Palliative Care in Epidermolysis Bullosa: Beyond Skin
Margarida Camacho-Sampaio1*, Catarina Leuzinger-Dias1*, Ema Grilo2, Leonor Ramos3 and Candida Cancelinha2
1 Pediatrics, Unidade Local de Saúde de Coimbra, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal, +351 239 488 700
2 Pediatric Palliative Care team, Unidade Local de Saúde de Coimbra, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal, 351 239 488 700
3 Pediatric Dermatology Department, Unidade Local de Saúde de Coimbra, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
*First and Corresponding Authors: Margarida Camacho-Sampaio and Catarina Leuzinger-Dias. https://orcid.org/0009-0009-4576 5262; https://orcid.org/0009-0008-3941-1989
DOI: https://doi.org/10.58624/SVOAPD.2024.03.079
Received: August 09, 2024 Published: September 04, 2024
Abstract
Generalized severe junctional epidermolysis bullosa (JEB) is the rarest and most severe form of epidermolysis bullosa (EB), often leading to a 90% mortality rate within the first year of life. This case report describes a 35-week premature male infant diagnosed with JEB, and highlights the critical role of pediatric palliative care teams (PPCT) in managing complex clinical challenges. Initially treated for suspected bullous impetigo, JEB was confirmed through genetic testing at one month old. Patient presented with severe symptoms, including extensive mucocutaneous lesions, impaired wound healing, sepsis, anemia, protein loss, and failure to thrive. Despite pharmacological interventions, including albumin infusions, red blood cell transfusions, oral iron supplementation, IgG and plasma infusions, and rounds of antibiotics, the patient's condition deteriorated overtime. Following the JEB diagnosis, invasive procedures were withheld to prioritize comfort. Pain management was maintained with continuous morphine infusion and oral gabapentin until venous access was lost. Afterwards an oral-only analgesic regimen with morphine and transmucosal fentanyl provided relief, as transdermal or subcutaneous analgesia was not feasible due to extensive skin involvement. Patient died at two months old, one month after admission, and 48 hours after starting sedoanalgesia. This case underscores the importance of early PPCT involvement for symptomatic management and holistic support, highlighting the need for timely genetic diagnosis to guide care decisions. Despite significant challenges, the palliative approach effectively met the needs of the patient and family, emphasizing the value of compassionate care in the management of terminal conditions such as JEB.
Keywords: Epidermolysis Bullosa, Junctional; Palliative Care; Wound Healing; Referral and Consultation; Morbidity
Citation: Camacho-Sampaio M, Leuzinger-Dias C, Grilo E, Ramos L, Cancelinha C. Palliative Care in Epidermolysis Bullosa: Beyond Skin. SVOA Paediatrics 2024, 3:5, 137-140. doi:10.58624/SVOAPD.2024.03.079