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Journal of Zhejiang University.... Aug 2023Composite lymphoma (CL) involving B-cell lymphoma and T-cell lymphoma is extremely rare. Herein, we report three such cases using immunohistochemistry, flow cytometry,... (Review)
Review
Composite lymphoma (CL) involving B-cell lymphoma and T-cell lymphoma is extremely rare. Herein, we report three such cases using immunohistochemistry, flow cytometry, and the next-generation sequencing (NGS) to identify the pathological and molecular characteristics of CL. In the first case, the patient was admitted to hospital for generalized pruritic maculopapular rash over the whole body. An excisional biopsy of the skin lesions showed T-cell lymphoma. At the same time, the staging bone marrow (BM) biopsy revealed a diffuse large B-cell lymphoma (DLBCL). After R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone) therapies, the patient produced a good response with substantial dissipation of the rashes and relief of skin. The other two patients were admitted to hospital due to lymphadenopathy and were diagnosed with DLBCL and follicular lymphoma (FL) after core needle biopsy of lymph nodes, BM biopsy, BM aspiration, and flow cytometry. Following R-CHOP and R-COP (rituximab, cyclophosphamide, vincristine, and prednisone) therapies, they achieved complete remission unconfirmed (CRu) and complete remission (CR). However, one or two years later, they suffered a relapse of lymphadenopathy. The shocking fact was that re-biopsy of lymphadenopathy revealed peripheral T-cell lymphoma (PTCL) and angioimmunoblastic T-cell lymphoma (AITL). NGS findings identified DNA methyltransferase 3a (), isocitrate dehydrogenase 2 (), Ras homolog gene family, member A (), splicing factor 3B subunit 1 (), and tumor protein p53 () mutations. After immunochemotherapy, these patients achieved CRu and CR again. Nevertheless, they suffered a second relapse of T-cell lymphoma. Finally, they died due to progression of disease. We found that the occurrence of CL is associated with Epstein-Barr virus infection and , , and mutations, and the prognosis of the disease is closely related to the T-cell lymphoma components.
Topics: Humans; Rituximab; Vincristine; Prednisone; Epstein-Barr Virus Infections; Herpesvirus 4, Human; Neoplasm Recurrence, Local; Lymphoma, T-Cell; Cyclophosphamide; Lymphoma, Large B-Cell, Diffuse; Doxorubicin; Lymphadenopathy; Antineoplastic Combined Chemotherapy Protocols
PubMed: 37551557
DOI: 10.1631/jzus.B2300181 -
Frontiers in Immunology 2019Autoinflammatory diseases include disorders with a monogenic cause and also complex conditions associated to polygenic or multifactorial factors. An increased number of... (Review)
Review
Autoinflammatory diseases include disorders with a monogenic cause and also complex conditions associated to polygenic or multifactorial factors. An increased number of both monogenic and polygenic autoinflammatory conditions have been identified during the last years. Although skin manifestations are often predominant in monogenic autoinflammatory diseases, clinical and histopathological information regarding their dermatological involvement is still scarce. Monogenic autoinflammatory diseases with cutaneous expression can be classified based on the predominant lesion: (1) maculopapular rashes or inflammatory plaques; (2) urticarial rashes; (3) pustular, pyogenic or neutrophilic dermatosis-like rashes; (4) panniculitis or subcutaneous nodules; (5) vasculitis or vasculopathy; (6) hyperkeratotic lesions; (7) hyperpigmented lesions; (8) bullous lesions; and (9) aphthous lesions. By using this classification, this review intends to provide clinical and histopathological knowledge about cutaneous involvement in monogenic autoinflammatory diseases.
Topics: Autoimmune Diseases; Autoimmunity; Biomarkers; Biopsy; Dermatitis; Diagnosis, Differential; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Phenotype; Skin; Symptom Assessment
PubMed: 31736939
DOI: 10.3389/fimmu.2019.02448 -
Acta Clinica Belgica Aug 2023Mastocytosis is a complex heterogenous multisystem disorder that is characterized by pathologic activation or accumulation of neoplastic mast cells (MCs) in one or more... (Review)
Review
Mastocytosis is a complex heterogenous multisystem disorder that is characterized by pathologic activation or accumulation of neoplastic mast cells (MCs) in one or more organs. This clonal MC expansion is often associated with a somatic gain-of-function mutation (D816V in most of the cases) in the KIT gene, encoding for the MC surface receptor KIT (CD117), a stem cell growth factor receptor. Based on clinical and biochemical criteria, the World Health Organization (WHO) divided mastocytosis into different subclasses. The exact prevalence of mastocytosis remains elusive, but it is estimated that the disease affects approximately 1 in 10,000 persons. The clinical presentation of mastocytosis varies significantly, ranging from asymptomatic patients to a life-threatening disease with multiple organ involvement, potentially leading to cytopenia, malabsorption, hepatosplenomegaly, lymphadenopathy, ascites or osteolytic bone lesions with pathological fractures. Patients with mastocytosis may experience symptoms related to release of MC mediators, such as flushing or diarrhea or even more severe symptoms such as anaphylaxis. Recently, a new genetic trait, hereditary alpha tryptasemia (HaT), was described which involves a copy number variation in the TPSAB1-gene. Its role as standalone multisystem syndrome is heavily debated. There is emerging evidence suggesting there might be a link between HaT and due to the increased prevalence of HaT in patients with SM. The aim of this review is to provide a practical roadmap for diagnosis and management of mastocytosis and its associated entities, since there are still many misconceptions about these topics. AdvSM: Advanced systemic mastocytosis; ASM: Aggressive systemic mastocytosis; aST: acute serum tryptase; BM: Bone marrow; BMM: Bone marrow mastocytosis; bST: baseline serum tryptase; CM: Cutaneous mastocytosis; DCM: Diffuse cutaneous mastocytosis; HVA: Hymenoptera venom allergy; HaT: Hereditary alpha tryptasemia; ISM: Indolent systemic mastocytosis; MC: Mast cell; MCA: Mast cell activation; MCAS: Mast cell activation syndrome; MCL: Mast cell leukemia; MIS: Mastocytosis in the skin; MMAS: Monoclonal mast cell activation syndrome; MPCM: Maculopapular cutaneous mastocytosis; SM: Systemic mastocytosis; SM-AHN: Systemic mastocytosis with associated hematological neoplasm; SSM: Smouldering systemic mastocytosis; VIT: Venom immunotherapy.
Topics: Humans; Mastocytosis, Systemic; Tryptases; DNA Copy Number Variations; Mastocytosis; Mastocytosis, Cutaneous
PubMed: 36259506
DOI: 10.1080/17843286.2022.2137631 -
Postepy Dermatologii I Alergologii Oct 2015Medications can cause many adverse reactions, both non-immunologic and immunologic ones. Allergies can take many forms, allergic reactions include all types of reactions... (Review)
Review
Medications can cause many adverse reactions, both non-immunologic and immunologic ones. Allergies can take many forms, allergic reactions include all types of reactions according to Gell and Coombs. Typically, allergic reactions to drugs are manifested by skin lesions such as maculopapular rash or urticaria and life-threatening systemic reactions such as anaphylaxis. Allergy to drugs is diagnosed based on medical history and a number of specific tests: skin tests, blood tests. In diagnosing the causes of anaphylaxis, the basophil activation test is used to exclude false negative and false positive results of skin tests and specific IgE levels. Allergic reactions to medications usually resolve themselves after discontinuation of the drug. Sometimes in the treatment anti-allergic drugs are used to inhibit the development of skin lesions. After observing any signs of drug allergy it is important to accurately diagnose the cause, since the subsequent exposure to the drug may lead to a strong anaphylactic reaction and consequently death.
PubMed: 26759548
DOI: 10.5114/pdia.2014.44021 -
Annales de Pathologie Feb 2018There are many different types of cutaneous adverse reactions. The most classical reactions are driven by T lymphocytes that specifically react towards a drug, with an... (Review)
Review
There are many different types of cutaneous adverse reactions. The most classical reactions are driven by T lymphocytes that specifically react towards a drug, with an individual genetic susceptibility linked to certain type I major histocompatibility complex alleles. These reactions are characterized by a wide variety of clinical and histopathological presentations, and a wide range of severity. The most frequent entity is the maculopapular rash, while the most aggressive forms are the Steven-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN). The histopathological alterations associated to each of these syndromes have been better described in the literature during the past 10 years, encompassing non-specific lesions, as in most drug induced maculopapular rashes, to more specific inflammatory patterns. The finding of confluent apoptotic keratinocytes with epidermal detachment is the prototypical aspect of SJS-TEN. There are however numerous pitfalls, and a similar aspect to those observed in each cutaneous drug reactions entities can be found in other diseases. DRESS syndrome can indeed present with dense and epidermotropic T-cell infiltrate, sometimes with nuclear atypias, and thus can be difficult to distinguish from a primary or secondary cutaneous T-cell lymphoma. The diagnosis of cutaneous adverse reactions relies on a clinical-pathological confrontation and requires an accurate evaluation of drug imputability.
Topics: Diagnosis, Differential; Drug Eruptions; Drug Hypersensitivity Syndrome; Humans; Keratinocytes; Lymphocytes; Skin Neoplasms; Stevens-Johnson Syndrome
PubMed: 29279184
DOI: 10.1016/j.annpat.2017.10.015 -
The Journal of Dermatology Mar 2023In December 2019, a new infectious pathogen named severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was identified in Wuhan, China. Transmitted through...
In December 2019, a new infectious pathogen named severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was identified in Wuhan, China. Transmitted through respiratory droplets, SARS-CoV-2 is the causative pathogen of coronavirus disease 2019 (COVID-19). Although this new COVID-19 infection is known to cause primarily interstitial pneumonia and respiratory failure, it is often associated with cutaneous manifestations as well. These manifestations with COVID-19 can be classified into seven categories: (i) chilblain-like skin eruption (e.g., COVID toes), (ii) urticaria-like skin eruption, (iii) maculopapular lesions, (iv) vesicular eruptions, (v) purpura, (vi) livedo reticularis and necrotic lesions, (vii) urticarial vasculitis, and others such as alopecia and herpes zoster. The pathogenesis of skin eruptions can be broadly divided into vasculitic and inflammatory skin eruptions. Various cutaneous adverse reactions have also been observed after COVID-19 mRNA vaccination. The major cutaneous adverse reactions are type I hypersensitivity (urticaria and anaphylaxis) and type IV hypersensitivity (COVID arm and erythema multiform). Autoimmune-mediated reactions including bullous pemphigus, vasculitis, vitiligo, and alopecia areata have also been reported. Several cases with chilblain-like lesions and herpes zoster after COVID-19 mRNA vaccination have been published. Various skin diseases associated with COVID-19 and COVID-19 vaccination have been reported, and the mechanism has been partly elucidated. In the process, for example, some papers have reported that it is not related to COVID-19 infection, although it was initially called COVID-toe and considered a COVID-19-associated cutaneous eruption. In fact, some COVID-19-associated skin reactions are indistinguishable from drug eruptions. In the future, the mechanisms of COVID-19- or COVID-19 vaccine-associated skin reactions need to be elucidated and verification of causal relationships is required.
Topics: Humans; Alopecia Areata; Chilblains; COVID-19; COVID-19 Vaccines; Exanthema; Herpes Zoster; SARS-CoV-2; Skin Diseases; Urticaria; Vaccination
PubMed: 36636825
DOI: 10.1111/1346-8138.16651 -
Head and Neck Pathology Jun 2016Secondary syphilis develops in approximately 25% of patients infected with the spirochete bacterium Treponema pallidum. It typically develops several weeks to several...
Secondary syphilis develops in approximately 25% of patients infected with the spirochete bacterium Treponema pallidum. It typically develops several weeks to several months after the primary infection, which is recognized by a painless chancre. Secondary syphilis is characterized by systemic symptoms, such as malaise and fever as well as a maculopapular rash involving the trunk and extremities including the palms and soles. Condyloma lata, which are raised, fleshy lesions, tend to develop at the site of the primary chancre. Diagnosis is achieved primarily through screening and confirmational serologic testing. Histologic findings seen in condyloma lata are largely non-specific. Therefore, a high index of suspicion should be maintained and immunohistochemical stains specific for T. pallidum should be utilized.
Topics: Adult; Chancre; Humans; Male; Mouth Diseases; Syphilis
PubMed: 25776279
DOI: 10.1007/s12105-015-0623-3 -
Diagnostics (Basel, Switzerland) Jan 2024Mastocytosis is characterized by an accumulation of clonal mast cells (MCs) in tissues such as the skin. Skin lesions in mastocytosis may be clinically subtle or... (Review)
Review
BACKGROUND
Mastocytosis is characterized by an accumulation of clonal mast cells (MCs) in tissues such as the skin. Skin lesions in mastocytosis may be clinically subtle or heterogeneous, and giving the correct diagnosis can be difficult.
METHODS
This study compiles personal experiences together with relevant literature, discussing possible obstacles encountered in diagnosing skin involvement in mastocytosis and cutaneous mastocytosis (CM).
RESULTS
The nomenclature of the term "CM" is ambiguous. The WHO classification defines CM as mastocytosis solely present in the skin. However, the term is also used as a morphological description, e.g., in maculopapular cutaneous mastocytosis (MPCM). This is often seen in systemic, as well as cutaneous, mastocytosis. Typical CM manifestations (MPCM), including mastocytoma or diffuse cutaneous mastocytosis (DCM), all share a positive Darier's sign, and can thus be clinically recognized. Nevertheless, distinguishing monomorphic versus polymorphic MPCM may be challenging, even for experienced dermatologists. Less typical clinical presentations, such as MPCM with telangiectatic erythemas (formerly called telangiectasia macularis eruptiva perstans), confluent, nodular or xanthelasmoid variants may require a skin biopsy for histopathological confirmation. Because MC numbers in CM have a large overlap to those in healthy and inflamed skin, detailed histopathological criteria to diagnose mastocytosis in MPCM are needed and have been proposed. D816V mutational analysis in tissue is helpful for confirming the diagnosis. Biomarkers allow the prediction of the course of CM into regression or evolution of the disease. Further diagnostic measures should screen for concomitant diseases, such as malignant melanoma, and for systemic involvement.
CONCLUSIONS
Whereas in typical cases the diagnosis of CM may be uncomplicated, less typical manifestations may require specific investigations for making the diagnosis and predicting its course.
PubMed: 38248039
DOI: 10.3390/diagnostics14020161 -
Dermatologic Therapy Mar 2021In this systematic review, we anticipated in summarizing clinical features, histopathological hallmarks, and possible pathology behind the maculopapular skin eruptions... (Review)
Review
In this systematic review, we anticipated in summarizing clinical features, histopathological hallmarks, and possible pathology behind the maculopapular skin eruptions occurring in Covid-19 patients. A literature search was executed using MEDLINE/PubMed and Embase databases for articles published till 20 November 2020. All eligible articles including observational studies, case reports, and case series reporting the maculopapular skin lesion in Covid-19 patients were included. Data were obtained for 354 Covid-19 patients presenting with maculopapular lesions from 40 studies. The mean age of these patients was 53 years, and with 42% of them being male. These maculopapular lesions differed considerably in terms of distribution and appearance, ranging from diffuse erythematous maculopapular lesions to scattered erythematous macules coalescing into papules to maculopapular lesions in plaques. The mean duration of the lesion was 8 days. These lesions were frequently localized on trunks and extremities. Superficial perivascular dermatitis with lymphocytic infiltrate was a histopathological hallmark of these lesions. As these skin lesions may have a possible association with diagnosis, management, prognosis, and severity of the disease, all health practitioners need to be well acquainted with these Covid-19 skin lesions. Also, in the middle of this worldwide pandemic, early identification of this eruption may help manage this infection's further spread.
Topics: COVID-19; Drug Eruptions; Exanthema; Humans; Male; Middle Aged; Pandemics; SARS-CoV-2
PubMed: 33481314
DOI: 10.1111/dth.14788 -
Journal of Cosmetic Dermatology Jan 2023COVID-19 is a highly contagious respiratory tract infection caused by severe acute respiratory syndrome coronavirus 2. COVID-19 outbreak, which caused thousands of... (Review)
Review
BACKGROUND
COVID-19 is a highly contagious respiratory tract infection caused by severe acute respiratory syndrome coronavirus 2. COVID-19 outbreak, which caused thousands of deaths, has been declared a pandemic by the World Health Organization in March 2020.
AIM
Skin manifestations related to SARS-CoV-2 infection can be divided mainly into five groups: chilblainlike lesions (CBLLs), maculopapular eruptions, urticarial eruptions, vesicular eruptions, and livedo or necrosis. Other skin findings reported are erythema multiforme (EM)-like lesions and skin findings associated with multisystem inflammatory syndrome in children (MIS-C) and rarely with multisystem inflammatory syndrome in adults (MIS-A). Other manifestations such as pityriasis rosea or shingles are also reported.
METHODS
A total of 60 articles including reviews, studies and case reports were selected for the evaluation in this review.
RESULTS
The skin manifestations associated with COVID-19 infection are numerous and can vary widely. The major dermatological patterns of COVID-19 can be classified as inflammatory reactions (maculopapular/morbilliform, urticarial and vesicular rashes), or lesions of vascular origin (chilblain like rashes, petechiae/purpura, and livedo acemose-like pattern) CONCLUSION: We believe that the dermatologist could play an important role in the response to the SARS-CoV-2 pandemic through early recognition of skin lesions suggestive of COVID-19, particularly in paucisymptomatic infections where this recognition could direct toward an early diagnosis of infection that certainly leads to a better prognosis.
Topics: Adult; Child; Humans; COVID-19; SARS-CoV-2; Skin Diseases; Purpura
PubMed: 36342945
DOI: 10.1111/jocd.15477