[Basal cell carcinoma of the face and scalp : An update on treatment options]. / Basalzellkarzinom der Gesichts- und Kopfhaut : Update der Therapieverfahren.

The treatment of malignant tumors of the facial skin is an important part of the specialty oral and maxillofacial surgery. In two successive CME articles, important aspects of frequent entities are dealt with for the facial area. The current article deals with basal cell carcinoma, the most common localization of which is by far the facial area. Surgical resection is the treatment modality of first choice. A risk-adapted approach involving complete histopathological margin assessment is recommended for basal cell carcinoma at risk for recurrence or aggressive spread in order to spare healthy skin and to control subclinical tumor growth. There are specific caveats for non-surgical treatment options, such as topical medication, destructive procedures, and radiotherapy. This article describes indications and treatment methods with a focus on surgical resection techniques.

Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome.

Worldwide, the syndromes of paraganglioma (PGL), somatostatinoma (SOM) and early childhood polycythemia are described in only a few patients with somatic mutations in the hypoxia-inducible factor 2 alpha (HIF2A). This study provides detailed information about the clinical aspects and course of 7 patients with this syndrome and brings into perspective these experiences with the pertinent literature. Six females and one male presented at a median age of 28 years (range 11-46). Two were found to have HIF2A somatic mosaicism. No relatives were affected. All patients were diagnosed with polycythemia before age 8 and before PGL/SOM developed. PGLs were found at a median age of 17 years (range 8-38) and SOMs at 29 years (range 22-38). PGLs were multiple, recurrent and metastatic in 100, 100 and 29% of all cases, and SOMs in 40, 40 and 60%, respectively. All PGLs were primarily norepinephrine-producing. All patients had abnormal ophthalmologic findings and those with SOMs had gallbladder disease. Computed tomography (CT) and magnetic resonance imaging revealed cystic lesions at multiple sites and hemangiomas in 4 patients (57%), previously thought to be pathognomonic for von Hippel-Lindau disease. The most accurate radiopharmaceutical to detect PGL appeared to be [18F]-fluorodihydroxyphenylalanine ([18F]-FDOPA). Therefore, [18F]-FDOPA PET/CT, not [68Ga]-(DOTA)-[Tyr3]-octreotate ([68Ga]-DOTATATE) PET/CT is recommended for tumor localization and aftercare in this syndrome. The long-term prognosis of the syndrome is unknown. However, to date no deaths occurred after 6 years follow-up. Physicians should be aware of this unique syndrome and its diagnostic and therapeutic challenges.

Retinal pigment epithelium tear in vogt-koyanagi-harada disease.

PURPOSE: The purpose of this study was to report a case of Vogt-Koyanagi-Harada disease causing large tears of the retinal pigment epithelium (RPE). METHODS: Case report and literature review. RESULTS: A 41-year-old woman presented with headache, tinnitus, and bilateral panuveitis with multiple serous retinal detachments. She was started on oral prednisone, and the inflammation and serous detachments subsided. However, 2 weeks later, she developed large RPE tears. CONCLUSION: Vogt-Koyanagi-Harada disease is an inflammatory disorder of the choroid; however, irregularities in the RPE have been noted, most recently with the use of spectral domain ophthalmic coherence tomography. The finding of RPE tear with resolution of serous retinal detachment may further implicate involvement of the RPE in the disease process.

Invasive zygomycosis in patients with graft-versus-host disease after allogeneic stem cell transplantation.

Invasive mold infections are a threat to immunosuppressed patients such as patients with graft-versus-host disease (GVHD) after allogeneic stem cell transplantation (SCT). Up to 10% of SCT recipients develop invasive aspergillosis (IA). Invasive zygomycosis (IZ) may occur during treatment against IA. Here we report 4 SCT patients with GVHD diagnosed with IZ. All patients had received myeloablative hematopoietic SCT and developed chronic GVHD requiring systemic immunosuppression. Underlying diseases were acute lymphocytic leukemia (2), osteomyelofibrosis, and multiple myeloma. All patients had developed pulmonary infiltration that led to initiation of antifungal therapy. Treatment for IA was voriconazole, caspofungin, or itraconazole. Organs involved with zygomycosis were lung, nasal sinus, skin, and kidney. Treatment with liposomal amphotericin and posaconazole was initiated in all patients, and 2 patients also had surgical debridement as well. Despite intensive treatment, no patient survived. IZ is becoming more common in patients with GVHD on successful treatment for IA. Even non-specific symptoms are suspicious in this group of patients and need to be evaluated by vigorous diagnostics. Despite effective antifungals and surgical intervention, the prognosis is grim in patients with active GVHD, as immunoreconstitution is mandatory for successful management.

[Pancytopenia and lymph node swelling. Cardinal symptoms of an unusual differential diagnosis]. / Panzytopenie und generalisierte Lymphknotenschwellung. Leitsymptome einer ungewöhnlichen Differenzialdiagnose.

A 47-year-old woman was admitted to our emergency room because of anemia and acute tonsillitis. She reported recurrent fever and a sore throat. Clinical examination and CT scans showed general lymph node swelling and liver enlargement. In the course of the disease she developed pancytopenia with neutropenic fever, pleuropneumonia, and deep vein thrombosis. The histological examination of a lymph node showed a reactive, EBV-associated lymphadenitis. The examination of the bone marrow showed an activated marrow. The diagnosis of an active EBV infection was established with 2 x 10(6)/ml EBV gene copies in the blood. In addition, systemic lupus erythematosus was diagnosed because of the typical autoantibody constellation and clinical findings. The immunohematological examination showed autoantibodies against the three blood cell compartments. Because of the severe pancytopenia as a result of the EBV- and SLE-associated autoantibodies and despite recurrent infections, we initiated immunosuppressive therapy with low-dose corticosteroids. This therapy resulted in normalization of the blood counts. Anitibody levels and the EBV genome levels became negative.

Accuracy of primary care clinicians in screening for diabetic retinopathy using single-image retinal photography.

PURPOSE: Diabetic patients with limited access to ophthalmologists have low screening rates for diabetic retinopathy. We evaluated a diabetic retinopathy screening program in a community health center using single images taken with a nonmydriatic retinal camera and primary care clinicians trained to read retinal images. METHODS: This study was conducted from 2001 to 2004 in a multisite community health center staffed by family physicians, advanced practice nurses, and physician's assistants. The clinic serves a primarily low-income, Hispanic population. Clinic clinicians were trained to read the retinal photographs. All images were overread by an ophthalmologist. Patients were referred to eye care specialists for severe diabetic retinopathy, unknown or other abnormality, or inadequate photographs. We analyzed agreement between the clinicians and the ophthalmologist in recognizing diabetic retinopathy and in determining which patients needed referral. We also analyzed overall screening rates based on clinic access to the camera. RESULTS: One thousand forty diabetic patients were screened for diabetic retinopathy at the health center. One hundred thirteen (10.9%) were found to have diabetic retinopathy, 46 severe enough to warrant referral to an ophthalmologist. The clinicians failed to refer 35 (10.2%) of the 344 patients the ophthalmologist believed needed referral. Most cases of missed referral were due to failure to recognize an inadequate photograph or for abnormalities other than diabetic retinopathy. Screening rates were better in the clinic with a permanent camera. CONCLUSIONS: Primary care clinicians trained to read single images from a retinal camera have acceptable accuracy in screening for diabetic retinopathy. Further training may be necessary to recognize other common abnormalities.

Rapid onset proptosis and vision loss as the initial presentation of Burkitt lymphoma.

Burkitt lymphoma is a rapidly growing, high-grade non-Hodgkin lymphoma occurring in three distinct clinical subtypes: endemic, sporadic, and human immunodeficiency associated. The sporadic subtype typically presents as an abdominal mass. Orbital involvement has rarely been reported. The authors report a case of Burkitt lymphoma presenting as rapidly progressive proptosis and loss of vision. Given the tumor's rapid growth rate, potential for vision loss, and good response to chemotherapy, clinicians should be aware of this rare presentation.

Colorectal cancer in the elderly: surgical treatment and long-term survival.

BACKGROUND AND AIMS: The prognosis of radical treatment for colorectal cancer in elderly patients has been subject of controversies. The aim of this study was to compare patients at the age of 75 years or older with a group of younger patients, focused on the clinicopathologic characteristics and the results of radical treated colorectal cancer. PATIENTS AND METHODS: A retrospective study was made to evaluate age-related surgical risk and outcome. The following criteria were analyzed in two age groups (<75 years and > or =75 years): comorbidities, tumor characteristics, type of resection, postoperative morbidity and mortality, recurrence rate, overall survival, cancer-related survival, and disease-free survival. RESULTS: Altogether, 517 patients were included into the study. Gender, ASA risk score, frequency of concomitant comorbidities, and tumor location differed significantly between the two age groups. Tumor characteristics were equal between the two groups. There were no differences in 30-day morbidity except in postoperative bleeding, but 30-day mortality was higher in the older age group. Mean time of follow-up was approximately 32 months. Frequencies for adjuvant, as well as for palliative (radio-) chemotherapy were lower in the older group. While cancer-related survival was lower in the higher age group, there were no differences in disease-free survival. CONCLUSION: The age of patients does not seem to be a prognostic factor for perioperative results; furthermore, the long-term results rather depend on the stage of disease and on adjuvant or palliative treatment, respectively, than on age.

Tumour budding in colorectal carcinoma.

The term tumour budding denotes that at the invasion front of colorectal adenocarcinomas tumour cells, singly or in small aggregates, become detached from the neoplastic glands. This morphological feature is increasingly being recognized as a strong and robust adverse prognostic factor. Biologically, tumour budding is closely related to the epithelial-mesenchymal transition. In this review the morphological features of tumour budding are discussed, as observed by the surgical pathologist reporting colorectal carcinoma resection specimens. The morphological features are put into context with the rapidly expanding knowledge of the epithelial-mesenchymal transition in general, and the molecular pathology of colorectal carcinoma in particular. Finally, a systematic analysis of the relevant published clinicopathological studies emphasizes the potential of tumour budding as a prognostic factor for routine surgical pathology.

Phenotypes of invasion in sporadic colorectal carcinomas related to aberrations of the adenomatous polyposis coli (APC ) gene.

AIMS: To determine whether the dissociation of tumour cells from neoplastic glands in colorectal carcinomas is caused by disruption of the wnt-signalling pathway and whether the adenomatous polyposis coli (APC) protein is implicated in this. METHODS AND RESULTS: In a series of 99 clinically sporadic colorectal carcinomas, APC exon 15 mutations, loss of heterozygosity (LOH) and promoter methylation were found in 49, 20 and 23 cases, respectively. Singly, these APC aberrations were not associated with the degree of tumour cell dissociation, but dissociation was higher for the cases with combined APC mutation and LOH. Immunohistochemical beta-catenin translocation to the nucleus correlated with APC aberrations. Tumour growth pattern (expansive/infiltrative/diffuse) and tumour stroma (desmoplastic common-type versus keloid-like) showed a statistically significant association with tumour cell dissociation and with beta-catenin translocation. Of other molecular alterations tested (p53 mutation; LOH at 17p13, 18q, 9p21; CpG island methylator phenotype), only the highly microsatellite unstable status (n = 11) was negatively associated. CONCLUSIONS: In colorectal carcinomas, wnt dysregulation relates to APC aberrations, but wnt dysregulation and APC aberrations are not strictly required for tumour cell dissociation, and additional and/or alternative factors must play a role. Of these, outside-in signalling by cancer cell-matrix interactions, as partially mirrored in histomorphological features, could be important.

Ophthalmic manifestations of Danon disease.

PURPOSE: To describe the ophthalmic findings in patients with Danon disease, an X-linked condition causing cardiomyopathy in males and females. DESIGN: Retrospective case series. PARTICIPANTS: Patients with genetically proven Danon disease. METHODS: Retrospective chart review of complete eye examinations including electroretinogram, visual fields, and fluorescein angiography. RESULTS: Five females (4 affected) and 2 affected males were examined. The 4 affected females demonstrated a peripheral pigmentary retinopathy. Lens changes, myopia, abnormal electroretinogram and visual fields were also found. The males demonstrated a near-complete loss of pigment in the retinal pigment epithelium. CONCLUSION: We report the first description of a characteristic retinopathy in patients with Danon disease and the first extracardiac manifestations in affected females. Retinopathy potentially could be used to identify asymptomatic carriers.

Concurrent chemoradiation with capecitabine and weekly irinotecan as preoperative treatment for rectal cancer: results from a phase I/II study.

The aim of this study was to investigate the efficacy and safety of chemoradiation using capecitabine and irinotecan as neoadjuvant therapy for patients with rectal cancer. Conventional radiation was given at daily fractions of 1.8 Gy on 5 days a week for a total dose of 55.8 (50.4 + 5.4) Gy. Concurrently, irinotecan 40 mg m(-2) once weekly and capecitabine continuously at dose levels of 500, 650, 750 and 825 mg m(-2) twice daily were administered. Surgery was performed 4-6 weeks following completion of chemoradiation. A total of 28 patients (3 UICC II, 25 UICC III) were enrolled and all received treatment. Dose-limiting toxicity was diarrhoea grade IV and hand-foot syndrome at the 825 mg m(-2) dose level. The maximum tolerated dose of capecitabine was 750 mg m(-2). Diarrhoea was the most common toxicity: grade III in nine patients. Two patients died, one due to pneumonia and one due to sudden cardiac death. A complete response and only microfocal residual tumour disease was achieved in four and three patients (27%). In all, 25 of 28 patients undergoing surgery, 24 (96%) had R0 resection. Preoperative chemoradiation based on continuous daily capecitabine and weekly irinotecan appears to tolerated and effective in patients with rectal cancer.