Different mutational profiles of subcutaneous panniculitis-like T-cell lymphoma and lupus panniculitis: an additional case series.

BACKGROUND AND OBJECTIVE: subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic T-cell lymphoma with indolent behavior, mostly present in women and associated with immunological diseases whose pathogenic background is still poorly understood. SPTCL is associated with lupus erythematosus panniculitis (LEP) and histologically misdiagnosed. OBJECTIVES: the aim of our study was to identify mutations affecting the pathogenesis of both SPTCL and LEP. MATERIALS AND METHODS: we studied a total of 10 SPTCL and 10 LEP patients using targeted Next Generation Sequencing and pyrosequencing. Differences in gene expression between molecular subgroups were investigated using NanoString technology. Clinical data were collected, and correlations sought with the molecular data obtained. RESULTS: the mutational profile of SPTCL and LEP is different. We identified fewer pathogenic mutations than previously reported in SPTCL, noting a single HAVCR2-mutated SPTCL case. Interestingly, 40% of our SPTCL cases showed the pathogenic TP53 (p.Pro72Arg) (P72R) variant. Although cases showing HAVCR2 mutations or the TP53 (P72R) variant had more severe symptomatic disease, none developed hemophagocytic syndrome (HPS). Furthermore, TP53 (P72R)-positive cases were characterized by a lower metabolic signaling pathway and higher levels of CD28 expression and Treg signaling genes. In addition, 30% of our cases featured the same mutation (T735C) of the epigenetic modificatory gene DNMT3A. None of the LEP cases showed mutations in any of the studied genes. CONCLUSIONS: the mutational landscape of SPTCL is broader than previously anticipated. We describe, for the first time, the involvement of the TP53 (P72R) pathogenic variant in this subgroup of tumors, consider the possible role of different genetic backgrounds in the development of SPTCL, and conclude that LEP does not follow the same pathogenic pathway as SPTCL.

Prurigiform Angiomatosis: A New Term for Describing the Prominent Dermal Angiomatoid Proliferation Underlying Epidermal Changes in Prurigo Nodularis/Lichen Simplex Chronicus. / Angiomatosis prurigiforme: una nueva entidad propuesta para la proliferación angiomatoide dérmica prominente subyacente a los cambios epidérmicos de prurigo nodularis/liquen simple crónico.

Vascular hyperplasia is a common finding in prurigo nodularis/lichen simplex chronicus (LSC). The term prurigiform angiomatosis was recently proposed to describe a histologic pattern characterized by prominent vascular hyperplasia in patients with LSC. The aim of this study was to identify cases of LSC with this pattern and analyze associations with clinical and pathologic features and disease course. We reviewed 54 cases of histologically confirmed LSC and detected findings consistent with prurigiform angiomatosis in 10 (18.5%). The patients (7 men, 3 women) had a mean age of 59.7 years. The lesions were pruritic and predominantly located on the extremities and trunk. The most notable histologic finding was vascular proliferation in the superficial dermis associated with a lymphocytic inflammatory infiltrate. Recognition of prurigiform angiomatosis is important as it helps not only to distinguish LSC from other entities (mainly vascular tumors) but also to detect lesions that need to be surgically excised due to poor response to topical treatment.

Granulomas en dermatopatología: principales entidades. Parte I / Granulomas in Dermatopathology: Principal Diagnoses - Part 1

En esta serie de 2 artículos realizamos una revisión de las principales entidades dermatopatológicas que cursan con granulomas. Esta primera parte se ha centrado en la aclaración de los conceptos, la presentación de los tipos de granulomas y de las células gigantes, así como en entidades muy diversas de origen no infeccioso. Algunas de ellas de origen metabólico, como la necrobiosis lipoídica: otras relacionadas con linfomas, como la micosis fungoides granulomatosa, y otras tan extendidas que casi resultan un problema cotidiano en las consultas de dermatología, como la rosácea (AU)

This series of 2 articles on dermatopathologic diagnoses reviews conditions in which granulomas form. Part 1 clarifies concepts, discusses the presentation of different types of granulomas and giant cells, and considers a large variety of noninfectious diseases. Some granulomatous diseases have a metabolic origin, as in necrobiosis lipoidica. Others, such as granulomatous mycosis fungoides, are related to lymphomas. Still others, such as rosacea, are so common that dermatologists see them nearly daily in clinical practice (AU)

Granulomas en dermatopatología: principales entidades. Parte II / Granulomas in Dermatopathology: Principal Diagnoses — Part 2

Esta es la segunda parte de una serie dedicada a la patología granulomatosa en la biopsia cutánea. Mientras que en la primera parte hablamos, entre otras, de algunas condiciones metabólicas y tumorales, esta segunda parte abordará fundamentalmente patología infecciosa de diversos tipos, junto con otras condiciones relativamente frecuentes en las consultas de dermatología (AU)

Part 2 of this series on granulomatous diseases focuses on skin biopsy findings. Whereas the first part treated noninfectious conditions (metabolic disorders and tumors, among other conditions), this part mainly deals with various types of infectious disease along with other conditions seen fairly often by clinical dermatologists (AU)

Granulomas in Dermatopathology: Principal Diagnoses - Part 1. / Granulomas en dermatopatología: principales entidades. Parte I.

This series of 2 articles on dermatopathologic diagnoses reviews conditions in which granulomas form. Part 1 clarifies concepts, discusses the presentation of different types of granulomas and giant cells, and considers a large variety of noninfectious diseases. Some granulomatous diseases have a metabolic origin, as in necrobiosis lipoidica. Others, such as granulomatous mycosis fungoides, are related to lymphomas. Still others, such as rosacea, are so common that dermatologists see them nearly daily in clinical practice.

Granulomas in Dermatopathology: Principal Diagnoses - Part 2. / Granulomas en dermatopatología: principales entidades. Parte II.

Part 2 of this series on granulomatous diseases focuses on skin biopsy findings. Whereas the first part treated noninfectious conditions (metabolic disorders and tumors, among other conditions), this part mainly deals with various types of infectious disease along with other conditions seen fairly often by clinical dermatologists.

Dermatopatología de la oclusión intraluminal vascular: parteII (coagulopatías, émbolos y miscelánea) / Clinical and Histopathologic Characteristics of the Main Causes of Vascular Occusion - Part II: Coagulation Disorders, Emboli, and Other

La patología vascular oclusiva es causante de diversas y variadas manifestaciones clínicas, algunas de ellas con catastróficas consecuencias para el paciente. Dado que las causas de tal oclusión son muy variadas, hemos abordado en un artículo previo reciente en esta misma revista las causas trombóticas. En el presente artículo recopilamos diversas causas adicionales de oclusión intravascular

Vascular occlusion has multiple, diverse clinical manifestations, some of which can have grave consequences for patients. It also has a wide variety of causes, including thrombi, which we recently addressed in part I of this review. In this second part, we look at additional causes of vascular occlusion

Dermatopatología de la oclusión intraluminal vascular: parte I (trombos) / Clinical and Histopathologic Characteristics of the Main Causes of Vascular Occlusion - Part I: Thrombi

La patplogía vascular oclusiva es causante de diversas y variadas manifestaciones clínicas, algunas de las cuales son de catastróficas consecuencias para el paciente. Sin embargo, las causas de tal oclusión son muy variadas, extendiéndose desde trombos por acción descontrolada de los mecanismos de coagulación, hasta anomalías de los endotelios de los vasos u oclusión por materiales extrínsecos. En una serie de dos artículos hacemos una revisión de las principales causas de oclusión vascular, resumiendo sus manifestaciones clínicas principales y los hallazgos histopatológicos fundamentales. Esta primera parte corresponde a las oclusiones vasculares que cursan con trombos

Vascular occlusion has multiple, diverse clinical manifestations, some of which can have grave consequences for patients. The causes of vascular occlusion are also highly variable, ranging from thrombi triggered by the uncontrolled activation of coagulation mechanisms, on the one hand, to endothelial dysfunction or occlusion by material extrinsic to the coagulation system on the other. In a 2-part review, we look at the main causes of vascular occlusion and the key clinical and histopathologic findings. In this first part, we focus on vascular occlusion involving thrombi

Ex vivo confocal microscopy performs real-time assessment of renal biopsy in non-neoplastic diseases.

BACKGROUND: Ex vivo confocal microscopy is a technique for tissue examination, which generates images of fresh samples with an optical resolution comparable to those obtained by conventional pathology. The objective of this study was to evaluate the feasibility of using ex vivo confocal microscopy in fusion mode (reflectance and fluorescence) and the H&E-like digital staining that is obtained for the analysis of non-neoplastic kidney biopsies. METHODS: Twenty-four renal samples acquired from autopsies were scanned in a 4th generation ex vivo confocal microscopy device. The imaging process was completed in an average of three minutes. RESULTS: Confocal images correlated very well to the corresponding conventional histological sections, both in normal tissue and in chronic lesions (glomerulosclerosis, fibrosis and tubular atrophy). The ex vivo confocal microscopy protocol did not add artifacts to the sample for the ulterior study with light microscopy, nor to the histochemical or immunohistochemical studies. CONCLUSION: The ease and speed of grayscale and fluorescence image acquisition, together with the quality of the H&E-like digitally stained images obtained with this approach, suggest that this technique shows promise for use in clinical nephrology and renal transplantation.

Clinical and Histopathologic Characteristics of the Main Causes of Vascular Occusion - Part II: Coagulation Disorders, Emboli, and Other. / Dermatopatología de la oclusión intraluminal vascular: parteII (coagulopatías, émbolos y miscelánea).

Vascular occlusion has multiple, diverse clinical manifestations, some of which can have grave consequences for patients. It also has a wide variety of causes, including thrombi, which we recently addressed in partI of this review. In this second part, we look at additional causes of vascular occlusion.

Clinical and Histopathologic Characteristics of the Main Causes of Vascular Occlusion - Part I: Thrombi. / Dermatopatología de la oclusión intraluminal vascular: parte I (trombos).

Vascular occlusion has multiple, diverse clinical manifestations, some of which can have grave consequences for patients. The causes of vascular occlusion are also highly variable, ranging from thrombi triggered by the uncontrolled activation of coagulation mechanisms, on the one hand, to endothelial dysfunction or occlusion by material extrinsic to the coagulation system on the other. In a 2-part review, we look at the main causes of vascular occlusion and the key clinical and histopathologic findings. In this first part, we focus on vascular occlusion involving thrombi.