The three major forms are eb simplex, junctional eb, and dystrophic eb. Ellis 2 departments of 1 radiology and 2 dermatology, university hospital, university of michigan medical center, ann. Epidermolysis bullosa eb is a group of inherited bullous disorders characterized by blister formation in response to mechanical trauma. The following explains how to get an accurate diagnosis, what treatment may involve, and the prognosis for a child born with eb. Epidermolysis bullosa dystrophica inversa j clin exp invest. Dystrophic scarring results from repeated blistering and serves as a clinical marker of these diseases. Epidermolysis bullosa eb is a group of genetic skin diseases that cause the skin to blister and erode very easily. It was originally described in 1895 as nonhereditary epidermolysis bullosa due to its clinical similarity to hereditary dystrophic epidermolysis bullosa. In some subtypes, blisters may also occur on internal organs, such as the oesophagus, stomach and. Any trauma or friction to the skin can cause painful blisters. Most frequently it is genetically determined and congenital although there is an acquired variety. Almost all subjects affected with the severe recessive dystrophic eb rdeb subtype suffer from early and extremely aggressive sccs rdeb.
If your child has eb, youll often see signs of this disease, such as blistering or missing skin, when your child is born. The most common types are epidermolysis bullosa simplex, junctional epidermolysis bullosa, and dystrophic epidermolysis bullosa. Epidermolysis bullosa is a rare disease with multiple oral manifestations that require a special approach in terms of dental care 12. Pdf epidermolysis bullosa eb consists of a group of genetic hereditary disorders in which patients frequently present fragile skin and mucosa that. Autosomal recessive epidermolysis bullosa dystrophica 226600 is an. Eight patients with epidermolysis bullosa dystrophica recessive and dysphagia were studied. Epidermolysis bullosa is classified into four major categories.
Dystrophic epidermolysis bullosa deb is a genetic skin disorder affecting skin and nails that usually presents at birth. In recent decades, an association has been reported between epidermolysis bullosa eb and dilated cardiomyopathy dc. Learn more about the symptoms, causes, diagnosis, and treatment of epidermolysis bullosa. Parental consanguinity was established in fourteen 87. Epidermolysis bullosa eb is a group of inherited diseases that are characterised by blistering lesions on the skin and mucous membranes. Epidermolysis bullosa acquisita eba is an acquired blistering disease of the skin and mucous membranes, which usually begins in adulthood. These may occur anywhere on the body but most commonly appear at sites of friction and minor trauma such as the feet and hands. The cases presented in this report are of his third or hypoplastic dystrophic type 25 per cent of all cases, which is transmitted by. In people with eb, blisters form in response to minor injuries or friction, such as rubbing or scratching. Clinical and roentgenographic manifestations farooq p. Anesthetic implications in epidermolysis bullosa dystrophica.
Many different subtypes have been identified but the most common variant we see in our patient population is recessive dystrophic eb. Studies on the pathogenesis of epidermolysis bullosa. Cases are described to illustrate that dysphagia may be reversible when caused by bullae formation or permanent when caused by strictures in the esophagus. Updated recommendations on diagnosis and classification. Epidermolysis bullosa cause the skin to be very fragile and to blister easily. Epidermolysis bullosa is a family of bullous disorders caused by an absence of basement membrane components due to underlying gene mutations. Dystrophic epidermolysis bullosa deb is one of the major forms of. In ebs the weakened structures are within the epidermis itself. Epidermolysis bullosa dystrophica, recessive type biopsy specimens were obtained from five patients with this disease. Specific genetic mutations are well characterized for most the different eb subtypes and variants.
Two of the five patients blistered so readily that the trauma of biopsy was sufficient to produce gross dermalepidermal separation. Epidermolysis bullosa eb consists of a group of genetic hereditary disorders in which patients frequently present fragile skin and mucosa that form blisters. These can range in severity from mild blistering to more disfiguring and lifethreatening disease. Dystrophic epidermolysis bullosa deb is a form of inherited epidermolysis bullosa eb characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and. An electron microscopic study of mendes da costas disease mcd has been undertaken to determine whether this disease is a variant of epidermolysis bullosa dystrophica, or should be classified as. Epidermolysis bullosa is a group of diseases produced by one or more mutations in at least one of 20 different genes. Epidermolysis bullosa symptoms and causes mayo clinic. Epidermolysis bullosa dystrophica ebd is a heterogeneous group of inherited mechanobullous diseases that produce separation in the deep portion of the basement membrane zone beneath the lamina densa dermolytic separation 1, 2 figure 16. Dystrophic epidermolysis bullosa deb is a form of inherited epidermolysis bullosa eb characterized by. Epidermolysis bullosa eb is a rare group of inherited disorders that manifests as blistering or erosion of the skin and, in some cases, the epithelial lining of other organs, in response to little or no apparent trauma.
Sorsby 4 described three principal types of this disease. Epidermolysis bullosa simplex genetics home reference nih. Epidermolysis bullosa epihdurmoluhsis buhlloesah is a group of rare diseases that cause fragile, blistering skin. Epidermolysis bullosa eb is a term for a group of conditions associated with abnormalities of the basement membrane zone of skin and mucous membranes. Dystrophic epidermolysis bullosa is one of the major forms of a group of conditions called epidermolysis bullosa. The blisters may appear in response to minor injury, even from heat, rubbing, scratching or adhesive tape. Dental management of patients with epidermolysis bullosa.
Epidermolysis bullosaassociated squamous cell carcinoma mdpi. Epidermolysis bullosa is a rare hereditary skin disease, in which slight trauma disrupts the cohesion between the epidermis and the dermis, resulting in the formation of vesicles, bullae, and ulcers. Patients with epidermolysis bullosa dystrophica ebd tend to develop epidermal neoplasms, usually lowgrade squamous cell carcinoma of the skin and less commonly that of the mouth. Epidermolysis bullosa dystrophica with blulosa neoplasm. Dystrophic epidermolysis bullosa is a rare inherited blistering disorder caused by mutations in the col7a1 gene encoding type vii collagen. Epidermolysis bullosa is a rare and painful skin disorder has no cure. Pdf epidermolysis bullosa dystrophica researchgate. Epidermolysis bullosa eb is a group of inherited bullous disorders characterized by blister. For patients, families and friends, a diagnosis of epidermolysis bullosa carries with it great uncertainty. Sixteen cases of epidermolysis bullosa were found in this series, ten 62. Anesthetic implications in epidermolysis bullosa dystrophica theresa l. It originated because of the need for awareness and help of those who suffer from the disease epidermolysis bullosa also known as eb. Blistering may be relatively mild with epidermolysis bullosa simplex.
Dystrophic eb deb dystrophic eb is characterised by a lack of adhesion of the skin under the. Nutritional support for children with epidermolysis bullosa. Treatment focuses on caring for blisters and preventing new ones. Get a printable copy pdf file of the complete article 474k, or click on a page image below to browse page by page. Pdf death from colonic disease in epidermolysis bullosa. The discussion of gastrointestinal manifestations in epidermolysis bullosa dystrophica recessive. There have been 21 reported cases in the literature, and we are adding seven new cases and providing a. More than 20 subtypes of eb have been recognized in the literature. In the mild forms, small blisters pdf icon to access. Epidermolysis bullosa blisters may not appear until a toddler first begins to walk or until an older child begins new physical activities that trigger more intense friction on the feet. Junctional epidermolysis bullosa generally becomes apparent at birth and may be severe. Epidermolysis bullosa eb is the name for a group of rare inherited skin disorders that cause the skin to become very fragile. Mutations were found in 1 or both alleles in all presented at birth or soon after with skin blistering on the fingers, lips, oral mucosa, and ears, which later became widespread. Blisters and areas of skin loss erosions occur in response to minor injury or friction, such as rubbing or scratching.
Epidermolysis bullosa has three major forms and at least 16 subtypes. Treatment of epidermolysis bullosa dystrophica by alpha. A 40yearold woman presented with lid ulcerations, chronic conjunctivitis, diffuse subepithelial corneal scarring, corneal ulceration, and. Most patients develop symptoms in the newborn period. Deb is divided into two major types depending on inheritance pattern.
Vol 3, no 3, september 2012 and dahl for the first time in 1971. The extent of oral involvement varies from one eb variant to another. Dystrophic epidermolysis bullosa deb is a form of inherited epidermolysis bullosa eb characterized by cutaneous and mucosal fragility. Dystrophic epidermolysis bullosa deb is a genetic skin disorder affecting. Death from colonic disease in epidermolysis bullosa dystrophica article pdf available in bmc dermatology 61. Epidermolysis bullosa eb consists of a group of genetic hereditary disorders in which patients frequently present fragile skin and mucosa that form blisters following minor trauma. The eye in epidermolysis bullosa british journal of.
Pdf clinical management for epidermolysis bullosa dystrophica. Treatment of epidermolysis bullosa dystrophica by alpha tocopherol. Citescore epidermolissi average citations received per document published. Epidermolysis bullosa dystrophica in children radiology.
Esophageal involvement in epidermolysis bullosa dystrophica. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. Epidermolysis bullosa simplex is one of a group of genetic conditions called epidermolysis bullosa that cause the skin to be very fragile and to blister easily. Epidermolysis bullosa dystrophica with epidermal neoplasms. Other patients may have problems with manual tasks, and may. Dystrophic epidermolysis bullosa genetics home reference. Links to pubmed are also available for selected references.
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