epidermolysis bullosa simplex epidermolysis bullosa simplex epidermolysis bullosa simplex (ebs) is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.: 598 epidermolysis bullosa simplexepidermolysis bullosa simplexspecialtymedical genetics 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. blister formation of ebs occurs at the dermal-epidermal junction. 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. diagnosis classification epidermolysis bullosa simplex may be divided into multiple types: type locus & gene omim epidermolysis bullosa simplex with migratory circinate erythema 12q13 (krt5) 609352 epidermolysis bullosa simplex with mottled pigmentation. associated with a recurrent mutation in krt14.: 557 12q13 (krt5) 131960 epidermolysis bullosa simplex, autosomal recessive 17q12-q21 (krt14) 601001 generalized epidermolysis bullosa simplex 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.: 598 : 556 17q12-q21 (krt5), 12q13 (krt14) 131900 localized epidermolysis bullosa simplex also known as "weber–cockayne syndrome": 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.: 598 : 557 17q12-q21 (krt5), 17q11-qter, 12q13 (krt14) 131800 epidermolysis bullosa herpetiformis 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.: 598 : 557 17q12-q21 (krt5), 12q13 (krt14) 131760 epidermolysis bullosa simplex with muscular dystrophy a rare clinical entity, and is the only epidermolytic epidermolysis bullosa described that is not caused by a keratin mutation, presenting as a generalized intraepidermal blistering similar to the koebner variant of generalized epidermolysis bullosa simplex, but also associated with adult onset muscular dystrophy.: 598 : 557 8q24 (plec1) 226670 epidermolysis bullosa simplex with pyloric atresia 8q24 (plec1) 612138 epidermolysis bullosa simplex of ogna has onset in infancy, presenting with seasonal blistering on acral areas during summer months.: 598 : 557 8q24 (plec1) 131950 management no cure for eb treat symptoms protect skin, stop blister formation, promote healing prevent complications necessary treatment: use oral and topical steroid for healing and prevent complication maintain cool environment, avoid overheating and decreases friction