Hanisch Marcel, Jung Susanne, Kleinheinz Johannes
Klinik für Mund‑, Kiefer- und Gesichtschirurgie, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude W30, 48149, Münster, Deutschland.
Internist (Berl). 2018 Sep;59(9):972-980. doi: 10.1007/s00108-018-0464-8.
In 2013, a national action plan for people with rare diseases (Nationaler Aktionsplan für Menschen mit Seltenen Erkrankungen, NAMSE) was adopted in the Federal Republic of Germany which is currently in the implementation phase. People with rare diseases are often confronted with huge difficulties in the diagnosis and therapy, and being repeatedly misdiagnosed also leads to psychological stress for those affected and their families. Of the up to 8000 rare diseases, about 15% can manifest in the orofacial region and thus give an indication of the underlying disease. A look in the oral cavity or consultative support to determine the cause of symptoms in the oral and maxillofacial region can possibly help the specialists in internal medicine to find the appropriate diagnosis.
2013年，德意志联邦共和国通过了一项罕见病患者国家行动计划（Nationaler Aktionsplan für Menschen mit Seltenen Erkrankungen，NAMSE），目前该计划正处于实施阶段。罕见病患者在诊断和治疗方面常常面临巨大困难，反复误诊也会给患者及其家人带来心理压力。在多达8000种罕见病中，约15%可在口面部区域表现出来，从而提示潜在疾病。检查口腔或提供咨询支持以确定口腔颌面部症状的原因，可能有助于内科专家做出正确诊断。
