Hereditary epidermolysis bullosa: clinical-epidemiological profile of 278 patients at a tertiary hospital in São Paulo, Brazil

Abstract

Background: Epidermolysis bullosa (EB) is a group of rare hereditary diseases, characterized by fragility of the skin and mucous membranes. Epidemiological data on EB in Brazil are scarce.

Objectives: To describe epidemiological aspects of patients with EB diagnosed in the Dermatology Department of a tertiary hospital, from 2000 to 2022.

Methods: An observational and retrospective study was conducted through the analysis of medical records. The evaluated data included clinical form, sex, family history, consanguinity, age at diagnosis, current age, time of follow-up, comorbidities, histopathology and immunomapping, presence of EB nevi and squamous cell carcinomas (SCC), cause of and age at death.

Results: Of 309 patients with hereditary EB, 278 were included. The most common type was dystrophic EB (DEB), with 73% (28.4% dominant DEB, 31.7% recessive DEB and 12.9% pruriginous DEB). Other types were junctional EB with 9.4%, EB simplex with 16.5% and Kindler EB with 1.1%. Women accounted for 53% and men for 47% of cases. Family history was found in 35% and consanguinity in 11%. The mean age at diagnosis was 10.8 years and the current age was 26 years. The mean time of follow-up was nine years. Esophageal stenosis affected 14%, dental alterations affected 36%, malnutrition 13% and anemia 29%. During diagnostic investigation, 72.6% underwent histopathological examination and 92% underwent immunomapping. EB nevi were identified in 17%. Nine patients had SCC. Eleven patients died.

Study limitations: Insufficient data included to medical records, loss to follow-up, and unavailability of genetic testing.

Conclusions: In this study, dystrophic EB predominated and the need for multidisciplinary care for comorbidities and complications was highlighted.

Keywords: Brazil; Epidemiology; Epidermolysis bullosa; Epidermolysis bullosa dystrophica; Epidermolysis bullosa simplex; Epidermolysis bullosa, junctional; Tertiary healthcare.

Figure 1

Dominant dystrophic epidermolysis bullosa (DDEB). (A) Generalized form affecting the back. Healing of bullae leads to scarring. (B) Excoriated papules on the lower limbs in pruriginous DEB.

Figure 2

Recessive dystrophic epidermolysis bullosa (RDEB). (A) Bullae and ulcerated areas cause scarring and fibrosis. (B) Pseudosyndactyly of the hands, with fusion digits.

Figure 3

Junctional epidermolysis bullosa (JEB). (A) Dental enamel defects in the lower dental arch, with punctate depressions and yellowish color. In the upper dental arch it is possible to see laminated veneers (dental contact lenses). (B) Baby with skin fragility and denuded areas; other areas with granulation tissue and crusts.

Figure 4

Epidermolysis bullosa simplex (EBS). (A) Child with tense blisters, ulcerations and hematic crusts. Observe the involvement of friction sites (periaxillary region). (B) Healing bullae and erosions on the feet in the localized form of EBS.

Figure 5

Kindler epidermolysis bullosa (KEB). (A) Scarring lesions with mottled, hypo- and hyperpigmented macules in a child with KEB. (B) Poikiloderma on the face. Crusts and ulcerations on the lips. Teeth in poor condition.

Figure 6

(A) Epidermolysis bullosa nevus (EBN) on the elbow, in a patient with RDEB. (B) Extensive area with ulceration and exophytic lesions, with evolution to squamous cell carcinoma (SCC) on the foot.

Figure 7

Immunomapping of dominant dystrophic epidermolysis bullosa (DDEB). Observe cleavage in the sublamina densa, with marker deposition and fluorescence on the roof of the bullae. The markers used are: (A) Bullous pemphigoid antigen, (B) laminin, (C) collagen IV and (D) collagen VII.