Correlation between nutritional, hematological and infectious characteristics and classification of the type of epidermolysis bullosa of patients assisted at the Dermatology Clinic of the Hospital Universitário de Brasília

Abstract

Epidermolysis bullosa comprises a group of phenotypically different genodermatosis, hereditary or acquired, characterized by skin fragility and subsequent formation of blisters in response to mechanical trauma, and which may also affect mucous membranes. This study aimed to analyze the relation between the nutritional, hematologic, infectious characteristics and the type of epidermolysis bullosa, through a descriptive case study based on data from medical records of 10 patients with epidermolysis bullosa assisted regularly at the Dermatology Clinic of the Hospital Universitário de Brasília. The old classification of the type of epidermolysis bullosa, weight and height, blood count, white blood cell count, platelet count and description of the type and frequency of secondary infections during the service were considered. We verified a predominance of iron deficiency anemia, chronic leukocytosis, thrombocytosis, chronic malnutrition, low height for age and thinness, and people with epidermolysis bullosa simplex exhibited appropriate relation between height/age and BMI/age. The non-specific skin infection was the most prevalent in both sexes. The severity of the type of epidermolysis bullosa and frequency of secondary infections did not form a directly proportional relation. The absence of direct proportion in all cases between the type of epidermolysis bullosa and the analysis parameters suggest a possible significant interference from other aspects such as the extent of the affected skin area, extracutaneous type of engagement and specific genetic mutation. The inclusion of these factors in the new classification proposed by Fine et al can contribute significantly to a better correlation of clinical parameters and appropriate preventive and therapeutic approaches.

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.…”

Di̇strofi̇k Epi̇dermoli̇zi̇s Büllozada Laparoskopi̇k Apendektomi̇: Mi̇ni̇mal İnvazi̇v Gi̇ri̇şi̇mi̇n Avantajlari

“…Preoperative and postoperative interventions have to be planned to cause minimal trauma and infection to the skin and preference for a less invasive laparoscopic approach is the approach that can reduce complications in such cases. (2)(3)(4). Bu hasta grubunda cerrahi girişim planlanırken, yapılacak insizyonun yeri, yaranın temiz, kontamine, kirli veya enfekte olması durumunda ortaya çıkacak muhtemel bül enfeksiyonları dikkate alınmalıdır.…”

Cuidados de enfermagem a neonato com epidermólise bolhosa: relato de caso

“…Epidermolysis bullosa (EB) is a group of phenotypically different, hereditary or acquired genodermatoses characterized by skin fragility and subsequent blistering in response to mechanical trauma, which can also affect the mucous membranes. Due to the severe forms of the disease and its high risk of infection, the neonatal mortality rate is high (1) .…”