Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in the genes encoding
keratin 5 or
keratin 14.[1]: 598 [2]
Epidermolysis bullosa simplex (EBS) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily.[3] Blister formation of EBS occurs at the
dermal-epidermal junction.[4]
Signs and symptoms
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Cause
Epidermolysis bullosa simplex is caused by genetic mutations that prevent the proper formation of protein structures in the skin’s epidermis. This results in skin that blisters easily, from even minor insults. The affected genes, KRT5 and the KRT14, which are responsible for the creation of keratin 5 and keratin 14 proteins respectively, are tied to the four major types of epidermolysis bullosa simplex. However, a small number of epidermolysis bullosa simplex patients do not have mutations in their KRT5 and KRT14 genes. Mutations in the PLEC gene are also being researched, specifically in the gene’s role in the Ogna form of epidermolysis bullosa simplex. The PLEC gene is responsible for the formation of plectin, another skin protein that attaches the epidermis to the skin’s deeper layers.[5]
Diagnosis
Classification
Epidermolysis bullosa simplex may be divided into multiple types:
Also known as "Koebner variant of generalized epidermolysis bullosa simplex", presents at birth to early infancy with a predilection for the hands, feet, and extremities, and palmar-plantar hyperkeratosis and erosions may be present.[1]: 598 [6]: 556
Also known as "Weber–Cockayne syndrome"[8]: 460 and "Weber–Cockayne variant of generalized epidermolysis bullosa simplex", is characterized by onset in childhood or later in life, and is the most common variant of epidermolysis bullosa simplex.[1]: 598 [6]: 557
Also known as "Dowling-Meara epidermolysis bullosa simplex", presents at birth with a generalized distribution, often with oral mucosa involvement and variable lesions in infancy.[1]: 598 [6]: 557
^So, Jodi Y.; Teng, Joyce (1993), Adam, Margaret P.; Everman, David B.; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.),
"Epidermolysis Bullosa Simplex", GeneReviews®, Seattle (WA): University of Washington, Seattle,
PMID20301543, retrieved 2022-11-01
^
abcdefJames, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders.
ISBN0-7216-2921-0.
^Harel, A, et al. "Epidermolysis Bullosa Simplex with Mottled Pigmentation Resulting from a Recurrent Mutation in KRT14." Journal of Investigative Dermatology. (2006) 126, 1654–1657.
doi:
10.1038/sj.jid.5700296; published online 6 April 2006.
[1]
^
abcdRapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby.
ISBN978-1-4160-2999-1.