Epidermolisis Bullosa (EB) is a rare hereditary disorder that its junctional type is very rare one that involves epithelium, however, genitourinary epithelium involvement occurs so rarely. The present case is 5-year old boy; a known case of junctional EB whom had recurrent urinary retention due to meatal and urethral stenosis that was deteriorated by therapeutically interventions.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4909504 | PMC |
| http://dx.doi.org/10.1016/j.eucr.2016.04.001 | DOI Listing |
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Introduction and objectives: epidermolysis bullosa (EB) is a rare genetic disease characterised by skin fragility with blisters and erosions on the skin and/or mucous membranes. People with EB often experience several extracutaneous manifestations, including clinical and health-related quality of life (HRQoL) complications. Herein, we evaluate their HRQoL and clinical severity and propose an objective criterion for estimating nutritional compromise using the Birmingham Epidermolysis Bullosa Severity Score (BEBS) tool.
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Article Synopsis
- Acquired epidermolysis bullosa is a rare autoimmune skin condition that affects children, characterized by autoantibodies against type VII collagen.
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- Treatment with corticosteroids and dapsone showed positive results, highlighting the importance of early diagnosis and timely intervention to prevent lasting damage.
Key Clinical Message: The presence of more than one genetic/genomic disorder is not uncommon. It is therefore essential to continuously consider new signs and symptoms over time. Administration of gene therapy could be extremely difficult in particular situations.
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