Hubail Amal R, Belkharoeva Roza K, Tepluk Natalya P, Grabovskaya Olga V
Department of Skin and Venereal Diseases, I.M. Sechenov First Moscow State Medical University, Moscow, Russia,
Int J Gen Med. 2018 Nov 15;11:413-421. doi: 10.2147/IJGM.S180464. eCollection 2018.
The aim of this study was to evaluate the progression of a case of a patient with epidermolysis bullosa (EB) since early age who survived to adulthood, presenting with recurrent skin blisters and disfiguring scars and disabling musculoskeletal deformities.
EB is a rare group of inherited diseases that affect the skin fragility causing it to blister in response to even minor trauma. Established novel treatments are limited in the literature due to its rarity, and more research is needed to set a global management approach. Clinical manifestations range widely from localized to generalized blistering.
A rare case of EB surviving to adulthood despite the complications, which has been evaluated, treated during a relapse, and followed up.
The described case is of considerable clinical interest due to its rarity and severity. Optimal management requires a multidisciplinary approach and revolves around the protection of the skin against slightest injury, use of careful wound care dressings, aggressive nutritional support, and early medical or surgical interventions if needed to manage any complications. Prognosis varies considerably depending on each case.
本研究的目的是评估一例自幼年起患大疱性表皮松解症（EB）并存活至成年的患者的病情进展，该患者反复出现皮肤水疱、毁容性瘢痕以及致残性肌肉骨骼畸形。
EB是一组罕见的遗传性疾病，会影响皮肤的脆弱性，即使是轻微创伤也会导致皮肤起泡。由于其罕见性，文献中既定的新型治疗方法有限，需要更多研究来制定全球管理方法。临床表现范围广泛，从局部水疱到全身性水疱。
报告一例罕见的EB病例，该患者尽管出现并发症仍存活至成年，已对其进行评估、在复发时进行治疗并随访。
由于该病例罕见且严重，具有相当大的临床研究价值。最佳管理需要多学科方法，围绕保护皮肤免受最轻微损伤、使用精心的伤口护理敷料、积极的营养支持以及在需要时进行早期医疗或手术干预以处理任何并发症展开。预后因每个病例而异。
