Mortality and prognostic factors in patients with bullous pemphigoid: a retrospective multicenter Italian study.

INTRODUCTION: Bullous pemphigoid is the most common autoimmune bullous dermatosis. In recent years several studies have tried to identify the main factors of the disease related with an increased risk of death. The aim of this multicenter Italian study was to assess the risk score of death considering epidemiologic, clinical, immunological, and therapeutic factors in a cohort of patients affected by bullous pemphigoid and try to identify the cumulative survival up to 120 months. METHODS: We retrospectively reviewed the medical records of patients with bullous pemphigoid who were diagnosed between 2005 and 2020 in the 12 Italian centers. Data collected included sex, age at the time of diagnosis, laboratory findings, severity of disease, time at death/censoring, treatment, and multimorbidity. RESULTS: A total of 572 patients were included in the study. The crude mortality rate was 20.6%, with an incidence mortality rate of 5.9 × 100 person/year. The mortality rate at 1, 3, 5, and 10 years was 3.2%, 18.2%, 27.4% and 51.9%, respectively. Multivariate model results showed that the risk of death was significantly higher in patients older than 78 years, in presence of multimorbidity, anti-BP180 autoantibodies >72 U/mL, or anti-BP230 > 3 U/mL at diagnosis. The variables jointly included provided an accuracy (Harrel's Index) of 77% for predicting mortality. CONCLUSION: This study represents the first nationwide Italian study to have retrospectively investigated the mortality rates and prognostic factors in patients with bullous pemphigoid. A novel finding emerged in our study is that a risk prediction rule based on simple risk factors (age, multimorbidity, steroid-sparing drugs, prednisone use, and disease severity) jointly considered with two biomarkers routinely measured in clinical practice (anti-BP230 and anti-BP180 autoantibodies) provided about 80% accuracy for predicting mortality in large series of patients with this disease.

Phenotyping congestion in patients with acutely decompensated heart failure with preserved and reduced ejection fraction: The Decongestion duRing therapY for acute decOmpensated heart failure in HFpEF vs HFrEF- DRY-OFF study.

AIMS: To evaluate pulmonary and intravascular congestion at admission and repeatedly during hospitalization for acute decompensated heart failure (ADHF) in HFrEF and HFpEF patients using lung (LUS) and inferior vena cava (IVC) ultrasound. METHODS AND RESULTS: Three-hundred-fourteen patients (82±9 years; HFpEF =172; HFrEF=142) admitted to Internal Medicine wards for ADHF were enrolled in a multi-center prospective study. At admission HFrEF presented higher indexes of pulmonary and intravascular congestion (LUS-score: 0.9 ±â€¯0.4 vs 0.7 ±â€¯0.4; p<0.01; IVC end-expiratory diameter: 21.6 ±â€¯5.1 mm vs 20±5.5 mm, p<0.01; IVC collapsibility index 24.4 ±â€¯17.4% vs 30.9 ±â€¯21.1% p<0.01) and higher Nt-proBNP values (8010 vs 3900 ng/l; p<0.001). At discharge, HFrEF still presented higher B-scores (0.4 ±â€¯4 vs 0.3 ±â€¯0.4; p = 0.023), while intravascular congestion improved to a greater extent, thus IVC measurements were similar in the two groups. No differences in diuretic doses, urine output, hemoconcentration, worsening renal function were found. At 90-days follow up HF readmission/death did not differ in HFpEF and HFrEF (28% vs 31%, p = 0,48). Residual congestion was associated with HF readmission/death considering the whole population; while intravascular congestion predicted readmission/death in the HFrEF, no association between sonographic indexes and the outcome was found in HFpEF. CONCLUSIONS: Serial assessment of pulmonary and intravascular congestion revealed a higher burden of fluid overload in HFrEF and, conversely, a greater reduction in intravascular venous congestion with diuretic treatment. Although other factors beyond EF could play a role in congestion/decongestion patterns, our data may be relevant for further phenotyping HF patients, considering the importance of decongestion optimization in the clinical approach.

Primary pseudomyogenic hemangioendothelioma of bone: case report and review of the literature.

Pseudomyogenic hemangioendothelioma (PMH) represents a multicentric recently characterized tumor type, generally presenting in young adults, of postulated vascular origin and intermediate malignancy. This entity tends to arise in the deep-seated dermal-subcutaneous locations, preferentially limited to one anatomic site, and may extend secondary to bone. PMH restricted to the skeletal system is rare. To our knowledge, only 19 cases with description of both histologic and clinical findings have been reported to date. We report the clinicopathological features of a further intraosseous PMH occurring in a 46-year-old woman involving the right patella. Histologic examination showed an infiltrating growth composed of sheets and fascicles of spindled to epithelioid large cells, with ample eosinophilic cytoplasm, large vesicular nuclei and prominent nucleoli, sometimes resembling rhabdomyoblastic tumor cells, without morphologic signs of vascular differentiation. At immunohistochemical examination, neoplastic cells stained diffusely for AE1/AE3 keratins, vimentin, ERG, FLI-1, INI-1, FOSB with only focal CD31 expression.The morphologic clues leading to the correct diagnosis of intraosseous PMH have been correlated with the data of the literature, and a special emphasis has been given to the differential diagnosis with other neoplasms, particularly epithelioid sarcoma, in order to avoid unnecessary radical surgery and to optimise possible treatment protocols.

Unclassified sex cord/gonadal stromal testis tumor with a "pure" spindle cell component: a case report.

Unclassified sex cord/gonadal stromal tumors (SCSTs) composed predominantly of spindle cells are rare. Very few cases have been documented to date. Here, we report a case of "pure" spindle cell tumor of the left testis in a 83-year old man whose morphological and immunohistochemical findings were consistent with a diagnosis of unclassified SCST and review the literature. Owing to the spindle cell pattern, the differential diagnosis with other benign and malignant spindle cell lesions is discussed.

Tall cell variant of papillary breast carcinoma: an additional case with review of the literature.

Papillary lesions of the breast can be one of the most challenging aspects of mammary pathology because of a wide morphologic spectrum that may be encountered in these lesions. An unusual breast tumor has been first classified as "breast tumor resembling the tall cell variant of papillary thyroid carcinoma" and subsequently renamed "tall cell variant of papillary breast carcinoma". To our knowledge, only 13 cases of this neoplasm have been reported so far. Metastasis to the breast is not an uncommon event and about 5% of all such cases are of the thyroid origin. We report the clinico-pathological and immunohistochemical features, together with a molecular screening for BRAF mutations, of an additional case of tall cell variant of papillary breast carcinoma occurring in a 65-year-old woman. The immunohistochemical and molecular clues leading to the correct diagnosis have been correlated with the data of the literature. Tall cell variant of papillary breast carcinoma represents a unique histologic subtype of mammary carcinoma of probably low malignant potential which has to be recognized to avoid misdiagnosis as metastatic carcinoma from the thyroid.

Primary synovial sarcoma of the kidney. A case report with pathologic appraisal investigation and literature review.

Synovial sarcoma (SS) is a soft tissue neoplasm with clearly defined histologic, immunohistochemical and molecular features that usually arises in the extremities of young adults. The occurrence of these tumors in the kidney is extremely rare and have been prevalently described in case reports. The objectives of this work were to evaluate the frequency of primary renal synovial sarcomas and the pathologic progression in recognition of this possibly under-diagnosed entity. A comprehensive review of the literature has also been performed with a focus on survival. We report the clinico-pathological features of an intrarenal SS occurring in a 67-year-old man. The tumour, measuring 4 cm in its greatest diameter, completely replaced the cortex and the medulla of the inferior region of the left kidney compressing the iliopsoas muscle. Radiological imaging was consistent with a renal cell carcinoma. Histologically, the tumour was composed of atypical monotonous vimentin+, CD99+, bcl-2+ spindle cells exhibiting a haphazard fascicular growth pattern and a high mitotic rate (3 to 5 mitoses per HPF). The diagnosis was supported by reverse transcription-polymerase chain reaction which demonstrated SYT-SSX2 gene fusion. The patient was alive with local recurrence of disease 24 months after surgery. Synovial sarcomas occurring in the kidney, in analogy to other sites, tend to have an aggressive biologic behaviour. Despite being extremely uncommon, with only 44 cases reported to date, they should be included in the differential diagnosis of benign and malignant spindle cell tumours of the kidney. This study also emphasizes the importance of a correct pathologic diagnosis for prognostic and therapeutic implications.

Nijmegen breakage syndrome-associated T-cell-rich B-cell lymphoma: case report.

In 1981 Weemaes et al. first described the Nijmegen breakage syndrome (NBS), a rare autosomal recessive disorder characterized by stunted growth, microcephaly, immunodeficiency, spontaneous chromosome instability, and a peculiar predisposition to cancer development. Most NBS-related malignancies are lymphomas, but their pathologic features have rarely been specified. We report here the case of a northern Italian 8-year-old child who, 2 years after the diagnosis of NBS, developed a diffuse large B-cell lymphoma (T cell-rich B-cell lymphoma variant). The histological and immunobiological features of the lymphoma population are analyzed and discussed in detail.