Abstract

D’AMATO-GUTIERREZ, M et al. Case Report. Hereditary dystrophic Epidermolysis Bullosa in newborn twins. Medellín, Colombia. Rev. argent. dermatol. [online]. 2019, vol.100, n.2, pp.51-60. ISSN 1851-300X.

We present the case of two female patients from a dichorionic diamniotic twin pregnancy with diagnosis of congenital dystrophic epidermolysis bullosa at Clinica Universitaria Bolivariana, Medellín, Colombia. Molecular genetic testing confirmed a pathogenic mutation in the gene COL7A, a variant previously not reported and also called the Hallopeau-Siemens variant.

Patients were followed by an interdisciplinary medical team focusing on prevention of new lesions, complications, and pain management.

Because of the severity of the lesions and associated complications one of the patients died, the other one is 8-months-old without severe complications and well nutritional status.

In these patients, treatment of skin lesions is the mainstay to reduce morbidity and mortality. The main purpose of this report is to provide information so that health professionals know the disease and it can be diagnosed opportunely and thus provide supportive treatment to patients and their families; and also sensitize health providers about one of the diseases listed as orphan or rare in our country.

Keywords : Epidermolysis; Bullosa; Dystrophic; Epidermolysis; Bullosa; Blister; Epithelium; Dermatology.