Epidermolysis bullosa.

Epidermolysis bullosa (EB) is an inherited, heterogeneous group of rare genetic dermatoses characterized by mucocutaneous fragility and blister formation, inducible by often minimal trauma. A broad phenotypic spectrum has been described, with potentially severe extracutaneous manifestations, morbidity and mortality. Over 30 subtypes are recognized, grouped into four major categories, based predominantly on the plane of cleavage within the skin and reflecting the underlying molecular abnormality: EB simplex, junctional EB, dystrophic EB and Kindler EB. The study of EB has led to seminal advances in our understanding of cutaneous biology. To date, pathogenetic mutations in 16 distinct genes have been implicated in EB, encoding proteins influencing cellular integrity and adhesion. Precise diagnosis is reliant on correlating clinical, electron microscopic and immunohistological features with mutational analyses. In the absence of curative treatment, multidisciplinary care is targeted towards minimizing the risk of blister formation, wound care, symptom relief and specific complications, the most feared of which - and also the leading cause of mortality - is squamous cell carcinoma. Preclinical advances in cell-based, protein replacement and gene therapies are paving the way for clinical successes with gene correction, raising hopes amongst patients and clinicians worldwide.

Serological diagnosis of celiac disease.

Celiac disease CD is an inflammatory disease of the small intestine brought about by exposure to gluten in genetically predisposed individuals. Celiac disease most often presents with non specific, or extra-intestinal, manifestations and, consequently, the disease remains under diagnosed. Untreated CD is associated with high morbidity and, therefore, early diagnosis is essential. The availability of non-invasive and relatively cheap serological tests has made it possible to screen large numbers of patients and resulted in increased, and earlier, diagnosis of patients with CD. However, these tests have varying degrees of sensitivities and specificities and the results generated can lead to a lot of confusion with regards to the diagnosis, or exclusion, of CD. In the present review, we discuss in detail these tests and suggest how they can be used in screening patients for CD with the hope that such information will help clinicians to select the right tests and interpret the generated results more effectively, and thus lead to improved identification and treatment of patients with CD.