Why is it so difficult for GPs to effectively manage patients with rare skin diseases?

Rare diseases are defined by a prevalence of less than one out of 2000 persons. In clinical practice, their management is difficult, due to their diversity, their complexity and a lack of adapted physician training. The aims of this study were to identify rare skin diseases in a reference center, to describe the difficulties encountered by general practitioners (GPs) in management of these uncommon cases, and to pinpoint the characteristics of the GPs having the most problems. A survey conducted from March to June 2017 involving GPs at least one of whose rare skin disease patients was being monitored in a reference center. All in all, 96/195 (49.2%) of the GPs contacted completed the questionnaire, and virtually all of them (95%) reported five main categories of difficulties: giving a diagnosis, monitoring treatment, coordinating care, providing support, and ensuring management of intercurrent pathologies. The most widely reported difficulties were related to diagnosis (88.5%) and care coordination (76%). The GPs most in need of assistance were those practicing in rural areas (11 times more likely to experience difficulties), those with over 10 years of experience (up to 9.8 times more risk) and those not considering their role in the management of patients with rare diseases as instrumental (2.28 times more risk). This study brought to light the difficulties encountered by GPs in management of patients with rare skin diseases. We identified those the most in need of assistance, who are to be targeted for actions aimed at improving the care and treatment of patients suffering from rare skin diseases. Les maladies rares sont définies par une prévalence de moins de 1 pour 2000. Dans la pratique clinique, leur prise en charge est difficile, du fait de la diversité des maladies, de leur complexité et du manque d’entraînement des médecins. Identifier dans un centre de référence des maladies rares de la peau, les difficultés rencontrées par les médecins généralistes dans la prise en charge des patients, ainsi que les caractéristiques des médecins les plus en difficulté. Enquête menée de mars à juin 2017 auprès de médecins généralistes (MG) dont un patient atteint de maladie rare de la peau était suivi au centre de référence. Un total de 96 médecins (sur 195) ont répondu au questionnaire (49,2 %). La quasi-totalité (95 %) des médecins généralistes éprouvait des difficultés dans une des 5 catégories suivantes: établissement du diagnostic, suivi du traitement, coor