Background The term of acquired perforating dermatosis (APD) comprises the perforating dermatoses occurring in adult patients. Clinical and histological features of the disease are not uniform, and may resemble any of the four classic perforating disorders: elastosis perforans serpiginosa, reactive perforating collagenosis, perforating folliculitis or Kyrle's disease. Chronic renal failure and/ or diabetes mellitus usually accompany this skin disease. Objective The aim of this study was to delineate the clinical and histopathological features of acquired perforating dermatosis and to investigate the potential relationship between this disease and associated conditions. Methods Twenty-two patients with acquired perforating dermatosis were enrolled in this study. Clinical findings of acquired perforating dermatosis and the spectrum of associated diseases were investigated. Haematoxylin and eosin sections were re-examined, and immunohistochemical stainings (elastic van Gieson and Masson trichrome stains) and periodic acid-Schiff stain were also used for histopathological evaluation. Results Different clinical types of lesions resembling reactive perforating collagenosis, perforating folliculitis or Kyrle's disease were observed. Histopathological features were consistent with any of the four types of perforating dermatoses. Most of the patients (86.4%) had at least one systemic disease. Chronic renal failure (72.7%) and diabetes mellitus (50%) were the most commonly associated conditions. Most of the patients with diabetes mellitus (90.9%) had chronic renal failure due to diabetic nephropathy. All of the patients with chronic renal failure were on dialysis treatment. The other associated conditions were hepatitis (27.3%), anti-HCV Ab-positivity (13.6%), hypothyroidism (9.1%) and tuberculosis lymphadenitis (4.5%). Of the 22 patients, 13.6% were otherwise healthy, and 9.1% were renal transplant recipients. Conclusion Clinicopathological findings of our study indicate that the cases with APD represent the broad spectrum of perforating disorders rather than the variants of the same disease. Although APD is frequently associated with diabetes mellitus and chronic renal failure, this skin disorder may also develop in patients with other systemic disorders, and in those without any medical problems. This skin disease is probably linked to dialysis treatment in patients with chronic renal failure due to diabetes mellitus or other causes.
Hepatocellular carcinoma (HCC) is rare in young children. We attempted to see if immunohistochemical and mutational-analysis studies could demonstrate that deficiency of the canalicular bile acid transporter bile salt export pump (BSEP) and mutation in ABCB11, encoding BSEP, underlay progressive familial intrahepatic cholestasis (PFIC)-or "neonatal hepatitis" suggesting PFIC-that was associated with HCC in young children. We studied 11 cases of pediatric HCC in the setting of PFIC or "neonatal hepatitis" suggesting PFIC. Archival liver were retrieved and immunostained for BSEP. Mutational analysis of ABCB11 was performed in leukocyte DNA from available patients and parents. Among the 11 nonrelated children studied aged 13-52 months at diagnosis of HCC, 9 (and a full sibling, with neonatal hepatitis suggesting PFIC, of a tenth from whom liver was not available) had immunohistochemical evidence of BSEP deficiency; the eleventh child did not. Mutations in ABCB11 were demonstrated in all patients with BSEP deficiency in whom leukocyte DNA could be studied (n ؍ 7). These mutations were confirmed in the parents (n ؍ 14). With respect to the other 3 children with BSEP deficiency, mutations in ABCB11 were demonstrated in all 5 parents in whom leukocyte DNA could be studied. Thirteen different mutations were found. In conclusion, PFIC associated with BSEP deficiency represents a previously unrecognized risk for HCC in young children. Immunohistochemical evidence of BSEP deficiency correlates well with demonstrable mutation in ABCB11.
For several years, the lack of consensus on definition, nomenclature, natural history, and biology of serrated polyps (SPs) of the colon has created considerable confusion among pathologists. According to the latest WHO classification, the family of SPs comprises hyperplastic polyps (HPs), sessile serrated adenomas/polyps (SSA/Ps), and traditional serrated adenomas (TSAs). The term SSA/P with dysplasia has replaced the category of mixed hyperplastic/adenomatous polyps (MPs). The present study aimed to evaluate the reproducibility of the diagnosis of SPs based on currently available diagnostic criteria and interactive consensus development. In an initial round, H&E slides of 70 cases of SPs were circulated among participating pathologists across Europe. This round was followed by a consensus discussion on diagnostic criteria. A second round was performed on the same 70 cases using the revised criteria and definitions according to the recent WHO classification. Data were evaluated for inter-observer agreement using Kappa statistics. In the initial round, for the total of 70 cases, a fair overall kappa value of 0.318 was reached, while in the second round overall kappa value improved to moderate (kappa = 0.557; p < 0.001). Overall kappa values for each diagnostic category also significantly improved in the final round, reaching 0.977 for HP, 0.912 for SSA/P, and 0.845 for TSA (p < 0.001). The diagnostic reproducibility of SPs improves when strictly defined, standardized diagnostic criteria adopted by consensus are applied.
Diagnostic pitfalls in the evaluation of fine needle aspiration cytology of the thyroid: correlation with histopathology in 260 cases Objectives: Fine needle aspiration cytology (FNAC) of the thyroid is a non-invasive, cost-effective screening procedure that is valuable for distinguishing neoplastic lesions from non-neoplastic nodules. The aim of this study was to determine the diagnostic accuracy of FNACs performed at our institution by correlating FNAC results with histopathological diagnoses. Methods: Two hundred and seventy-one aspiration cytology specimens followed by thyroidectomy were included in the study, and the results of 260 adequate FNACs were compared with their histological diagnoses. Results: The sensitivity and specificity of thyroid FNAC for detecting neoplasia were 92.6% and 91.6%, respectively. There were 15 (5.7%) false positives and six (2.3%) false negatives. Conclusions:The results showed that follicular cells that exhibit some of the features of papillary carcinoma could be observed in a cytology slide of HashimotoÕs thyroiditis, leading to a diagnostic pitfall. In addition, cellularity and overlapping cytological criteria in hyperplasia might lead to a false diagnosis.Keywords: diagnostic pitfalls, fine needle aspiration cytology, thyroid gland, cytodiagnosis, sensitivity, specificity Clinically detectable thyroid nodules occur in approximately 4-10% of the population; however, only 5-30% of the nodules are malignant, and a distinction between benign and malignant lesions is not easy to make on clinical presentation alone.1,2 The main goal of thyroid fine needle aspiration cytology (FNAC) is to identify the nodules that require surgery and decrease the overall incidence of thyroidectomy in patients with benign disease. However, there are some difficulties and limitations of diagnosis with FNAC, in that both false-negative and false-positive results can occur. 3 The most significant difficulty in making a diagnosis is the overlapping features of different lesions such as nodular goitre and follicular neoplasms. 1The current study was undertaken to evaluate the correlation between thryoid FNAC and histology and to determine the sources of diagnostic errors. MethodsBetween 1996 and 2005, 4352 thyroid FNACs were evaluated at Bas¸kent University and were subsequently reviewed. A total of 271 aspirations followed by thyroidectomy were evaluated and the cytology compared with the final histological diagnoses. Histological sections were evaluated in a multidisciplinary setting together with the review of the previous FNAC results. FNACs of thyroid were reported by only four pathologists, whereas seven pathologists, including these four, reported surgical specimens in our institute. All of the thyroid FNACs performed at Bas¸kent University were carried out under ultrasound (US) guidance [Hitachi, EUB 6500; Hitachi Medical Systems (S) Pte Ltd, Singapore] by a radiologist. Linear transducers, ‡ 7.5 MHz in frequency, were
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