Taking care of patients with recessive dystrophic epidermolysis bullosa from birth to adulthood: a multidisciplinary Italian Delphi consensus.

Abstract

Background: Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and severe mucocutaneous fragility disorder due to mutations in the COL7A1 gene encoding collagen VII, the major constituent of anchoring fibrils essential for epithelial adhesion. RDEB is characterized by unremitting blistering, chronic painful wounds and fibrotic scarring that results in hand and foot pseudosyndactyly, microstomia, and esophageal strictures. RDEB complications include nutritional compromise, chronic anemia, failure to thrive, delayed puberty, osteoporosis, and renal involvement. In addition, early onset cutaneous squamous cell carcinomas (cSCC) represent the first cause of premature death. Despite recent progress in wound care, disease management still relies on symptomatic and preventive measures. No clinical practice guidelines specifically focused on the care of RDEB are currently available. The present multidisciplinary consensus recommendations were generated following a modified Delphi method with the aim to provide healthcare professionals with practical statements on RDEB management from birth to adulthood.

Results: Ten experts from six Italian EB reference centers developed 86 statements based on existing clinical practice guidelines and consensus recommendations for EB, literature data, and personal expertise. A multidisciplinary group of 30 members, representative of all major specialties relevant to RDEB management, participated to the anonymous online voting process. All statements reached consensus (> 75% agreement) at first voting round. Statements are divided into four major areas: (1) diagnosis, (2) neonatal age and infancy, (3) from childhood to adulthood, and (4) transversal age-independent issues, each of the last three comprising multiple domains of care. In particular, the section on patient care from childhood to adults deals with measures for management of wounds, gastrointestinal, eye and renal involvement, nutritional compromise, anemia, hand and foot deformities, cSCC, delayed puberty and osteoporosis, sexuality, pregnancy and delivery. Transversal issues comprise: pain and itch management, patient care in the operating theatre, physiotherapy and occupational therapy, therapeutic patient education and psychosocial support.

Conclusions: The proposed practical and synthetic recommendations cover all major issues in the management of patients with RDEB from birth to adulthood. They can represent a useful tool to support hospital healthcare personnel as well as primary care physicians in the complex multidisciplinary management of RDEB.