Generalized pustular psoriasis (GPP) is a rare inflammatory skin disease that can be life-threatening. Recently, it has been reported that familial GPP is caused by homozygous or compound heterozygous mutations of IL36RN. However, the majority of GPP cases are sporadic and it is controversial whether IL36RN mutations are a causative/predisposing factor for sporadic GPP. We searched for IL36RN mutations in two groups of GPP patients in the Japanese population in this study: GPP without psoriasis vulgaris (PV), and GPP with PV. Eleven cases of GPP without PV (GPP alone) and 20 cases of GPP accompanied by PV (GPP with PV) were analyzed. Surprisingly, 9 out of 11 cases of GPP alone had homozygous or compound heterozygous mutations in IL36RN. In contrast, only 2 of 20 cases of GPP with PV had compound heterozygous mutations in IL36RN. The two cases of GPP with PV who had compound heterozygous mutations in IL36RN are siblings, and both cases had PV-susceptible HLA-A*0206. We determined that GPP alone is a distinct subtype of GPP and is etiologically distinguished from GPP with PV, and that the majority of GPP alone is caused by deficiency of the interleukin-36 receptor antagonist due to IL36RN mutations.

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SUMMARYAdhesion molecules such as ICAM-I and E-sclcctin have been shown to play important roles in the production of allergic inflammation. In the present study, we measured serum soluble ICAM-1 (sICAM-l)and soluble E-selectin (sE-selcctin) levels by ELISA in 42 patients with bronchial asthma (22 alopic and 20 non-atopic) during asthma attacks and in stable conditions in order to assess the state of ICAM-I and E-selectin in allergic inflammation. Both serum sICAM-l levels and serum sEsclectin levels in sera obtained during bronchial asthma attacks were higher than those in sera obtained in stable conditions. These findings were observed regardless of atopic status. To examine the regulatory mechanism in the elevation ofserum sICAM-i and sE-selectin levels, serum tumour necrosis factor-alpha (TNF-a) levels were measured by ELISA. TNF-a levels in sera obtained during bronchial asthma attacks were higher than those in sera obtained in stable conditions. There was a correlation between the nature of change in serum TNF-a levels and the nature of change in serum slCAM-1 levels or serum sE-selectin levels, though serum TNF-a levels did not correlate with serum sICAM-1 levels or serum sE-selectin levels. These results suggest that higher levels of sICAM-l and sE-selectin during asthma attacks may reflect the up-regulation of ICAM-l and E-seleetin expression in allergic inflammation, and that the soluble form of these adhesion molecules may be useful markers for the presence of allergic inflammation. TNF-a is shown to enhance the expression and release of ICAM-1 and E-selectin in vitro, however; the regulatory mechanism in the elevation of serum sICAM-1 and sE-selectin levels remains to be clarified.

IgG4-related disease (IgG4-RD) is a recently designated disease entity and its full picture has not yet been elucidated. Here, we report an unusual case of a patient with gastric wall thickening secondary to IgG4-RD. A 68-year-old male visited our hospital with itchy skin lesions and an episode of organizing pneumonia. On the suspicion of malignancy-associated skin lesions, computed tomography (CT) was performed. The CT revealed prominent thickening of the gastric wall. Due to the possibility of malignancy, the patient underwent distal gastrectomy. Histopathological examination showed fibrosis of the submucosa and prominent thickening of the muscularis propria. Most of infiltrating cells were IgG4-positive plasma cells. Post-operative blood test revealed significantly high serum levels of total IgG and IgG4. Based on these histological features, the patient was given a definitive diagnosis of IgG4-RD. Further accumulation of cases like the present case that develop IgG4-RD with rare manifestations would lead to the elucidation of pathogenesis.

Despite the fact that cutaneous sinus tracts of odontogenic origin are well documented, the condition is still commonly misdiagnosed, because chronic periapical periodontitis may be asymptomatic and is rarely open to the skin. A 75-year-old Japanese woman presented to our clinic with the chief complaint of a left cheek skin lesion with mild pain. Physical examination revealed a subcutaneous nodule covered with erythematous skin on her left buccal region. Cultures from the subcutaneous nodule grew Bacteroides species and Peptostreptococcus micros but did not yield acid-fast bacilli, fungi, or Actinomyces. Stains of smeared pus showed a considerable number of Gram-negative rods. The histopathological examination revealed a focal abscess formation in the lower dermis and subcutaneous tissue. Dental evaluation, including an orthopantogram, showed a radiolucent alveolar area at the left lower first molar apex, suggesting a periapical abscess. Antibiotic therapy for three weeks associated with surgical root canal therapy eliminated the subcutaneous nodule. A high degree of suspicion is required to correctly diagnose a lower facial lesion as being of odontogenic origin, and prompt dental evaluation should be considered.