Bilateral auricular pseudocyst: recognizing and treating.

An auricular pseudocyst is a benign cystic lesion of the auricular cartilage. When not recognized, it is a clinical presentation that can easily be misdiagnosed and subsequently be mistreated leading to unsatisfactory esthetical results or disease recurrence. A patient was presented with bilateral pseudocysts, which were surgically excised. The aim of the treatment of a pseudocyst is to have recurrence-free resolution and to restore the original auricular architecture while removing the cystic lesion. Three alternatives to surgery are described in the literature and all seem not to be sufficient. When the pseudocyst is treated at an early stage, surgical excision shows high success rates and preservation of the auricular architecture. According to the success rate described in the literature combined with the preservation of the auricular architecture, we recommend surgical excision for the management of auricular pseudocysts.

Sneddon syndrome and the diagnostic value of skin biopsies - three young patients with intracerebral lesions and livedo racemosa.

Sneddon syndrome is a rare disorder characterised by generalised livedo racemosa of the skin with extracutaneous neurological symptoms like headache, vertigo, transient ischaemic attacks (TIA), stroke, and seizures. Diagnosis of Sneddon syndrome is based on these clinical features and positive findings in skin biopsies, namely the histological proof of occlusion of arterioles by intimal proliferation. We describe three cases of young patients with clinical characteristics of Sneddon syndrome, but in only two cases could this diagnosis be confirmed by skin biopsies. These cases stress the difficulty of diagnosing Sneddon syndrome and show the additive value of skin biopsies in this process.

Erythropoietic protoporphyria without skin symptoms-you do not always see what they feel.

Erythropoietic protoporphyria (EPP) is an inherited disorder of the porphyrin metabolism that often remains undiagnosed in children. We report on a 4-year-old girl who had been suffering for 1 year from recurrent painful crises affecting her hands, feet, and nose following sun exposure. Objective skin lesions were absent until the age of 6. Porphyrin analysis revealed elevated free erythrocyte protoporphyrin (FEP) levels confirming the diagnosis of EPP. This illustrates that skin lesions might be completely absent in children affected with EPP, a fact that has only been reported once previously. Because EPP can manifest with few and unspecific cutaneous symptoms or no skin lesions at all, like in this patient, the diagnosis of EPP might be delayed or missed. EPP should be excluded in all photosensitive children, especially when discomfort is disproportionate to the extent of the cutaneous lesions. The clinic, pathophysiology, diagnosis, complications, and therapy of EPP are discussed.

Compliance to clinical guidelines for early-stage epithelial ovarian cancer in relation to patient outcome.

OBJECTIVES: To assess compliance to current surgical staging and adjuvant treatment guidelines for patients with early-stage epithelial ovarian carcinoma and its impact on overall survival. METHODS: Patients diagnosed between 1991 and 1997 with early-stage ovarian cancer were recruited from the Regional Cancer Registry of the central region in the Netherlands. Demographic data, tumour characteristics, surgical findings and therapeutic data were abstracted from medical records. Patients were classified into optimal and non-optimal surgical staging. Overall survival was estimated using Kaplan-Meier method. To adjust for age hazard ratios for overall survival were estimated with a Cox Proportional Hazards model. RESULTS: One hundred and twenty-five patients were included in the study, 41 of them (32.8%) were optimally staged. Guidelines for adjuvant radio- or chemotherapy were adequately followed in all 62 grade I patients and in 44 out of 59 grade II and III patients (74.6%). During 734.6 person-years of follow up 31 patients died. Five-year overall survival figures were 97.6% in the optimally staged group and 68.5% in the non-optimally staged group. Patients who were non-optimally staged, had a significant higher risk to die than those who were optimally staged (HR: 7.4; 95% CI: 1.7-32.2). In patients with a grade II and III tumours, complete surgical staging still had a significant influence on survival (HR: 3.8; 95% CI 1.7-8.3). In women with grade II or III tumours, adjuvant radio- or chemotherapy administered in accordance to the guidelines did not improve overall survival regardless whether they were optimally staged or not. CONCLUSION: Incomplete staging in early-stage ovarian cancer leads to gross mis-classification in grade II and III tumours and to a lesser extent in grade I tumours. This leads to undertreatment in both surgical and adjuvant therapy. Subsequently unnecessary deaths may occur. More effort must be put in identifying obstacles interfering with compliance of guidelines.

Clinical presentation and surgical quality in treatment of ductal carcinoma in situ of the breast.

To assess quality of surgical treatment of ductal carcinoma in situ (DCIS) and to compare teaching and non-teaching hospitals that constitute the Comprehensive Cancer Centres of the Middle Netherlands (IKMN), we retrospectively reviewed 499 patients with 502 DCIS lesions treated in the period 1989-2002. In teaching hospitals fewer patients presented with clinical symptoms compared to non-teaching hospitals (15% versus 24.0%, p = 0.01). Finally, 65% of patients underwent breast-conserving surgery and 35% of patients a mastectomy (no significant differences between the two types of hospitals). In teaching hospitals 19% of the patients had a disease-involved or unknown surgical margins versus 13% in non-teaching hospitals (p = 0.04). Twenty patients (4%) received radiation therapy postoperatively with no differences between teaching and non-teaching hospitals (p = 0.98). Quality of surgical treatment is the most important prognostic factor in treatment of DCIS. The quality of excisions should be improved and the exact status of margins should be recorded in pathology reports.

Local recurrences after conservative treatment of ductal carcinoma-in-situ of the breast without radiotherapy: the effect of age.

BACKGROUND: The main goal in treatment of ductal carcinoma-in-situ (DCIS) of the breast is to prevent local recurrences. Radiotherapy after breast-conserving surgery has been shown to decrease the recurrence rate, although whether all patients should be treated with radiotherapy remains a topic of debate. The aim of this study was to assess the local recurrence rate after conservative surgical treatment of DCIS without radiotherapy and to identify risk factors for local recurrence. METHODS: A total of 499 female patients with 502 DCIS lesions treated in the period 1989 to 2002 were retrospectively reviewed. Survival rates were calculated by the Kaplan-Meier method, and differences were tested by using the log-rank test. The association of variables with local recurrence was analyzed by using the chi2 test. RESULTS: Treatment constituted of lumpectomy in 329 patients (65%). Thirty-eight patients (8%) had disease-positive margins, and for 41 patients (8%) the margin status was not known. Eighty tumors recurred, for a local recurrence rate of 13% after 4 years compared with 17% for patients treated with breast-conserving surgery only. Risk factors for ipsilateral recurrences were younger age (< 50 years), treatment with breast-conserving surgery only, and presence of disease-involved surgical margins. CONCLUSIONS: Conservative treatment of DCIS results in high recurrences rates, and outcomes can be improved by performing more radical surgery. Because radiotherapy has been shown to be effective in preventing recurrent disease, and, to date, no subgroups have been identified in which radiation can be omitted, its use is recommended, especially in younger patients.

A prospective study on predictive factors linked to the presence of BRCA1 and BRCA2 mutations in breast cancer patients.

We prospectively screened a hospital-based population of 1000 successive breast cancer patients receiving adjuvant radiotherapy for predictive factors associated with the presence of BRCA1 and BRCA2 mutations. We offered genetic counseling and DNA analysis to selected patients. About 52% of patients showed at least one presumed predictive factor. Hundred and thirty-seven patients underwent DNA analysis. We identified 14 deleterious mutations (10.2%, 95% CI: 5.2-15.3%): 8 BRCA1 mutations and 6 BRCA2 mutations and 14 variants of uncertain clinical significance. Ovarian cancer in the family history was the only factor significantly associated with the presence of a disease-causing mutation (P < 0.01). Eight of the 14 (57%) mutation carriers had no affected first-degree relatives and in 4 of these there was no family history of breast or ovarian cancer. Clinicians should offer genetic counseling and DNA testing to breast cancer patients from families with breast and ovarian cancer, and to patients who are younger than 45 years when they are diagnosed with breast cancer.