Case report of dystrophic epidermolysis bullosa confirmed by genetic analysis

Danielius Serapinas; Egle Aukstuoliene; Marius Sukys

doi:10.5114/ms.2015.54760

eISSN: 2300-6722
ISSN: 1899-1874

Medical Studies/Studia Medyczne

Current issue Archive Manuscripts accepted About the journal Supplements Editorial board Abstracting and indexing Subscription Contact Instructions for authors Ethical standards and procedures

Editorial System

Submit your Manuscript

Editorial Policies

Sarajevo Declaration on Integrity and Visibility of Scholarly Publications

3/2015
vol. 31

Send email

Copy url:

abstract:

Case report

Case report of dystrophic epidermolysis bullosa confirmed by genetic analysis

Danielius Serapinas

,

Egle Aukstuoliene

,

Marius Sukys

Medical Studies/Studia Medyczne 2015; 31 (3): 200–202

DOI: https://doi.org/10.5114/ms.2015.54760

Online publish date: 2015/10/23

View full text Get citation

PlumX metrics:

Dystrophic epidermolysis bullosa is an inherited disease presenting with blistering of the skin in the subdermal layer caused by gene COL7A1 mutations. The authors reviewed a case of this disease determined by two mutations: dominant and recessive. The disease presented with blisters all over the patient’s body, mostly on the neck, back, and inguinal area, as well as on the hands and feet. The symptom that most affected the patient’s quality of life was severe blistering and ulceration in the pharynx, mucous membrane of the mouth, and perianal area. There is no effective treatment today, only procedures to relieve complications like oesophageal obstructions.

keywords:

Case report of dystrophic epidermolysis bullosa confirmed by genetic analysis

Danielius Serapinas , Egle Aukstuoliene , Marius Sukys

epidermolysis bullosa, mutation, COL7A1 gene

Danielius Serapinas

,

Egle Aukstuoliene

,

Marius Sukys