Sjögren syndrome (SS) is a chronic autoimmune inflammatory disease that involves primarily the exocrine glands, resulting in their functional impairment. SS typically presents as dry eyes (xerophthalmia) and dry mouth (xerostomia). This process can manifest either as the independent phenomenon of primary SS or as secondary SS when found in the context of another autoimmune process, most commonly rheumatoid arthritis or systemic lupus erythematosus. Nearly half of the patients with SS develop cutaneous manifestations, which may include dry skin (xeroderma), palpable and nonpalpable purpura, and/or urticaria-like lesions. These cutaneous manifestations have been underemphasized because they are often overshadowed by the more prominent sicca symptoms. However, certain skin findings are of paramount clinical and prognostic importance as they confer an increased risk for the development of life-threatening conditions, including multisystem vasculitis and non-Hodgkin lymphoma.OBJECTIVE AND CONCLUSIONS:In this review, the cutaneous manifestations of primary SS are discussed, with an emphasis on those findings that portend an increased risk of mortality.
Darier's disease (DD) is difficult to treat and has no cure. Although many modalities have been investigated, treatment options to date are largely unsatisfactory. Side-effect profiles have limited the use of many of these therapies, as has their ability to target only limited areas of disease. Furthermore, the effectiveness of most available treatments seems to be highly individualized, varying with disease severity and offering little alteration in the natural course of the disease. The present study reports a case of severe DD that was poorly responsive to known therapeutic modalities but responded to electron beam radiotherapy, and recommends this therapeutic modality for localized areas of severe, recalcitrant symptomatic disease.
Bullous pemphigoid (BP) is a common autoimmune blistering disorder of the elderly. Several diagnostic modalities are available, including clinical impression, histopathology, direct and indirect immunofluorescence, and enzyme-linked immunosorbent assay (ELISA) detection of pathogenic antibodies. In this study, we aim to examine the utility of the newest test, ELISA, in comparison to the constellation of other tests. We describe our clinical experience in which 170 patients diagnosed with bullous pemphigoid had multiple tests performed. BP180 alone showed a sensitivity of 54 % and specificity of 94 %. The positive predictive value (PPV) is 95 % while the negative predictive value (NPV) is 52 %. BP230 alone yielded a sensitivity of 48 % and specificity of 94 %. The PPV is 94 % and the NPV is 49 %. Using both tests in combination yielded a sensitivity of 66 % and specificity of 89 %. The PPV of at least one of two tests returning positive is 92 % while the NPV of dual negative tests is 58 %. Use of ELISAs for suspected cases of BP are an inadequate standalone test, and are only helpful in making the diagnosis should they return positive. However, they would appear to miss about one-third of cases.
Herlitz junctional epidermolysis bullosa (H-JEB) is a rare, heritable mechanobullous disease that affects infants at birth and causes early death. This disease is primarily caused by compound heterozygous or homozygous mutations in one of three genes affecting the function of one of the three chains of the laminin-332 (formerly laminin-5) protein. Here we report a case of H-JEB with a novel heterozygous mutation in LAMB3,c.1597G>A (p.Ala533Thr). These findings attest to the molecular heterogeneity of JEB and emphasize the importance of genetic analysis to help make an accurate diagnosis, predict clinical prognosis, and identify phenotypic-genotypic relationships that may aid in prenatal diagnosis and genetic counseling for the future.
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