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Medicina
Special Issues
Diagnosis and Therapy of Rare Diseases
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Diagnosis and Therapy of Rare Diseases

A special issue of Medicina (ISSN 1648-9144). This special issue belongs to the section "Genetics and Molecular Medicine".

Deadline for manuscript submissions: 30 June 2024 | Viewed by 1035

Special Issue Editors

Dr. Emilia Severin

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Guest Editor
Department of Genetics, Carol Davila University of Medicine and Pharmacy, 020027 Bucharest, Romania
Interests: rare diseases
Dr. Nicoleta Andreescu

E-Mail Website
Guest Editor
Centre of Genomic Medicine, Victor Babes University of Medicine and Pharmacy, Timisoara, Romania
Interests: genetics in rare diseases
Special Issues, Collections and Topics in MDPI journals
Dr. Magdalena Budisteanu

E-Mail Website
Guest Editor
Department of Pediatric Neurology, Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, 041914 Bucharest, Romania
Interests: neurodevelopmental disorders; pediatric neurology; eating disorders; depressive/anxiety disorders; psychotic disorders; child and adolescent mental health; rare pediatric neurological diseases
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue on the "Diagnosis and Therapy of Rare Diseases" is dedicated to advancing our understanding and management of these medically challenging conditions. Rare diseases are characterized by their low prevalence. While each rare disease only affects a small number of people, collectively, there are over 6000 rare diseases impacting approximately 4% of the global population, constituting one of the largest patient communities. Rare diseases present unique diagnostic and therapeutic challenges.

This Issue aims to highlight the latest research and innovative approaches aimed at improving and transforming the lives of this vulnerable population. Our objective is to compile a collection of articles addressing the diverse aspects of rare diseases, spanning emerging genetic insights to practical clinical applications. We invite contributions encompassing the genetic foundations of rare diseases, state-of-the-art diagnostic methods, and cutting-edge therapeutic strategies.

The diverse and dynamic nature of cutting-edge research in rare diseases, such as exploring therapies targeting specific genetic mutations to improve lung function in cystic fibrosis or gene therapies in conditions such as spinal muscular atrophy, focuses on improving diagnostics, treatment options, and the overall quality of life for individuals affected by these conditions.

We welcome original research, reviews, case studies, and discussions concerning the ethical and legal considerations associated with rare disease management. Researchers, clinicians, and experts in the field are encouraged to share their insights into the molecular mechanisms, biomarkers, and multidisciplinary approaches that facilitate earlier, faster, and more accurate diagnosis, along with ensuring treatment availability, accessibility, and affordability.

Join us in advancing knowledge and fostering collaboration in the pursuit of improved diagnosis and therapy for individuals living with rare diseases.

Dr. Emilia Severin
Dr. Nicoleta Andreescu
Dr. Magdalena Budisteanu
Guest Editors

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. Medicina 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 1800 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

  • diagnostic advances
  • therapeutic strategies
  • molecular mechanism
  • genetic discoveries
  • clinical trials
  • patient-centered research

Published Papers (1 paper)

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Review

14 pages, 919 KiB  
Review
Multiple Keratoacanthoma-like Syndromes: Case Report and Literature Review
by Emmanouil Karampinis, Christina Kostopoulou, Olga Toli, Leonidas Marinos, George Papadimitriou, Angeliki Victoria Roussaki Schulze and Efterpi Zafiriou
Medicina 2024, 60(3), 371; https://doi.org/10.3390/medicina60030371 - 22 Feb 2024
Viewed by 795
Abstract
Keratoacanthoma (KA) is a fast-growing skin tumor subtype that can be observed as a solitary lesion or rarely as multiple lesions in the context of rare genetic syndromes. Syndromes with multiple keratoacanthoma-like lesions have been documented as multiple self-healing squamous epithelioma (Ferguson–Smith syndrome), [...] Read more.
Keratoacanthoma (KA) is a fast-growing skin tumor subtype that can be observed as a solitary lesion or rarely as multiple lesions in the context of rare genetic syndromes. Syndromes with multiple keratoacanthoma-like lesions have been documented as multiple self-healing squamous epithelioma (Ferguson–Smith syndrome), eruptive keratoacanthoma of Grzybowski, multiple familial keratoacanthoma of Witten and Zak Muir–Torre syndrome, and incontinentia pigmenti. The treatment approach of those entities is challenging due to the numerous lesions, the lesions’ undefined nature, and the co-existence of other malignant skin tumors. Herein, we report a case of a 40-year-old woman who developed multiple treatment-resistant Ferguson–Smith-like keratoacanthomas with a co-existing large and ulcerated invasive squamous cell carcinoma and microcystic adnexal carcinoma on the scalp. Multiple keratoacanthomas on her extremities were successfully treated with oral acitretin (0.5 mg/kg/day) in combination with topical Fluorouracil (5-FU) 5%, while excision and plastic surgery restoration were performed to treat the ulcerated cancer lesion on her scalp. Due to the interesting nature of this rare syndrome, we performed a literature review including case reports and case series on multiple-KA-like lesions syndromes and focusing on diagnosis and therapy approaches. We also conducted a comparison of patient reports, which included assessing the clinical appearance of the lesions and evaluating the success and progress or the failure of various treatment approaches that were implemented. Full article
(This article belongs to the Special Issue Diagnosis and Therapy of Rare Diseases)
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