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Inherited Epidermolysis Bullosa – A Case Report of Several Family Members in Three Generations Cover

Inherited Epidermolysis Bullosa – A Case Report of Several Family Members in Three Generations

Open Access
|Dec 2018

Abstract

Inherited epidermolysis bullosa (IEB) is a genodermatosis transmitted in either autosomal dominant or autosomal recessive manner. The disease is characterized by the development of blisters, erosions, scars, nail dystrophy and scalp abnormalities. Our case report has included four members of one family in three generations with manifested disease. Our 25-year-old female patient presented with a few eroded, crusted, nummular lesions localized on the dorsal plate of interphalangeal joints of fingers, elbow and knee skin, while anonychia was found on her digits. Our youngest patient (her 3.5-year-old son) presented with the lesions in the form of blisters filled with serous fluid, erosions, recent scars and atrophy. Some atrophic scars on the elbow and knee skin were found in our patient′s younger brother, aged 16. The 46-year-old mother of our female patient had nail dystrophy on her hands accompanied by the toenails absence. Pediatric geneticist created the pedigree chart which showed autosomal dominant inheritance pattern with complete expressivity and penetrance. Further diagnostics was not done because the family was not interested.

Language: English
Page range: 12 - 17
Published on: Dec 5, 2018
Published by: Serbian Association of Dermatovenereologists (SAD)
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year

© 2018 Ljuba Vujanović, Marina Jovanović, Zoran Golušin, Svetlana Kovačić Dukić, Sanja Jakovljević, Miloš Nišavić, published by Serbian Association of Dermatovenereologists (SAD)
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.