Multidisciplinary care for patients with epidermolysis bullosa from birth to adolescence: experience of one Italian reference center

Abstract

Background Epidermolysis bullosa (EB) is a disabling and chronic genodermatosis characterized by mucocutaneous fragility with blister formation after minimal trauma. Severity ranges between very mild forms to extremely severe or lethal subtypes. Depending on disease subtypes, blisters may be localized also in larynx, bladder, esophagus, and most frequent disease complications are malnutrition, chronic anemia, osteoporosis, limb contracture and early development of squamous cell carcinomas. EB is classified into four major groups: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler EB (KEB). No specific treatment is available; however, a multidisciplinary management is mandatory in order to treat the lesions, to prevent complication, and to give a psychological support to the patient and family members. Objective To report the experience on a therapeutic education plan of an Italian reference center for epidermolysis bullosa in the last 30 years. Methods In our study we included all patients with EB from 1990 to the present, dividing them into three age groups (< 5 years, > 5–12 years and > 12–18 years). The therapeutic plan involved all multidisciplinary team members, since born until adolescence. The multidisciplinary team has been progressively established; the dermatologists act as patient case manager, in collaboration with the pediatrician, endocrinologist, dietician, dentist, plastic surgeon, digestive surgeon, geneticist, psychologist and a dedicated nurse. Other dedicated specialists are involved upon patient needs. Results Two hundred fifteen patients have been recruited and followed in our hospital since 1990. One hundred forty patients (65%) are on follow-up, 27 patients (13%) died and only 11 (5%) were lost to follow-up. Our patients manifested the specific complications related to their EB subtype in keeping with the data reported in the literature. Eighteen (8%) patients affected with JEB severe died within the first year of life, 9 patients (5%) died for squamous cell carcinoma in adulthood and were affected with recessive DEB; only 1 patient died for squamous cell carcinoma at the age of 16. Conclusions An adequate management of EB patients require a multidisciplinary approach with an educational plan to guarantee an appropriate treatment and to support and accompany patients and their families since birth along life. The dynamic educational plan adopted in our hospital showed good clinical and psychological outcome in our population, allowing adherence to treatment, reducing the frequency of complications and improving life expectancy and quality of life.

Exploring a multi-disciplinary model of supportive cancer care for monoclonal antibody treatment-related dermatological symptoms

“…The third theme identified in the present study addressed the complexity and challenges of a multi-disciplinary setting of care, in which effective communication was believed to ensure integration with continuity of care. The multi-disciplinary approach in dermatology has been reported in a previous study of pediatric patients with epidermolysis bullosa, resulting in improved quality of life-related outcomes and greater adherence to treatment [ 10 ]. The multi-disciplinary approach requires a case manager, who may be one of the HCPs described in the present study, including the integrative physician with training and experience in supportive care.…”

Staphylococcal Infections and Neonatal Skin: Data from Literature and Suggestions for the Clinical Management from Four Challenging Patients

“…Based on the level of tissue separation and cleavage planes within the skin basement membrane, four major types of EB are currently described: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler EB (KEB). To date, no specific curative treatment exists for EB [ 26 ]. The prevention of new blisters development and accurate wound care represent the optimal therapeutic approach.…”

Advances for pediatricians in 2022: allergy, anesthesiology, cardiology, dermatology, endocrinology, gastroenterology, genetics, global health, infectious diseases, metabolism, neonatology, neurology, oncology, pulmonology

“…Epidermolysis bullosa is a chronic genodermatosis with different phenotypes and severity. Retrosi et al [31] reported on treatment in 3 groups of patients: < 5 years, > 5-12 years and > 12-18 years. In the first group, the family should change lifestyle and burden of caring on quality of life is high.…”