Pretibial dystrophic epidermolysis bullosa

Abstract

Epidermolysis bullosa is a group of mechano-bullous genetic disorders caused by mutations in the genes encoding structural proteins of the skin. Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII, the main constituent of anchoring fibrils. In this group, there are autosomal dominant and recessive inheritances. The pre-tibial form is characterized by the presence of blisters, milia, atrophic scars and lesions similar to lichen planus. The diagnosis is clinical and laboratory and subtypes are distinguished by means of immunohistochemical and ultrastructural studies, in addition to genetic differentiation. Electron microscopy and immunomapping are used in the diagnosis.

An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease‐causing variants

“…Although EB is one of the most common inherited skin disorders, with a birth prevalence of 1.9/100000 in Europe, epidemiological and genetic data in Brazil are scarce. The few published studies from Brazilian EB patients usually consist of small samples or case reports, addressing mainly clinical data and rarely include genetic analysis . Our aim was to characterize the genetic basis of EB in Brazil, estimating the prevalence of recurrent and novel EB variants, using a next‐generation sequencing (NGS)‐based multigene panel.…”

“…The few published studies from Brazilian EB patients usually consist of small samples or case reports, addressing mainly clinical data and rarely include genetic analysis. [18][19][20][21] Our aim was to characterize the genetic basis of EB in Brazil, estimating the prevalence of recurrent and novel EB variants, using a next-generation sequencing (NGS)-based multigene panel.…”

“…40 Finally, Lucky et al found an efficiency of 97.7% T A B L E 1 Distribution of EB subtypes in patients included in this study Taking into account the number of EB patients in Brazil and that the vast majority of them do not have access to genetic testing, we consider to have achieved quite satisfactory results, including a great number of patients from the whole country.In total 72 pathogenic variants were identified, 15 of them associated to EBS, five to JEB and 52 to DEB. Although the majority of identified EB variants (52) were family specific, a few of them(20) were quite recurrent in Brazilian EB patients. The few previous reports of recessive EBS are usually caused by null alleles rather than missense variants 43.…”

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

“…Brazilian studies published so far comprise case reports and case series with clinical characterization and some include genetic analysis. 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 …”