This section publishes translational and clinical research on a broad range of rare diseases (primarily genetic but also autoimmune, inflammatory, and infectious), characterized by the predominant involvement of skin and adnexa. Topics of interest range from research on disease aetiology, pathogenetic mechanisms, and disease modifiers, to studies on epidemiologic and diagnostic aspects of single disorders or disease groups, analyses of natural disease course, and descriptions of novel clinical features. A major focus is on all aspects of patient care, and particularly on recommendations for patient management. Review articles on specific diseases or disease groups are welcome.
Sirolimus is efficacious in treatment for extensive and/or complex slow-flow vascular malformations: a monocentric prospective phase II study
Extensive and complex vascular malformations often cause chronic pain and severe functional restraint. Conventional treatments, such as surgery and/or sclerotherapy, are rarely curative, underscoring the great...
Citation: Orphanet Journal of Rare Diseases 2018 13:191