Rare medical conditions that result in easy blistering of the skin and mucous membranes
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Medical condition
Epidermolysis bullosa
Other names
Butterfly children[1]
A five-year-old boy displaying characteristic blisters of epidermolysis bullosa
Wound care, pain control, controlling infections, nutritional support[2]
Prognosis
Death usually occurs during early adulthood
Frequency
around 1 in 500,000[5]
Epidermolysis bullosa (EB) is a group of rare medical conditions that result in easy blistering of the skin and mucous membranes. Blisters occur with minor trauma or friction and are painful. Its severity can range from mild to fatal.[7] Inherited EB is a rare disease with a prevalence in the United States of 8.2 per million live births.[8] Those with mild cases may not develop symptoms until they start to crawl or walk. Complications may include esophageal narrowing, squamous cell skin cancer, and the need for amputations.[medical citation needed]
EB is due to a mutation in at least one of 16 different genes. Some types are autosomal dominant while others are autosomal recessive.[2] The underlying mechanism is a defect in attachment between or within the layers of the skin. Loss or diminished function of type VII collagen leads to weakness in the structural architecture of the dermal–epidermal junction (DEJ) and mucosal membranes.[9] There are four main types: epidermolysis bullosa simplex (EBS), dystrophic epidermolysis bullosa (DEB), junctional epidermolysis bullosa (JEB), and Kindler syndrome. The diagnosis is suspected based on symptoms and confirmed by skin biopsy or genetic testing.
There is no cure for the condition. Management involves wound care, pain control, controlling infections, nutritional support, and prevention and treatment of complications.[7] About half a million people are affected globally.[5] It occurs equally commonly in males and females.[10]
^Fine, Jo-David; Hintner, Helmut (2009). Life with Epidermolysis Bullosa (EB): Etiology, Diagnosis, Multidisciplinary Care and Therapy. Springer Science & Business Media. p. 242. ISBN 9783211792711. Archived from the original on 3 November 2021. Retrieved 21 November 2020.
^ abcde"Epidermolysis bullosa". rarediseases.info.nih.gov. Archived from the original on 16 May 2018. Retrieved 16 May 2018.
^"Epidermolysis Bullosa". National Institute of Arthritis and Musculoskeletal and Skin Diseases. 11 April 2017. Archived from the original on 4 October 2017. Retrieved 16 May 2018.
^"Epidermolysis Bullosa". National Institute of Arthritis and Musculoskeletal and Skin Diseases. 11 April 2017. Archived from the original on 4 October 2017. Retrieved 16 May 2018.
^ abcdefTabor, 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. 11 April 2017. Archived from the original on 4 October 2017. Retrieved 16 May 2018.
^ abBardhan, 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. 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.
^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.
^"Epidermolysis Bullosa". National Institute of Arthritis and Musculoskeletal and Skin Diseases. 11 April 2017. Archived from the original on 4 October 2017. Retrieved 16 May 2018.
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