Osipowicz Katarzyna, Wychowanski Piotr, Nieckula Pawel, Shamsa Sara, Wertheim-Tysarowska Katarzyna, Wozniak Katarzyna, Kowalewski Cezary
Department of Dermatology and Immunodermatology, Medical University of Warsaw, Warsaw, Poland.
Department of Department of Oral Surgery, Medical University of Warsaw, Warsaw, Poland.
Postepy Dermatol Alergol. 2021 Dec;38(6):979-984. doi: 10.5114/ada.2020.97072. Epub 2020 Jul 14.
Epidermolysis bullosa (EB) is a rare genetic skin disorder inherited either in autosomal recessive (AR) or autosomal dominant (AD) manner and characterized by blistering of the skin and mucous membranes. According to a subtype of EB, the oral manifestations and dental involvement vary in frequency and in severity. The most severe dental problems occur in patients with junctional epidermolysis bullosa (JEB) and severe generalized dystrophic epidermolysis bullosa (RDEB) and involve enamel erosion and development of blisters followed by painful oral wounds. Oral mucosa lesions decrease patients' quality of life and may contribute to difficulties in nutrition leading to cachexia.
Assessment of efficacy of gentamicin 0.3% solution in the healing and preventing of oral erosions in patients with RDEB and evaluating its impact on the expression of type VII collagen.
The study included four female patients with RDEB, aged 16-42 who show different mutations in the gene and were administered the mouth rinse two times daily with a solution of 0.3% gentamycin for 4 consecutive weeks. Prior to and at the end of the study, the samples from oral mucosa were collected to estimate the expression of type VII collagen by immunofluorescence test.
The clinical improvement of oral wounds healing and reduced number of new blisters and mucous membrane soreness as well as partial re-expression of type VII collagen was observed in all studied patients.
Topical gentamicin therapy of oral cavity in RDEB patients resulted in clinical improvement of mucosal lesions and re-expression of collagen type VII.
大疱性表皮松解症（EB）是一种罕见的遗传性皮肤病，以常染色体隐性（AR）或常染色体显性（AD）方式遗传，其特征为皮肤和黏膜出现水疱。根据EB的亚型不同，口腔表现和牙齿受累情况在频率和严重程度上有所差异。最严重的牙齿问题发生在交界性大疱性表皮松解症（JEB）和严重泛发性营养不良型大疱性表皮松解症（RDEB）患者中，表现为牙釉质侵蚀、水疱形成，随后出现疼痛的口腔伤口。口腔黏膜病变会降低患者的生活质量，并可能导致营养困难，进而引发恶病质。
评估0.3%庆大霉素溶液对RDEB患者口腔糜烂愈合和预防的疗效，并评估其对VII型胶原蛋白表达的影响。
该研究纳入了4名年龄在16至42岁之间的RDEB女性患者，她们在基因上表现出不同的突变，连续4周每天用0.3%庆大霉素溶液漱口两次。在研究开始前和结束时，采集口腔黏膜样本，通过免疫荧光试验估计VII型胶原蛋白的表达。
在所有研究患者中均观察到口腔伤口愈合的临床改善、新水疱数量和黏膜疼痛减少，以及VII型胶原蛋白的部分重新表达。
RDEB患者口腔局部应用庆大霉素治疗可使黏膜病变得到临床改善，并使VII型胶原蛋白重新表达。
