Editorial

Rare diseases represent a major challenge for affected patients, their relatives, physicians, nursing staff, and therapists. For medical and economic reasons, disease rarity complicates the research and medical care of affected patients. The Hollywood movie, “Lorenzo’s Oil”, touchingly illustrates the complex problems associated with orphan disease diagnostics, research, and therapy. Directed by George Miller, this film shows the true story of a boy named Lorenzo Michael Murphy Odone, who was diagnosed in 1984 at the age of 6 with the rare neural disease adrenoleukodystrophy (ALD). The movie highlights the manifold problems associated with rare diseases — a large number of which still exist today. However, especially in recent years, orphan diseases have been placed in the focus of public attention.

Stefan K. Plontke

Per definition, due to their prevalence, many typical diseases in the field of oto-rhino-laryngology rank among rare diseases, or at least have a manifestation in this field. The challenges are to keep these rare diseases in mind as possible diagnoses, and to use the available knowledge to follow the best steps for the management of these patients. This requires having knowledge about the diagnostics, available resources (such as centers, networks, and registries), particularities of the doctor–patient relationship and follow-up (including communication with family doctors), and the role of self-help and support groups. University medical professionals and the scientific society will have specific interest in the particularities of this field of research, including European networking and research funding, information management, public outreach, teaching and education, and regulatory aspects (orphan drugs).

Corresponding to the scientific motto of “rare disease” of the anniversary meeting of “100 years of the German Society of Oto-Rhino-Laryngology, Head and Neck Surgery”, this special issue deals with orphan diseases of our discipline. The article topics include rare diseases of the cochlea (Athanasia Warnecke and Anja Giesemann, Hannover); of the vestibular labyrinth (Julia Dlugaiczyk, Zürich); of the middle ear and the lateral skull base (Nora Magdalena Weiss, Rostock); of the nose, paranasal sinuses, and anterior skull base (Fabian Sommer, Ulm); of the orbita (Ulrich Kisser, Jens Heichel, and Alexander Glien, Halle/Saale); of the larynx, trachea, and thyroid (Stephan Hackenberg, Fabian Kraus, and Agmal Scherzad, Würzburg); of the neck, pharynx, and oral cavity (Christoph Reichel, München); and of the salivary glands and the facial nerve (Claudia Scherl, Mannheim).

These articles will undoubtedly provide interesting and entertaining aspects and news in the context of known and less-known diseases in the field of otorhinolaryngology, and will contribute ideas and suggestions for patient treatment.

With best wishes from Halle/Saale

Stefan K. Plontke
President of the German Society of
Otorhinolaryngology, Head and Neck Surgery

Publication History

Article published online:
30 April 2021