are a group of clinically and genetically heterogeneous rare disorders of skin keratinization with overlapping phenotypes. The clinical picture and family history are crucial to formulating the diagnostic hypothesis, but only the identification of the genetic defect allows the correct classification. [...] Read more.
Inherited ichthyoses are a group of clinically and genetically heterogeneous rare disorders of skin keratinization with overlapping phenotypes. The clinical picture and family history are crucial to formulating the diagnostic hypothesis, but only the identification of the genetic defect allows the correct classification. In the attempt to molecularly classify 17 unrelated Italian patients referred with congenital nonsyndromic ichthyosis, we performed massively parallel sequencing of over 50 ichthyosis-related genes. Genetic data of 300 Italian unaffected subjects were also analyzed to evaluate frequencies of putative disease-causing alleles in our population. For all patients, we identified the molecular cause of the disease. Eight patients were affected by autosomal recessive congenital ichthyosis associated with ALOX12B, NIPAL4, and TGM1 mutations. Three patients had biallelic loss-of-function variants in FLG, whereas 6/11 males were affected by X-linked ichthyosis. Among the 24 different disease-causing alleles we identified, 8 carried novel variants, including a synonymous TGM1 variant that resulted in a splicing defect. Moreover, we generated a priority list of the ichthyosis-related genes that showed a significant number of rare and novel variants in our population. In conclusion, our comprehensive molecular analysis resulted in an effective first-tier test for the early classification of ichthyosis patients. It also expands the genetic, mutational, and phenotypic spectra of inherited ichthyosis and provides new insight into the current understanding of etiologies and epidemiology of this group of rare disorders. Full article
(This article belongs to the Special Issue Molecular Processes Underlying Pathogenesis and Advanced Therapies for Genodermatosis)
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12 pages, 280 KiB  
Article
Clinical Characteristics and Outcomes of Patients Hospitalized with Epidermolysis Bullosa: A Retrospective Population-Based Observational Study in Spain (2016–2021)
by Natividad Cuadrado-Corrales, Ana Lopez-de-Andres, Valentín Hernández-Barrera, David Carabantes-Alarcon, Jose J. Zamorano-Leon, Ricardo Omaña-Palanco, Jose L. Del-Barrio, Javier De-Miguel-Díez, Rodrigo Jimenez-Garcia and Juan J. Montoya
Biomedicines 2023, 11(9), 2584; https://doi.org/10.3390/biomedicines11092584 - 20 Sep 2023
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Abstract
(1) Background: Epidermolysis bullosa (EB) comprises a group of rare skin diseases. We assessed diagnostic procedures, comorbidity profiles, length of hospital stay (LOHS), costs, and in-hospital mortality (IHM) associated with EB. (2) Methods: A retrospective, population-based observational study was performed using the Spanish [...] Read more.
(1) Background: Epidermolysis bullosa (EB) comprises a group of rare skin diseases. We assessed diagnostic procedures, comorbidity profiles, length of hospital stay (LOHS), costs, and in-hospital mortality (IHM) associated with EB. (2) Methods: A retrospective, population-based observational study was performed using the Spanish National Hospital Discharge Database. Hospitalized patients with EB in Spain were identified for the period 2016 to 2021. (3) Results: A total of 677 hospitalizations were identified among 342 patients with a diagnosis of EB. Fifty percent of patients had at least one readmission during the 6-year follow-up. Notably, rehospitalizations were more common among patients aged 2–17 years. The most prevalent comorbidity was digestive disorders, which were associated with the frequency of esophageal dilatation procedures and percutaneous endoscopic gastrostomy. The longest LOHS was recorded for the 0- to 1-year age group. IHM increased with age, and the difference was statistically significant. The prevalence of malignant neoplasm was 36.88%, with cutaneous squamous cell carcinoma being the most frequent. The overall cost per hospitalized patient was estimated to be EUR 10,895.22 (SD EUR 13,394.81), with significant variations between age groups. (4) Conclusions: Readmissions are very frequent among people with EB. We observed a higher LOHS in the 0- to 1-year age group, while the highest rates of IHM were observed in patients older than 50 years. There was a substantial prevalence of comorbidities, namely, digestive disorders, infectious diseases, and especially cancer. Full article
(This article belongs to the Special Issue Molecular Processes Underlying Pathogenesis and Advanced Therapies for Genodermatosis)
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