Background. Localized scleroderma (LSc) is characterized by cutaneous fibrosis and various

Pseudoxanthoma elasticum (PXE) is a hereditary disease, causing calcification and degeneration of elastic fibers, which affects the skin, eye, cardiovascular systems and gastrointestinal tract. PXE is caused by mutations in the ABCC6 gene. Neither detailed nor large-scale analyses have been accomplished in Japanese patients with PXE. We, therefore, investigated clinical symptoms and ABCC6 gene mutations in 76 Japanese patients. Japanese PXE patients (n = 76) had a significantly lower incidence of vascular lesions than 505 PXE patients in the Leiden Open Variation Database (LOVD) (38.7% vs 65.1%, respectively; P = 1.34E-06); however, the incidences of the skin, eye, cardiac and gastrointestinal lesion symptoms were not significantly different. Symptom severity scores for skin, eye and vascular lesions, calculated using the Phenodex™ system, were significantly lower in Japanese PXE patients than in LOVD PXE patients. Genetic analysis revealed three nonsense, four frame-shift, one exon deletion and 13 missense mutations in ABCC6 in 73 patients; however, we were unable to detect pathogenic mutations in three patients. Frequent mutations differed between Japanese and LOVD PXE patients. In Japanese PXE patients, the top five mutations accounted for more than 60% of all pathogenic changes, suggesting the presence of founder effects. Consistent with previous reports, no obvious correlations between genotypes and phenotypes were identified in this study. In conclusion, we consider that the milder clinical phenotypes, observed even in older Japanese PXE patients, could be attributed to environmental factors such as dietary habits and lifestyle, as well as genetic background.

A 76-year-old man with interstitial lung disease was admitted to our institution after developing persistent dyspnea upon effort. He also had a relapse of bullous eruptions on the skin of the trunk and extremities, previously diagnosed as vesicular pemphigoid. Direct immunofluorescence of a skin biopsy specimen using fluorescence microscopy showed the linear deposition of immunglobulin A (IgA), IgG and C3 along the basement membrane. These findings indicated a definitive diagnosis of linear IgA/IgG bullous dermatosis. Chest computed tomography, bronchoalveolar lavage and transbronchial lung biopsy findings suggested nonspecific interstitial pneumonia. Direct immunofluorescence of the lung biopsy specimens using fluorescence microscopy also showed a deposition of IgA, IgG and C3 along the epithelial cell membranes and basement membranes of the bronchioles and alveoli. Lung disorders associated with linear IgA/IgG bullous dermatosis are extremely rare and, to our knowledge, this is the first report of such a case of interstitial pneumonia.

REFERENCES (9200), (e) AE1/AE3 (9200), (f) CAM5.2 (9200), (g) p40 (9200), (h) p63 (9200) and slightly positive for (i) epithelial membrane antigen (9200).

Treatment of SJS includes symptomatic care and, in severe cases, systemic corticosteroids. Corticosteroids have adverse effects, such as immunosuppression and retardation of re-epithelialization, and consequently there are concerns over their use. 5 High-dose corticosteroids should be used with caution in patients suspected of infection-induced SJS, such as our patient. Many studies of IVIG for SJS and TEN have reported an arrest of disease progression and a reduction in the time to skin healing particularly with doses totaling more than 2 g/kg. Although the mechanisms by which IVIG counteracts SJS and TEN are not fully understood, immunomodulating effects are suspected. Therefore, high-dose IVIG would be considered as one of therapeutic options for SJS and TEN, and especially for infection-induced SJS.