Announcements

28 February 2025 is the 18th International Rare Disease Day. The establishment of this international day aims to further increase the public’s attention and awareness of rare diseases, promote the popularization of rare diseases, promote the screening, diagnosis and prevention of rare genetic diseases, and improve the quality of life.

Rare diseases usually refer to diseases with a very low incidence rate. The World Health Organization defines diseases with a prevalence rate between 0.065% and 0.1% of the total population as rare diseases. Rare diseases do not refer to a specific disease but constitute a general term for diseases with a low incidence rate that occur in various systems. Although the incidence rate of a single rare disease is low, there are many types, currently more than 7,000, and the total number of patients with rare disease is quite high. According to statistics, there are more than 300 million patients with rare diseases in the world. Rare diseases are mostly chronic and serious diseases that often endanger life.

In recognition of this day, we recommend the following related articles, Special Issues, and journals spanning multidisciplinary fields, including clinical medicine areas and society areas. We believe that sharing such research can raise the public’s awareness and understanding of rare diseases. By disseminating these findings, we hope to inspire positive change, promote scientific education on rare diseases, and promote the screening, diagnosis and prevention of rare genetic diseases.

“Evaluation of ACR TI-RADS for Predicting Malignancy in Thyroid Nodules: Insights from Fine-Needle Aspiration Cytology and Histopathology Results”
by Ahmed Alsibani, Mohammed Alessa, Fahad Alwadi, Shams Alotaibi, Hana Alfaleh, Ali M. Moshibah, Abdullah M. Alqahtani, Abdulwahed AlQahtani, Mohammad Almayouf, Saleh F. Aldhahri et al.
J. Oman Med. Assoc. 2024, 1(1), 61-68; https://doi.org/10.3390/joma1010007

“Endoscopic Guided Dilations without Intralesional Corticosteroid Injections: Pediatric Crohn’s Patients Case Series”
by Leo Fawaz, Yousif Slim and Peter N. Freswick
Reports 2024, 7(4), 81; https://doi.org/10.3390/reports7040081

“Self-Reported Medication Adherence Measured with Morisky Scales in Rare Disease Patients: A Systematic Review and Meta-Analysis”
by Ana María García-Muñoz, Desirée Victoria-Montesinos, Begoña Cerdá, Pura Ballester, Eloisa María de Velasco and Pilar Zafrilla
Healthcare 2023, 11(11), 1609; https://doi.org/10.3390/healthcare11111609

“Epidermolysis Bullosa—A Kindler Syndrome Case Report and Short Literature Review”
by Bogdan Ioan Stefanescu, Diana Sabina Radaschin, Geta Mitrea, Lucretia Anghel, Adrian Beznea, Georgiana Bianca Constantin and Alin Laurentiu Tatu
Clin. Pract. 2023, 13(4), 873-880; https://doi.org/10.3390/clinpract13040079

“Blastic Plasmocytoid Dendritic Cell Neoplasm (BPDCN): Clinical Features and Histopathology with a Therapeutic Overview”
by Gerardo Cazzato, Marialessandra Capuzzolo, Emilio Bellitti, Giovanni De Biasi, Anna Colagrande, Katia Mangialardi, Francesco Gaudio and Giuseppe Ingravallo
Hematol. Rep. 2023, 15(4), 696-706; https://doi.org/10.3390/hematolrep15040070

“Changes in Hematologic Lab Measures Observed in Patients with Paroxysmal Nocturnal Hemoglobinuria Treated with C5 Inhibitors, Ravulizumab and Eculizumab: Real-World Evidence from a US Based EMR Network”
by Jesse Fishman, Seth Kuranz, Michael M. Yeh, Kaylen Brzozowski and Herman Che
Hematol. Rep. 2023, 15(2), 266-282; https://doi.org/10.3390/hematolrep15020027

“New-Generation Ektacytometry Study of Red Blood Cells in Different Hemoglobinopathies and Thalassemia”
by Elena Krishnevskaya, Marta Molero, Águeda Ancochea, Ines Hernández and Joan-Lluis Vives-Corrons
Thalass. Rep. 2023, 13(1), 70-76; https://doi.org/10.3390/thalassrep13010007

“Widespread and Long-Enduring Hyperkeratosis Lenticularis Perstans (Flegel’s Disease): Clinico-Pathological and Dermoscopic Features of a Rare Presentation”
by Giorgio Stabile, Giovanni Paolino, Nathalie Rizzo and Franco Rongioletti
Dermatopathology 2023, 10(1), 46-51; https://doi.org/10.3390/dermatopathology10010006

“Rare Variants of Dermatofibrosarcoma Protuberans: Clinical, Histologic, and Molecular Features and Diagnostic Pitfalls”
by Celestine M. Trinidad, Sintawat Wangsiricharoen, Victor G. Prieto and Phyu P. Aung
Dermatopathology 2023, 10(1), 54-62; https://doi.org/10.3390/dermatopathology10010008

“Repositioning Drugs for Rare Diseases Based on Biological Features and Computational Approaches”
by Belén Otero-Carrasco, Lucía Prieto Santamaría, Esther Ugarte Carro, Juan Pedro Caraça-Valente Hernández and Alejandro Rodríguez-González
Healthcare 2022, 10(9), 1784; https://doi.org/10.3390/healthcare10091784

	Innovative Therapies and Management of Complications in Hemoglobinopathies” Guest Editors: Dr. Sophia Delicou and Prof. Dr. Constantina Politis Submission deadline: 31 May 2025