Evaluation of long-term functional status and survival rates in patients diagnosed with epidermolysis bullosa and followed with hand findings

Epidermolysis Bullosa (EB) is a rare genetic disorder characterized by increased fragility of the skin and mucous membranes, leading to various symptoms and signs throughout the body. This condition significantly restricts the daily lives of affected individuals. While there is no definitive cure for this disease, the primary aim of treatment is to alleviate symptoms and improve the quality of life for those affected. Individuals with EB often experience flexion and extension contractures in their hands, wrists, and fingers, as well as adduction contractures of the thumb. These patients can develop open wounds during daily activities, which further hinders their ability to perform everyday tasks, thereby reducing their quality of life. Squamous cell carcinoma (YHK) is a malignant skin cancer that can develop from chronic wounds and metastasize via the lymphatic system. Given the continuous formation of wounds in EB patients due to their increased skin and mucosal fragility, some of these wounds become chronic, placing these individuals at a higher risk for developing YHK. At Akdeniz University Faculty of Medicine, a study was conducted between 2008 and 2023 involving 30 patients diagnosed with EB who underwent surgery for hand manifestations. Before surgery, patients were administered the EB-QoL and Abilhand Kids questionnaires, which were repeated post-surgery to evaluate the impact of the treatment on the lives of individuals with EB. The EB-QoL test showed a statistically significant reduction of 9.40±4.48 points in the total scale score after surgery compared to pre-surgery (p=0.001; p<0.01). Additionally, there was a statistically significant negative correlation of 56% between the post-surgery EB-QoL total score and the Abilhand Kids test total score (r=-0.560; p=0.001; p<0.01). During the study period, a total of 5 patients diagnosed with Epidermolysis Bullosa were found to have Squamous Cell Carcinoma (YHK) based on biopsies of open wounds on various parts of their bodies. Of these patients, 2 died due to complications related to Squamous Cell Carcinoma. Apart from these 2 patients, no other patients died from complications related to Epidermolysis Bullosa during the study period. Epidermolysis Bullosa is a rare genetic disease with no cure. Existing treatments focus on alleviating symptoms. Individuals with EB often live isolated from social life. This study is the first in our country to evaluate the impact of surgery on the lives, long-term hand functions, and survival of patients with hand manifestations of Epidermolysis Bullosa. Based on the data obtained from our study, we believe that surgical treatment for EB patients with hand manifestations has positive effects on their ability to perform daily activities and reduce social isolation. Key words: Epidermolysis Bullosa, Hand Findings, Contracture, Long-Term Functional Outcomes