Emerging Therapies in Genodermatoses
摘要
Genodermatoses are a heterogeneous group of inherited skin diseases primarily manifesting in the skin and might be associated with systemic symptoms. The impact of the disease in untreated cases is life-long, with the symptoms varying in severity from subtle skin rash and chronic non-healing ulcers to life-threatening malignancies [1, 2]. The current practice in most of these conditions is limited to symptomatic relief, management of complications, and emphasis on patient education. However, there is a growing interest in developing long-lasting and curative therapy, especially with the advent of next-generation sequencing (NGS), which has improved our understanding of pathogenesis and paved the way for developing new therapeutic modalities [3, 4].