Epidermolysis bullosa is a collection of a typical medical conditions that end in easy blistering of the skin and mucous membranes. Its severances can extent from mild to fatal. Children born with it are often called “butterfly children” because their skin seems as brittle as a butterfly wing. Epidermolysis bullosa was first identified in the late 1800s. Its association is with family of conditions called blistering diseases. There are the top five types of epidermolysis bullosa. Approximately 5,000 people have been affected by this disease in the UK. A positive family history raises the risk, based upon the type of inheritance and the closeness of affected relatives. All kinds of epidermolysis bullosa are genetic through the family so having a history of family or an impaired parent is a risk factor. Generally, signs of epidermolysis bullosa first arise in babies or toddlers. Painful skin and pustules are the major symptoms. Skin biopsy is prime. To make the diagnosis, immunofluorescence is necessary and also electromicroscopy. Treatment option includes minimizing friction, effusing blisters, maintaining a cool temperature, recognizing the signs of infection and maintaining a proper diet. The complications are anemia, oral cavities constipation, dehydration, dry skin, eye problem, infection, malnutrition, and skin cancer.
Fine JD, Raj E, Bauer E, et al. The classification of inherited Epidermolysis Bullosa (EB): report of the third international consensus meeting on diagnosis and classification of EB. J Am Acad Dermatol 2008,58:931–950. DOI: 10.1016/j.jaad.2008.02.004.
Weston WL, Lane AT, Morelli JG, editors. Color textbook of pediatric dermatology. 4th ed. Maryland Heights: Mosby/Elsevier, 2007, pp. 348–354.
Fine JD, Mellerio JE. Extra cutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues’. Am Acad Dermatol 2009;61(3):367–384. DOI: 10.1016/j.jaad.2009.03.052.
Pfendne EG, Bruckner A, Conget P, et al. Basic science of epidermolysis bullosa and diagnostic and molecular characterization: proceedings of the IInd international symposium on epidermolysis bullosa. Santiago, Chile, 2005. Int J Dermatol 2007;46(8):781–794. DOI: 10.1111/j.1365-4632.2007.03307.x.
Aziz Khan RG, Denyer JE, Mellerio JE, et al. Surgical management of epidermolysis bullosa: proceedings of the IInd international symposium on epidermolysis bullosa, Santiago, Chile, 2005. Int J Dermatol 2007:46(8):801–808. DOI: 10.1111/j.1365-4632.2007.03313.x.
Mellerio JE, Weiner M, Denyer JE, et al. Medical management of epidermolysis bullosa: proceedings of the IInd international symposium on epidermolysis bullosa, Santiago, Chile, 2005. Int J Dermatol 2007;46(8):795–800. DOI: 10.1111/j.1365-4632.2007.03316.x.
Lucky AW, Pfendner E, Pillay E, et al. Psychosocial aspects of epidermolysis bullosa: proceedings of the IInd international symposium on epidermolysis bullosa, Santiago, Chile, 2005. Int J Dermatol 2007;46(8):809–814. DOI: 10.1111/j.1365-4632.2007.03311.x.
Coulombe PA, Kerns ML, Fuchs E. Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility. J Clin Invest 2009;119(7):1784–1793. DOI: 10.1172/JCI38177.
Pfendner E, Rouan F, Uitto J. Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations. Exp Dermatol 2005;14(4):241–249. DOI: 10.1111/j.0906-6705.2005.00324.x.
Rugg EL, Leigh IM. The keratins and their disorders. Am J Med Genet C Semin Med Genet 2004;131C(1):4–11. DOI: 10.1002/ajmg.c.30029.
Castori M, Floriddia G, De Luca N, et al. Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population. Br J Dermatol 2008;158(1):38-44. DOI: 10.1111/j.1365-2133.2007.08208.x.
Has C, Liu L, Bolling MC, et al. Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa. Br J Dermatol 2020;182(3):574–592. DOI: 10.1111/bjd.18128.
Pulkkinen L, Uitto J. Mutation analysis and molecular genetics of epidermolysis bullosa. Matrix Biol 1999;18(1):29–42. DOI: 10.1016/s0945-053x(98)00005-5.
Varki R, Sadowski S, Pfendner E, et al. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. J Med Genet 2006;43(8):641–652. DOI: 10.1136/jmg.2005.039685.
Charlesworth A, Chiaverini C, Chevrant-Breton J, et al. Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. Br J Dermatol 2013;168(4):808–814. DOI: 10.1111/bjd.12202.