Transporter associated with antigen processing deficiency syndrome: case report of an adolescent with chronic perforated granulomatous skin lesions due to TAP2 mutation.

A previously unreported case of transporter associated with antigen processing (TAP) deficiency syndrome (with no parental consanguinity) due to a homozygous TAP2 mutation is presented. Characteristic nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections led to this boy being diagnosed at 15 years old. The role of the dermatologist was crucial in making the correct diagnosis and thereby positively influencing the quality of life and life expectancy of this boy.

Generalized Pustular Psoriasis (Von Zumbusch Type) Following Renal Transplant: A Case Report.

Generalized pustular psoriasis appears as an uncommon variant form of psoriasis consisting of widespread pustules on an erythematous background (von Zumbusch). A 39-year-old male patient with a history of plaque psoriasis since the age of 9 who had an acute relapse of generalized pustular psoriasis 12 days following a successful renal transplantation is presented. Despite administered immunosuppression for transplantation, the addition of cyclosporine and methotrexate did not reverse the ongoing process of disease and the patient died on the 57th posttransplant day due to multiorgan failure subsequent to severe bone marrow suppression.

Splenic abscess in a patient with Wegener's granulomatosis treated with laparoscopic splenectomy.

Splenic abscess complicating Wegener's granulomatosis (WG) has not been previously described. We report the occurrence of a splenic abscess in a 45-year-old white male suffering from WG. The patient presented with persistent fever and abdominal pain. Magnetic resonance imaging showed two splenic cystic lesions. Differential diagnosis was splenic hematoma or abscess. The patient underwent diagnostic laparoscopy and laparoscopic splenectomy. Pathology revealed a centrally located cavity full of pus and necrotic material. Although there were no signs of active vasculitis, all other histological features were compatible with WG. The patient had an uneventful postoperative course and his disease is in remission. Laparoscopic splenectomy appears to be a safe procedure, but its impact on the management of splenic abscess needs to be determined further.

Churg-Strauss syndrome occurring 30 years after the onset of ulcerative colitis.

Churg-Strauss syndrome (CSS) is a rare pulmonary and systemic vasculitis associated with asthma, with peripheral blood and/or tissue eosinophilia. We report the case of a 53-year-old woman who was admitted to the hospital with pneumonia and coma secondary to right hemisphere intracerebral hemorrhage. Although she recovered from the pneumonia, she remained comatose and had sinusitis and persisting blood eosinophilia. A muscle biopsy revealed eosinophilic vasculitis. The diagnosis of CSS was made and the patient recovered after being treated with prednisone and cyclophosphamide. This case reports the very rare appearance of CSS 30 years after the first appearance of ulcerative colitis and 27 years after the onset of asthma.

Prognostic significance of different immunohistochemical S100A2 protein expression patterns in patients with operable nonsmall cell lung carcinoma.

S100 proteins are involved in carcinogenesis, metastasis, and survival. S100A2 is a member of the S100 family, and its expression and precise role in patients with non-small cell lung carcinoma (NSCLC) has been debated. Therefore, we examined the immunohistochemical expression patterns of S100A2 in NSCLC in relation to clinicopathological parameters, important molecular biomarkers, and patient outcome. Microarray data for 74 paraffin-embedded specimens from patients with NSCLC were immunostained for S100A2 and p53 proteins. Immunohistochemical staining patterns of S100A2 in the NSCLC tissue samples examined were either nuclear (nS100A2), cytoplasmic (cS100A2), or both. A significant association between nS100A2 positivity and better disease-free interval was observed (hazards ratio 0.47; 95% confidence interval 0.23-0.99; P = 0.047). Similarly, cS100A2 negativity was marginally associated with shorter overall survival (P = 0.07). Patients without lymphatic infiltration and an earlier disease stage had significantly better overall survival and disease-free interval. The S100A2 expression pattern in operable NSCLC varies widely, and this differential expression (nuclear, cytoplasmic or both) seems to correlate with prognosis. Intensity of expression was highest in the early and advanced stages, and equally distributed in the middle stages. This observation may be indicative of a dual role for this protein both during earlier and advanced disease stages, and may also explain the differential immunoexpression of S100A2. Analysis of the disease-free interval showed that nS100A2-negative and p53-positive expression was associated with a statistically significant (P = 0.003) shorter disease-free interval in comparison with nS100A2-positive and p53-negative expression (12 versus 30 months, respectively). Further studies are required to establish whether S100A2 protein may have a substantial role as a prognostic or predictive indicator in this unfavorable group of patients.

Vascular fractal dimension and total vascular area in the study of oral cancer.

BACKGROUND: Microvessel quantification has been studied extensively as a factor reflecting angiogenesis in various malignant tumors. The aim of our study was to evaluate the vascular fractal dimension and the immunohistochemically positive total vascular area in oral cavity carcinomas in order to assess their potential value as factors reflecting angiogenesis. METHODS: Histologic sections from 48 carcinomas and 17 nonmalignant mucosa specimens were evaluated by image analysis using fractal analysis software. Total vascular area was also quantified. RESULTS: Carcinomas presented higher mean values of vascular fractal dimension and total vascular area compared to normal mucosa. The difference for the vascular fractal dimension was statistically significant. CONCLUSIONS: This study provides evidence that vascular fractal dimension could be used as a reliable factor reflecting angiogenesis in oral squamous cell carcinoma and that there are several statistically significant correlations among total vascular area, vascular fractal dimension, nuclear size, and clinicopathologic factors.