Department of Dermatology, University Medical Center Freiburg, Hauptstr. 7, 79104 Freiburg, Germany.Dermatologic clinics (Impact Factor: 1.69). 01/2010; 28(1):61-6. DOI: 10.1016/j.det.2009.10.007
Collagen XVII has been identified as having a role in inherited junctional epidermolysis bullosa non-Herlitz (JEB-other, MIM #226650). The role of collagen XVII in both autoimmune and genetic blistering disorders demonstrates its relevance to dermal-epidermal adhesion. Collagen XVII is a major structural component of the hemidesmosome (HD), a highly specialized multiprotein complex that mediates the anchorage of basal epithelial cells to the underlying basement membrane in stratified, pseudostratified, and transitional epithelia. This article examines the genetic and pathological features of collagen XVII.
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ABSTRACT: Epidermolysis bullosa (EB) is a heterogeneous group of inherited rare diseases, which are characterized by trauma-induced blister formation of the skin and mucosa. The underlying cause is a functional deficiency of structural proteins of the epidermis or the dermis. Depending on the level of the blister formation, EB is divided into EB simplex (intra-epidermal), junctional EB (within the lamina lucida), dystrophic EB (below the lamina lucida) and Kindler syndrome (variable level of split formation). Besides different distinct blister formation and pain symptoms secondary problems like anaemia, oesophageal stenosis, cardiomyopathy or squamous cell carcinoma may occur. Since causal therapies are not available strict prevention of friction and trauma is essential to avoid blister formation. Anaesthesia challenges exist in the field of bedding procedures, care of the skin, monitoring, airway management und analgesia. This article gives a review over the EB and highlights in detail the corresponding anaesthesia characteristics.
Article: The Collagen Family[Show abstract] [Hide abstract]
ABSTRACT: Collagens are the most abundant proteins in mammals. The collagen family comprises 28 members that contain at least one triple-helical domain. Collagens are deposited in the extracellular matrix where most of them form supramolecular assemblies. Four collagens are type II membrane proteins that also exist in a soluble form released from the cell surface by shedding. Collagens play structural roles and contribute to mechanical properties, organization, and shape of tissues. They interact with cells via several receptor families and regulate their proliferation, migration, and differentiation. Some collagens have a restricted tissue distribution and hence specific biological functions.
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ABSTRACT: Heritable skin diseases represent a broad spectrum of clinical manifestations due to mutations in ∼500 different genes. A number of model systems have been developed to advance our understanding of the pathomechanisms of genodermatoses. Zebrafish (Danio rerio), a freshwater vertebrate, has a well-characterized genome, the expression of which can be easily manipulated. The larvae develop rapidly, with all major organs having developed by 5-6 days post-fertilization, including the skin, consisting of the epidermis comprising two cell layers and separated from the dermal collagenous matrix by a basement membrane. This perspective highlights the morphological and ultrastructural features of zebrafish skin, in the context of cutaneous gene expression. These observations suggest that zebrafish provide a useful model system to study the molecular aspects of skin development, as well as the pathogenesis and treatment of select heritable skin diseases.
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