ISSN: 2578-4838
Authors: Calheiros-Cruz T, Novo-DomÃnguez A, Cameselle-Cortizo L, Villar- Fernández B, Charro-Gamallo ME, Cortizo-Torres ME, Ruibal-Azevedo J, Chapela-Villa C, Otero-González R, MartÃnez MartÃnez M and Cameselle-Teijeiro JF*
Epidermolysis bullosa (EB) is a rare group of disorders, clinically and genetically heterogeneus, characterized by an extreme mucosal fragility that predisposes patients to the development of blisters induced spontaneously or after mimimal contact or friction. These genodermatoses are caused by defects in the proteins involved in the dermoepidermal junction. Currently, more than 1000 mutations and over 20 genes have been identified as responsible for these disorders, with over 30 phenotypically distinct subtypes of EB currently identified. Here, we describe the clinical case of a 37 years old male, diagnosed genetically at age 2 months with inherited epidermolysis bullosa, dystrophic subtype. The results of this study have revealed an alteration in the structural protein type VII collagen, caused by a recessive mutation in the CLO7A1 gene, located in chromosome 3p21.1 In this report we also provide information about the clinical manifestations of each EB major type and subtype, and current recommendations on diagnosis. With the intention of giving visibility to these disorders, we have created a medical documentary entitled “Inherited Epidermolysis Bullosa†that can be seen on you tube at (poner enlace aqui).
Keywords: Inherited Epidermolysis Bullosa; Inherited Epidermolysis Bullosa Classification, Epidermolysis Bullosa Simplex; Epidermolysis Bullosa Junctional; Eepidermolysis Bullosa Dystrophic; Kindler Syndrome; Genetic Diagnosis; Prenatal Diagnosis; Preimplantation Diagnosis
