Angiosarcoma of the penis is an exceptionally rare mesenchymal tumor, with only about 30 cases documented in the literature. Because of its rarity and the often nonspecific clinical presentation, histopathological examination plays a critical role in accurate diagnosis. Angiosarcoma of the penis typically arises in the corpus cavernosum but has also been reported in the glans and urethra, often presenting with metastases.
View Article and Find Full Text PDFSchistosomiasis is a tropical infection endemic to developing nations that can result in chronic liver damage, renal failure, infertility, and bladder cancer. Genitourinary localization is marked by dysuria, visible hematuria, and urinary obstruction. We present the case of a 17-year-old male adolescent from a rural area of Central Africa, who arrived in Italy two years prior, exhibiting hematuria and urinary symptoms.
View Article and Find Full Text PDFHidradenitis suppurativa (HS) poses diagnostic challenges due to its clinical overlap with various skin conditions and neoplasms, potentially leading to misdiagnoses. The absence of a definitive diagnostic test and infrequent use of histopathology contribute to diagnostic complexities, exacerbated by the recent increased focus on HS. Three cases initially diagnosed and treated as HS underwent clinical work-up and skin biopsies to resolve diagnostic complexities.
View Article and Find Full Text PDFTuberculosis (TB) continues to be a major public health issue, with high mortality rates reported worldwide. It is worth noting that most of the hospitalizations for tuberculosis in the Sicilian region involve Italian-born individuals, underscoring the need to address this problem. Recent research on the geographic area and seasonality of infectious diseases, including tuberculosis, may aid in developing effective preventive measures.
View Article and Find Full Text PDFMultiple myeloma (MM) is a disease which remains incurable. One of the main reasons is a weakened immune system that allows MM cells to survive. Therefore, the current research is focused on the study of immune system imbalance in MM to find the most effective immunotherapy strategies.
View Article and Find Full Text PDFMelanotic cutaneous lupus erythematosus (LE) is a newly described clinical variant of chronic cutaneous LE, presenting with localized or diffuse brownish or grayish macular and reticulated pigmentation in the absence of erythema, scaling, atrophy, scarring, or telangiectasia. The diagnosis is based upon histopathology, which demonstrates the characteristic features of LE with an interface vacuolar dermatitis with melanophages, and a superficial and deep, perivascular and periadnexal lymphocytic infiltrate with mucin deposition. Herein, we describe a case of a 61-year-old White male presenting with melanotic cutaneous LE with a blaschkoid distribution on his face in which the histopathological phenomenon of "true melanocytic nests" in the setting of a lichenoid pattern was seen.
View Article and Find Full Text PDFLichen Planus Pigmentosus (LPP) is an uncommon variant of lichen planus characterized by the development of dark greyish-brown macules and patches primarily affecting sun-exposed areas. Histologically, it presents with lichenoid interface dermatitis with many melanophages. In select cases, the presence of melanocytic nests or pseudomelanocytic nests within LPP lesions has been documented, posing a diagnostic challenge.
View Article and Find Full Text PDFDrug reaction with eosinophilia and systemic symptoms (DRESS) is a severe and potentially life-threatening drug hypersensitivity reaction. The diagnosis and management of DRESS are complicated due to its heterogeneous clinical and pathologic presentations, delayed onset of signs and symptoms, and unpredictable outcome. This retrospective study aimed to analyze cases of DRESS from a single Italian referring tertiary hospital center (Grande Ospedale Metropolitano Niguarda, Milan, Italy) with a focus on clinical features, causative drugs, histopathologic findings, and treatment.
View Article and Find Full Text PDFDeregulated expression of lineage-affiliated transcription factors (TFs) is a major mechanism of oncogenesis. However, how the deregulation of nonlineage affiliated TF affects chromatin to initiate oncogenic transcriptional programs is not well-known. To address this, we studied the chromatin effects imposed by oncogenic MAF as the cancer-initiating driver in the plasma cell cancer multiple myeloma.
View Article and Find Full Text PDFBackground: COronaVIrus Disease 19 (COVID-19) is associated with a wide spectrum of skin manifestations, but SARS-CoV-2 RNA in lesional skin has been demonstrated only in few cases.
Objective: The objective of this study was to demonstrate SARS-CoV-2 presence in skin samples from patients with different COVID-19-related cutaneous phenotypes.
Methods: Demographic and clinical data from 52 patients with COVID-19-associated cutaneous manifestations were collected.
Adverse cutaneous reactions after COVID-19 vaccinations have increased, highlighting not only how SARS-CoV-2 infection but also COVID-19 vaccines may induce adverse cutaneous manifestations. We evaluated the clinical and pathologic spectrum of mucocutaneous reactions after COVID-19 vaccinations, observed consecutively within three large tertiary centers of the Metropolitan City of Milan (Lombardy), comparing our results with the currently available literature. We retrospectively reviewed medical records and skin biopsies of patients diagnosed with mucocutaneous adverse events after COVID-19 vaccinations and followed at three Italian tertiary referral centers in the Metropolitan City of Milan.
View Article and Find Full Text PDFMorgellons disease is a rare condition characterized by patient-reported multicolored fibers and other nonorganic particles or organic particles embedded in and protruding from diffuse skin ulcerations. Although the scientific community is prone to believe that Morgellons disease is a psychiatric disorder, an infectious pathogenesis associated with Borrelia burgdorferi in the setting of Lyme disease has also been proposed. The histopathology is usually considered as nonspecific.
View Article and Find Full Text PDFBackground: Motivated by a case finding of Mediterranean spotted fever (MSF) associated with atypical pneumonia and pleural effusion in which was identified by molecular methods in the pleural fluid, we wanted to summarize the clinical presentations of rickettsiosis in Italy by systematic research and to make a systematic review of all the global cases of rickettsiosis associated with pleural effusion.
Methods: For the literature search, the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) methodology was followed. We chose to select only the studies published in last 25 years and confirmed both with serological and molecular assays.
Understanding the biological and clinical impact of copy number aberrations (CNAs) on the development of precision therapies in cancer remains an unmet challenge. Genetic amplification of chromosome 1q (chr1q-amp) is a major CNA conferring an adverse prognosis in several types of cancer, including in the blood cancer multiple myeloma (MM). Although several genes across chromosome 1 (chr1q) portend high-risk MM disease, the underpinning molecular etiology remains elusive.
View Article and Find Full Text PDFIntellectual disability (ID) is characterized by impairments in the cognitive processes and in the tasks of daily life. It encompasses a clinically and genetically heterogeneous group of neurodevelopmental disorders often associated with autism spectrum disorder (ASD). Social and communication abilities are strongly compromised in ASD.
View Article and Find Full Text PDFOne of the most common patterns of presentations that have been described in COVID-19 patients includes the erythematous/papular/morbilliform eruptions. However, actually, the diffuse exanthems containing macules and papules were not specific to COVID-19, and even histopathology does not show any specific signs that could help to differentiate COVID-19 skin lesions from non-COVID-19 causes such as drugs or other viral infections. We present the case of a COVID-19-positive woman with a morbilliform rash, whose skin biopsy showed the presence of some peculiar cytopathic epidermal changes that could represent a possible distinctive histopathological feature related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection The presence of viral particles in the keratinocytes with additional positivity of endothelial cells and eccrine glands by immunohistochemistry using an anti-SARS-CoV-2 Spike S1 antibodies supports a causal relation of the lesions with SARS-CoV-2 infection.
View Article and Find Full Text PDFInt J Biochem Cell Biol
November 2021
Growth factor receptors (GFRs) and receptor tyrosine kinases (RTK) are groups of proteins mediating a plethora of physiological processes, including cell growth, proliferation, survival, differentiation and migration. Under certain circumstances, expression of GFRs and subsequently their downstream kinase signaling are deregulated by genetic, epigenetic, and somatic changes leading to uncontrolled cell division in many human diseases, most notably cancer. Cancer cells rely on growth factors to sustain the increasing need to cell division and metabolic reprogramming through cancer-associated activating mutations of their receptors (i.
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