Study on Junctional Epidermolysis Bullosa

Recent study by Laura Trefzer and team suggested that physicians and patients with moderate junctional epidermolysis bullosa (JEB) should be aware of the possibility of kidney–urinary tract (KUT) involvement. The findings of this study were published in the Journal of American Medical Association - Dermatology.

Patients with junctional epidermolysis bullosa experience significant morbidity from kidney-urinary tract symptoms, although the range of disease severity and the clinical course have not been well documented. This study was carried out in order to better understand the KUT symptoms, diagnostic and treatment approaches, genotype-phenotype correlations, and results in a large cohort of patients with intermediate JEB.

In this retrospective, longitudinal case series investigation, 99 individuals (50 male and 49 female) who were treated in a single dermatology department in Freiburg, Germany, who had been diagnosed with JEB based on clinical and genetic findings were evaluated over the course of 18 years (January 1, 2003, to December 31, 2021). From patients' medical records, laboratory, clinical, and molecular genetic characteristics were taken. Clinical traits, natural history, treatment of KUT symptoms, and genotype-phenotype correlations of intermediate JEB were regarded to be the main results.

Key Findings

• The prevalence was 15% overall, with no more than 15% of male patients (15 of 50) and 0% of female patients having KUT involvement impacting various levels of the urinary tract.
• The average age at which KUT symptoms first appeared was 6.9 years.
• After the diagnosis of KUT involvement, there was a median follow-up of 13 years.
• At least one missense or splice site genetic variation was present in patients with laminin 332 deficiency or integrin β4 deficit, resulting in remnant expression of laminin 332 or integrin α6β4, accordingly.
• The level of skin involvement did not correlate with the severity of KUT problems, but rather with the damaged protein.

Conclusion

Several recommendations may be made based on the results of this case study. Patients who are at risk should be warned and kept an eye out for KUT symptoms. If required, therapeutic actions to stop subsequent problems should be started. To reduce trauma, exploratory invasive urologic diagnostic testing should be avoided. A multidisciplinary team in a facility with competence in the diagnosis and treatment of epidermolysis bullosa should carry out invasive diagnostic or therapeutic procedures, and techniques, equipment, and materials should be customized for each patient. It is best to establish each patient's follow-up visit's time frame specifically. In order to provide broad suggestions, multicenter studies are necessary.

Reference

Trefzer, L., Schwieger-Briel, A., Nyström, A., Conradt, G., Pohl, M., Miernik, A., & Has, C. (2022). Kidney–Urinary Tract Involvement in Intermediate Junctional Epidermolysis Bullosa. In JAMA Dermatology. American Medical Association (AMA). https://doi.org/10.1001/jamadermatol.2022.2885