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Epidermolysis bullosa

In medicine (dermatology) Epidermolysis bullosa (EB) is a rare genetic disease characterized by the presence of extremely fragile skin and recurrent blister formation, resulting from minor mechanical friction or trauma. This condition is not contagious. The condition was brought to public attention in the Channel 4 documentary The Boy Whose Skin Fell Off, chronicling the life and death of English sufferer Jonny Kennedy. more...

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Forms

There are three main forms of inherited EB. These different subtypes are defined by the depth of blister location within the skin layers, and the location of the dissolution of the skin.

EB Simplex (EBS) -- ABOVE the basement membrane

Blister formation of EB simplex is within the basal keratinocyte of the epidermis. Sometimes EB simplex is called epidermolytic. There are four subtypes of EBS:

  1. EBS - Weber-Cockayne (EBS-WC)
  2. EBS - Koebner (EBS-K)
  3. EBS - Dowling-Meara (EBS-DM) -- caused by missense mutation in KRT5 (E477K) or one of two missense mutations in KRT14 (R125C and R125H)
  4. EBS - Mottled Pigmentation (EBS-MP) - caused by one missense mutation in KRT5 (I161S) or by missense mutations in the plectin gene (Koss-Harnes et al., 1997;Koss-Harnes et al., 2002).

Junctional EB (JEB) -- THROUGH the basement membrane

Blister formation in Junctional EB is seen at the level of the lamina lucida within the basement membrane zone.

Dystrophic EB (DEB) -- UNDER the basement membrane

Dystrophic EB (DEB) forms which can lead to scarring occur in a deeper tissue level; the sub-lamina densa region(the beneath the lamina densa) within the upper dermis. The disease DEB is caused by genetic defects (or mutations) within the molecule type VII collagen (collagen VII). Collagen VII is a very large molecule (780 nm) that dimerizes to forms a semicircular looping structure: the anchoring fibril. Anchoring fibrils are thought to form a strucutral link between the epidermal basement membrane and the fibrillar collagens in the upper dermis.

Collagen VII is also present in the epithelial tissue of the esophagus, which leads to chronic scarring, webbing, and obstruction. Affected individuals are often severely malnourished due to trauma to the oral and esophageal mucosa and require feeding tubes for nutrition. They also suffer from iron-deficiency anemia of uncertain origin, which leads to chronic fatigue.

Open wounds on the skin heal slowly and are particularly susceptible to infection. Many individuals bathe in a bleach and water mixture to fight off these infections.

The chronic inflammation leads to errors in the DNA of the affected skin cells, which in turn causes squamous cell carcinoma (SCC). The majority of these patients die before the age of 30, either of SCC or complications related to DEB.

Epidemiology

An estimated 2 out of every 100,000 live births are affected with some type of EB. The disorder occurs in every racial and ethnic group throughout the world and affects both sexes equally.

Read more at Wikipedia.org


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A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema
From Journal of Drugs in Dermatology, 12/1/03

Gu LH, Kim SC, Ichiki Y, Park J, Nagai M, Kitajima Y. J Invest Dermatol 2003 Sep: 121(3):482-5.

The authors report a unique familial type of epidermolysis bullosa simplex (EBS) and a novel mutation in the keratin gene KRT5, i.e., a frameshift and delayed stop codon inconsistent with any subtype described before. The main pathological findings were migratory circinate erythema and multiple vesicles on the circular belt-like areas affected by erythema. Microscopic studies via electron microscopy (EM) of skin biopsies showed a reduction in the number of keratin intermediate filaments in the basal cells without tonofilament clumping. The deletion in the KRT 5 gene (deletion of guanine at 1649) is predicted to produce a mutant keratin 5 protein with a frameshift of its terminal 41 amino acids and 35 amino acids longer than the wild-type keratin 5 protein due to a delayed termination codon. The by-product was an abnormal elongated keratin protein that most likely leads to an atypical clinical phenotype that has never been reported, possibly by interfering with the functional interaction between keratin and its associated proteins. All in all, this mutation has not been previously described, and the interference of keratin and its proteins produces EBS with a migratory circinate erythema.

JDD ARTICLE EVALUATION

Mutations for KRT-5 have been documented for EBS in types Dowling-Meara (DM), Weber-Cockayne (WC), and Koebner (K), but most are in the V1 region; none had mutations in the V2 domain of K5. As a result of this of this K5 mutation in V2 we have a less severe form of EBS-DM, but this new fore1 of EBS presents with a different age of onset (birth vs. childhood), generalized vesicles (DM) vs. localized, and annular erythematous vesicles. There ate no hyperkeratoses of the palms and soles, no nail changes, and no pyloric atresia. Because this entity presents with none of the clinical findings of EBS-DM, it is on the V2 region of KS, and there is no clumping of tonofilaments nor herpetiform vesicles, we should consider a new type of EBS in our classification. The authors suggest EBS with migratory circinate erythema (MCE): I would recommend EBS-GuKim type (EHS-GK). In summary, a new type of riBS has been identified, similar to EBS-DM in genetics but unique in clinical presentation and microscopy. presenting with a migratory cireinam erythema.

COPYRIGHT 2003 Journal of Drugs in Dermatology
COPYRIGHT 2004 Gale Group

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