- 2024, Volume 55 - Number 1
- Published: February 7, 2024
Pediatric epidermolysis bullosa – psychosocial impact and the importance of palliative care based on 5 clinical cases
Paula Guerra 1, Alice Porto-Guerra-Vasconcelos 2, Laura Leite-Almeida 3, Nuno Gomes 4, Alberto Mota 5, Irene Carvalho 3
1 Equipa Intra-Hospitalar de Suporte de Cuidados Paliativos Pediátricos da Unidade de Gestão Autónoma da Criança e da Mulher, Centro Hospitalar Universitário de São João; Unidade de Gastroenterologia e Nutrição Clinica Pediatrica, Unidade de Gestão Autónoma da Criança e da Mulher, Centro Hospitalar Universitário de São João; Faculdade de Medicina do Porto, Universidade do Porto; Porto, Portugal; 2 Serviço de Genética Médica, Centro Hospitalar Universitário de São João, Porto, Portugal; 3 Pediatria Hospitalar, Unidade de Gestão Autónoma da Criança e da Mulher, Centro Hospitalar Universitário de São João, Porto, Portugal; 4 Serviço de Dermatologia, Centro Hospitalar Universitário de São João, Porto, Portugal; 5 Faculdade de Medicina do Porto, Universidade do Porto; Serviço de Dermatologia, Centro Hospitalar Universitário de São João; CINTESIS@RISE. Porto, Portugal
Paula Guerra, Alice Porto-Guerra-Vasconcelos, Laura Leite-Almeida, Nuno Gomes, Alberto Mota, Irene Carvalho
La información completa de afiliaciones y autor de correspondencia está disponible en la versión original en PDF.
*Correspondence: Alberto Mota, Email not available
Abstract
Introduction and Objectives: Epidermolysis bullosa (EB) is a rare genodermatosis caused by pathogenic variants in several genes leading to epithelial fragility with blisters, erosions and ulcerations following minor trauma. Given the affection of any epithelial- lined organ, it can result in several complications. Our aim was to describe this disease’s psychosocial impact in pediatric patients. Methods: Case series of pediatric epidermolysis bullosa patients in a tertiary hospital between 2008-2023. Data collection was conducted retrospectively and quality of life assessment was obtained with a cross-sectional questionary. Results: We identified five unrelated patients, three of the female gender, aged 3 to 22 years old. All with neonatal symptoms. Genetic testing revealed pathogenic variants characteristic of dystrophic EB subtype in four and junctional EB subtype in one patient. Three patients were followed in psychology and psychiatry consultations. Four patients received pediatric palliative consultations. Three patients responded to quality-of-life questionnaires, two of them with a median score of PedsQL of 47% and one with a DLQI score of 17. Regarding complications, all patients had microcytic anemia requiring iron supplementation. Gastrointestinal symptoms included epigastric pain in three patients and esophageal stenosis needing gastrostomy in one patient. Poor weight gain was detected in four patients. Discussion and Conclusions: EB is a complex and heterogeneous disease. Pediatricians should be aware of the complications associated to this disease in order to provide early guidance. Palliative care with social, psychological and spiritual support for patients and their family are essential for the management of this disease.
