<abstract xmlns="http://www.w3.org/1999/xhtml"><p> 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.</p></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.

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

Serbian Journal of Dermatology and Venereology

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Inherited epidermolysis bullosa (IEB) is a genodermatosis transmitted in either autosomal dominant or autosomal recessive manner. The disease is characterized...

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

Pubblicato online: 05 dic 2018

Pagine: 12 - 17

DOI: https://doi.org/10.2478/sjdv-2018-0003

Parole chiave
Epidermolysis Bullosa Simplex, Skin Diseases, Genetic, Skin Diseases, Vesicobullous, Signs and Symptoms, Case Reports

© 2018 Ljuba Vujanović, et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

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

Pubblicato online: 05 dic 2018

Pagine: 12 - 17

DOI: https://doi.org/10.2478/sjdv-2018-0003

Parole chiaveEpidermolysis Bullosa Simplex, Skin Diseases, Genetic, Skin Diseases, Vesicobullous, Signs and Symptoms, Case Reports

© 2018 Ljuba Vujanović, et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Parole chiave
Epidermolysis Bullosa Simplex, Skin Diseases, Genetic, Skin Diseases, Vesicobullous, Signs and Symptoms, Case Reports