Ein Dutzend Ärzt*innen und mehr klappern manche Patient*innen mit Hauterkrankungen ab, bevor sie die richtige Diagnose bekommen. Bei Daniel Pohl dauerte diese Odyssee länger als zehn Jahre. Im Alter von 20 Jahren traten bei dem gebürtigen Linzer die ersten Symptome auf: An den Innenseiten der Oberschenkel bildeten sich Bläschen, die stark juckten. Auch andere Körperstellen waren bald betroffen. „Mir wurde gesagt, es handle sich um Ekzeme. Ich bekam verschiedene Salben verschrieben, von denen keine wirklich geholfen hat“,  erinnert sich der Patient. Im Kepler-Uniklinikum (KUK) Linz bekam der heute 44-Jährige endlich die richtige Diagnose: Morbus Darier.

Treatments are Often Unapproved
The story does not end there. Univ. Prof. Wolfram Hötzenecker, head of the Department of Dermatology and Venereology, remarked: "When it comes to many of types of rare skin disorders, very often, approved drugs are unavailable for treatment. In addition, pharmaceutical companies hardly conduct any research in this area because developing the drugs is often not financially lucrative."

In contrast to more common skin disorders, such as eczema, nail fungus or white skin cancer, these cases require individual solutions. He added that over the past decade, antibody treatments have provided a breakthrough in personalized medicine. "After a biopsy to remove tissue, the lab can determine the pattern of inflammatory messengers as because very often, skin disorders are inflammatory." In other cases, however, studies can be used to systematically study rare disorders and specifically in Linz, to take a closer look at Darier's disease: "So far, the results are promising." Daniel Pohl is also reaping the benefits. He can subcutaneously inject himself using the corresponding medication every three months, giving him hope for a life without rashes and itching.

Individual Treatment Testing
While antibodies are then used to treat the condition, they are often not approved for use when it comes to the disorder in question. In a university setting, however, experienced dermatologists may use these antibodies as part of so-called therapeutic trials, and sometimes with outstanding results. Antibodies that have already been approved for other disorders are often used, and their side effects, for example, can be predicted quite well. Hötzenecker stated: "These so-called off-label treatments are only permitted at the university. It not only takes experienced scientists who have the confidence to do this, but also ones who work with individual patients." After all, something that works for one person suffering from a particular disorder may not work for another. The dermatologist added: "Sometimes we have too few patients to conduct studies, or they cannot be financed."