Epidermolysis bullosa
| Subclass of | vesiculobullous skin disease  |
|---|---|
| Health specialty | medical genetics |
| Drug or therapy used for treatment | phenytoin |
| External data available at URL | http://www.nanbyou.or.jp/entry/5338 |
| ICD-9-CM | 757.39 |
Epidermolysis bullosa (EB) be a group of rare medical conditions wey dey result in easy blistering of de skin den mucous membranes. Blisters dey occur plus minor trauma anaa friction wey be painful. Ein severity fi range from mild to fatal.[1] Inherited EB be a rare disease plus a prevalence insyd de United States of 8.2 per million live births.[2] Those plus mild cases no fi develop symptoms til dem start to crawl anaa walk. Complications fi include esophageal narrowing, squamous cell skin cancer, den de need for amputations.
EB be secof a mutation insyd at least one of 16 different genes. Sam types be autosomal dominant while odas be autosomal recessive.[3] De underlying mechanism be a defect in attachment between anaa within de layers of de skin. Loss anaa diminished function of type VII collagen dey lead to weakness insyd de structural architecture of de dermal–epidermal junction (DEJ) den mucosal membranes.[4] Der be four main types: epidermolysis bullosa simplex (EBS), dystrophic epidermolysis bullosa (DEB), junctional epidermolysis bullosa (JEB), den Kindler syndrome. De diagnosis be suspected based on symptoms wey be confirmed by skin biopsy anaa genetic testing.
Der be no cure give de condition. Management dey involve wound care, pain control, controlling infections, nutritional support, den prevention den treatment of complications.[5] About half a million people be affected globally.[6] E dey occur equally commonly insyd males den females.[7]
References
[edit | edit source]- ↑ Bardhan, Ajoy; Bruckner-Tuderman, Leena; Chapple, Iain L. C.; Fine, Jo-David; Harper, Natasha; Has, Cristina; Magin, Thomas M.; Marinkovich, M. Peter; Marshall, John F.; McGrath, John A.; Mellerio, Jemima E. (24 September 2020). "Epidermolysis bullosa". Nature Reviews Disease Primers (in English). 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X. PMID 32973163. S2CID 221861310. Archived from the original on 18 November 2020. Retrieved 26 September 2020.
- ↑ FINE, JO-DAVID; JOHNSON, LORRAINE B.; WEINER, MADELINE; STEIN, AMY; CASH, SARAH; DeLEOZ, JOY; DEVRIES, DAVID T.; SUCHINDRAN, CHIRAYATH (November 2004). "Genitourinary Complications of Inherited Epidermolysis Bullosa: Experience of the National Epidermylosis Bullosa Registry and Review of the Literature". Journal of Urology. 172 (5): 2040–2044. doi:10.1097/01.ju.0000143200.86683.2c. PMID 15540785.
- ↑ "Epidermolysis bullosa". rarediseases.info.nih.gov (in English). Archived from the original on 16 May 2018. Retrieved 16 May 2018.
- ↑ Vanden Oever, Michael; Twaroski, Kirk; Osborn, Mark J; Wagner, John E; Tolar, Jakub (1 November 2017). "Inside out: regenerative medicine for recessive dystrophic epidermolysis bullosa". Pediatric Research. 83 (1–2): 318–324. doi:10.1038/pr.2017.244. ISSN 0031-3998. PMID 29593249. S2CID 4447720.
- ↑ Bardhan, Ajoy; Bruckner-Tuderman, Leena; Chapple, Iain L. C.; Fine, Jo-David; Harper, Natasha; Has, Cristina; Magin, Thomas M.; Marinkovich, M. Peter; Marshall, John F.; McGrath, John A.; Mellerio, Jemima E. (24 September 2020). "Epidermolysis bullosa". Nature Reviews Disease Primers (in English). 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X. PMID 32973163. S2CID 221861310. Archived from the original on 18 November 2020. Retrieved 26 September 2020.
- ↑ Tabor, A; Pergolizzi JV, Jr; Marti, G; Harmon, J; Cohen, B; Lequang, JA (May 2017). "Raising Awareness Among Healthcare Providers about Epidermolysis Bullosa and Advancing Toward a Cure". The Journal of Clinical and Aesthetic Dermatology. 10 (5): 36–48. PMC 5479476. PMID 28670357.
- ↑ "Epidermolysis Bullosa". National Institute of Arthritis and Musculoskeletal and Skin Diseases (in English). 11 April 2017. Archived from the original on 4 October 2017. Retrieved 16 May 2018.
External links
[edit | edit source]
- GeneReviews/NCBI/UW/NIH entry on Epidermolysis Bullosa Simplex
- Questions and Answers about Epidermolysis Bullosa - US National Institute of Arthritis and Musculoskeletal and Skin Diseases
