Epidermolysis bullosa Associated with Type 1 Diabetes Mellitus - Case Report of a Lethal Disease

Claudia Jurca,Alexandru Jurca,Marius Bembea,Kinga Kozma,Alfred Klausegger,Ariana Szilagyi

doi:10.21767/2380-7245.100176

Abstract

We present a rare lethal case of a dystrophic form of epidermolysis bullosa (EB) associated with type 1 diabetes mellitus in a 5-year-old boy diagnosed with EB at birth. This association has not been reported before. Two well-known mutations in the collagen COL7A1 gene (compound heterozygous: c.425A>G in exon 3 and c. 2005C>T in exon 15) were determined as cause of EB. Whether the association with diabetes mellitus type 1was causally related remained undetermined. We also discuss the therapeutic difficulties resulting from this association.

Highlights

Epidermolysis bullosa (EB) is a heterogeneous group of diseases characterized by blisters of the skin and mucosal membranes ranging from mild to lethal [1]
EB is classified into three categories according to the level where blisters are formed: simplex EB - blisters formed on the basal layer; junctional EB - blisters formed in the lamina lucida; dystrophic EB (DEB) - blisters formed in dense lamina [4]
The dystrophic form of EB described here is an autosomal recessive disease caused by mutations in the gene COL7A1 located on chromosome 3p21.31 (Gene MIM number 120120)

Summary

Introduction

Epidermolysis bullosa (EB) is a heterogeneous group of diseases characterized by blisters of the skin and mucosal membranes ranging from mild to lethal [1]. It results from an anchoring defect between the epidermis and dermis, resulting in friction and skin fragility [2] About 30 genetically different types share, as a common feature, this mechanical fragility of epithelial tissues, most notably the skin [3]. The diagnosis of EB was based on the characteristic clinical signs present at birth: bullous blistering formation occurring immediately after birth, in areas exposed to mechanical and even minor trauma. Of 134-615 mg/dl (reference values 60-99 mg/dl), glycosuria (2+), ketonuria (2+), metabolic acidosis pH 7.22 (ref. pH 7.35-7.45), glycated hemoglobin (14%); islet cells antibodies and insulin antibodies were present

Results

Discussion

Conclusion