Hydroa Vacciniforme Research Articles

Atypical Presentation of Adult-Onset Hydroa Vacciniforme with Direct Immunofluorescence Positivity—A Case Report

Atypical Presentation of Adult-Onset Hydroa Vacciniforme with Direct Immunofluorescence Positivity—A Case Report

54636 Clinical Features and Disease Course of Hydroa Vacciniforme: A Systematic Review

54636 Clinical Features and Disease Course of Hydroa Vacciniforme: A Systematic Review

Highly sensitive detection of Epstein-Barr virus-infected cells by EBER flow FISH.

When Epstein-Barr virus (EBV) infection is suspected, identification of infected cells is important to understand the pathogenesis, determinine the treatment strategy, and predict the prognosis. We used the PrimeFlow™ RNA Assay Kit with a probe to detect EBV-encoded small RNAs (EBERs) and multiple surface markers, to identify EBV-infected cells by flow cytometry. We analyzed a total of 24 patients [11 with chronic active EBV disease (CAEBV), 3 with hydroa vacciniforme lymphoproliferative disorder, 2 with X-linked lymphoproliferative disease type 1 (XLP1), 2 with EBV-associated hemophagocytic lymphohistiocytosis, and 6 with posttransplant lymphoproliferative disorder (PTLD)]. We compared infected cells using conventional quantitative PCR methods and confirmed that infected cell types were identical in most patients. Patients with CAEBV had widespread infection in T and NK cells, but a small amount of B cells were also infected, and infection in patients with XLP1 and PTLD was not limited to B cells. EBV-associated diseases are believed to be complex pathologies caused by EBV infecting a variety of cells other than B cells. We also demonstrated that infected cells were positive for HLA-DR in patients with CAEBV. EBER flow FISH can identify EBV-infected cells with high sensitivity and is useful for elucidating the pathogenesis.

Diagnosis and Management of Hydroa Vacciniforme

Hydroa vacciniforme (HV) is a rare photodermatoses with the most frequent onset in childhood. The exact pathogenesis of HV is still not known. This disease is a spectrum with almost similar clinical symptoms, but with a very different prognosis. Classic HV has the best prognosis, but affects the quality of life due to scar formation, while hydroa vacciniforme-like lymphoma (HVLL) is the variant with the worst prognosis. HV needs to be considered as a differential diagnosis, especially in childhood-onset photodermatoses. Classical HV must be distinguishes from hydroa vacciniforme-like lymphoproliferative disorders (HVLPD) because it is related to prognosis. There is still no consensus or guidelines on diagnosis and management for HV.

Hydroa vacciniforme in an adult male albino: A rare case report

Hydroa vacciniforme in an adult male albino: A rare case report

Hydroa vacciniforme lymphoproliferative disorder: a retrospective study of 42 paediatric cases.

Hydroa vacciniforme lymphoproliferative disorder (HVLPD) is a rare disease related to Epstein-Barr virus (EBV), mainly in children, and is an EBV-associated cutaneous T and natural killer (NK) cell lymphoproliferative disorder. The disorder in some patients may progress to EBV-associated systemic T or NK-cell lymphoma. To summarize the characteristics of HVLPD in Chinese paediatric patients and to examine the risk factors indicating poor prognosis. We performed a retrospective analysis of patients with HVLPD from the Department of Dermatology, Beijing Children's Hospital. Based on diagnosis, medical history, examination results, and immunophenotype, we analysed HVLPD in 42 paediatric cases in order to examine the clinical features, prognoses, and risk factors. Forty-two paediatric patients were enrolled, with a median onset age of five years. All patients presented with papulovesicular lesions, and 32 systemic HVLPD (sHVLPD) patients had systemic symptoms, including fever, lymphadenopathy, hepatomegaly, splenomegaly, and liver dysfunction. Of the sHVLPD cases, 13 also had severe mosquito bite allergy (SMBA). Twenty-five cases were T-type, and nine were CD56+-dominant type. Follow-up data showed that 12 patients had complete remission, and three patients died. SMBA is a risk factor for disease progression in patients with HVLPD, and the pathological CD56+-dominant phenotype is associated with poor prognosis.

O-110 - Coexpression of natural killer cell antigens by T-cell large granular lymphocytes in hydroa vacciniforme lymphoproliferative disorder and the involvement of Vδ1+ epithelial-type γδT cells

O-110 - Coexpression of natural killer cell antigens by T-cell large granular lymphocytes in hydroa vacciniforme lymphoproliferative disorder and the involvement of Vδ1+ epithelial-type γδT cells

Diagnostic and disease severity determination criteria for hydroa vacciniforme lymphoproliferative disorders and severe mosquito bite allergy.

Hydroa vacciniforme lymphoproliferative disorder (HV-LPD) and severe mosquito bite allergy (SMBA) are both cutaneous forms of Epstein-Barr virus (EBV)-associated T/natural killer (NK) cell LPDs and are closely related to chronic active EBV disease (CAEBV) and EBV-associated hemophagocytic lymphohistiocytosis (EBV-HLH). HV-LPD is further divided into classic HV, a benign subtype mediated by EBV-positive γδT cells, and systemic HV, another life-threatening subtype mainly associated with EBV-positive αβT or γδT cells. The vast majority of patients with SMBA have increased numbers of EBV-infected NK cells in the blood. Clinical symptoms of HV-LPD and SMBA often overlap in the same patient and may progress to more serious disease conditions equivalent to the systemic form of CAEBV. To define the disease spectrum of HV-LPD and SMBA, we propose the diagnostic criteria and the determination criteria for disease severity. The proposed diagnostic criteria are consistent with those for CAEBV and EBV-HLH in the guidelines for the management for CAEBV and related disorders 2023.

Clinicoprognostic Study of Hydroa Vacciniforme-like Lymphoproliferative Diseases: A Systematic Review

Background: Limited clinicopathological and prognostic data are available on hydroa vacciniforme (HV)-like lymphoproliferative diseases (HVLPD). Methods: This systematic review searched HVLPD reports in Medline via PubMed, Embase, Cochrane, and CINAHL databases in October 2020. Results: A total of 393 patients (65 classic HV, 328 severe HV/HV-like T-cell lymphoma [HVLL]) were analyzed. Among severe HV/HVLL cases, 56.0% were Asians, whereas 3.1% were Caucasians. Facial edema, hypersensitivity to mosquito bites, the onset of skin lesion, and percentage of severe HV/HVLL differed significantly by race. Progression to systemic lymphoma was confirmed in 9.4% of HVLPD patients. Death occurred in 39.7% patients with severe HV/HVLL. Facial edema was the only risk factor associated with progression and overall survival. Mortality risk was higher in Latin Americans than in Asians and Caucasians. CD4/CD8 double-negativity was significantly associated with the worst prognosis and increased mortality. Conclusion: HVLPD is a heterogeneous entity with variable clinicopathological features associated with genetic predispositions.

Coexpression of natural killer cell antigens by T-cell large granular lymphocytes in hydroa vacciniforme lymphoproliferative disorder and the involvement of Vδ1 + epithelial-type γδT cells

Hydroa vacciniforme lymphoproliferative disorder (HV-LPD) is a cutaneous variant of chronic active Epstein–Barr virus disease. We examined the coexpression of T- and natural killer (NK)-cell antigens in five patients with classic HV (cHV) and five with systemic HV (sHV). T-cell receptor (TCR) repertoire analysis was performed with high‑throughput sequencing. All five cHV patients had increased γδT cells (> 5%), whereas five sHV patients showed γδT- and αβT-cell dominance in two patients each, and a mixture of abnormal γδT and αβT cells in one. Circulating CD3 + T cells expressed CD16/CD56 at 7.8–42.3% and 1.1–9.7% in sHV and cHV, respectively. The percentage of CD16/CD56 + T cells was higher in the large granular lymphocyte or atypical T-cell fractions in sHV, but no TCR Vα24 invariant chain characteristic of NKT cells was detected. Considerable numbers of CD3 + cells expressing CD56 were observed in sHV skin infiltrates. Of the circulating γδT cells tested, TCR Vδ1 + cells characteristic of the epithelial type of γδT cells were dominant in two sHV cases. Thus, atypical αβT and γδT cells in HV-LPD can express NK-cell antigens, such as CD16 and CD56, and Vδ1 + epithelial-type γδT cells are a major cell type in some HV-LPD cases.

Abstract IA39: Pathology of AYA lymphomas: Creating a roadmap for translational research

Abstract Mature lymphomas of the adolescent and young adult population (AYA) are rare and clinically and pathobiologically distinct from those in the adult population. The pathobiologic aspects of lymphomas in the AYA population are largely unknown as most studies do not specify age groups and use diagnostic criteria that have been established for lymphomas in the adult population. B-cell lymphomas make up the majority of lymphomas in the AYA population and many are aggressive including Burkitt lymphoma, large/high grade B-cell lymphoma with 11q aberrations and diffuse large B-cell lymphoma (DLBCL), NOS. Most DLBCL, NOS arise as de novo lymphomas. They may occur as a secondary neoplasm after childhood cancer or in cancer predisposition syndromes, primary immunodeficiencies or other inherited genetic diseases (inborn error of immunity-associated lymphoid proliferations and lymphomas). Most DLBCL, NOS in the AYA population are of germinal center derivation, exhibit high proliferation index and while comprehensive studies are lacking, they are biologically distinct from adult diffuse large B-cell lymphomas with less cytogenetic complexity. Mature T-cell lymphomas are extremely rare in the AYA population and composed primarily of those driven by a dominant oncogenic tyrosine kinase (ALK+ anaplastic large cell lymphoma) or Epstein-Barr virus and most arise from T cells of the innate immune system. T-cell lymphomas arising from the adaptive immune system (nodal T follicular helper (TFH) cell lymphoma, peripheral T cell lymphoma, NOS) which are common in the adult population are rare in AYA. The most recent WHO Classification of Paediatric Tumors recognizes specific entities that are enriched in the AYA population with distinct genetic features including indolent B-cell lymphoma including pediatric-type follicular lymphomas, pediatric nodal marginal zone lymphoma and large B-cell lymphomas with IRF4 rearrangement, and EBV-associated T cell lymphoma such as systemic EBV-positive T-cell lymphoma of childhood, systemic chronic active EBV-positive disease and hydroa vacciniforme lymphoproliferative disorder. The distinct clinical and pathobiologic features of lymphomas in the AYA population provide unique opportunities for translational discoveries leveraging innovative technologies such as single cell sequencing, B and T cell immune repertoire analyses and circulating tumor DNA, that will provide insights into the interplay between the immune system, epigenetics, germline predisposition and viruses. These studies are poised to yield actionable information that impacts therapies and improve patient outcomes. Citation Format: Megan S. Lim. Pathology of AYA lymphomas: Creating a roadmap for translational research [abstract]. In: Proceedings of the Third AACR International Meeting: Advances in Malignant Lymphoma: Maximizing the Basic-Translational Interface for Clinical Application; 2022 Jun 23-26; Boston, MA. Philadelphia (PA): AACR; Blood Cancer Discov 2022;3(5_Suppl):Abstract nr IA39.

ORAL MANIFESTATIONS OF HYDROA VACCINIFORME–LIKE LYMPHOPROLIFERATIVE DISORDER: CASE SERIES

Hydroa vacciniforme–like lymphoproliferative disorder (HVLPD) is a chronic Epstein-Barr virus (EBV)-positive lymphoproliferative disease that may either present as an indolent condition or progress to a systemic T-cell lymphoma. This study presents the clinicopathologic data, microscopic findings, and EBV status of 11 cases of HVLPD with oral involvement. A male predilection (7:4) was observed, with mean patient age of 25.1 years. The lips and buccal mucosa were the most affected sites. Lesions appeared as painful ulcers. The patients also showed facial edema and erythema. Microscopic findings included moderate to severe T-cell infiltrate with angiotropism, angiocentricity, and epidermotropism. Two cases affecting the skin on the lip exhibited a periappendageal lymphocytic infiltrate. Immunohistochemistry reactions confirmed the cytotoxic T-cell (CD8+) phenotype, and in situ hybridization showed the presence of EBV in all cases. The clinical course was aggressive, and all patients died. HVLPD is a rare and aggressive disease that may show oral involvement.

Malar rash with pancytopenia

Malar rash with pancytopenia

Hydroa vacciniforme associated with EBV infection in a Moroccan child

Hydroa vacciniforme (HV) is a very rare photosensitivity disorder of childhood characterized by pruritic or painful vesicles in photo-distributed areas. We report a case of a seven-year-old male presenting with recurrent scars on the face with significant impact on psychological health. The history of the patient’s disease went back to when he was five years old and began to show eruptions on the face and forearms associated with a burning sensation, evolving recurrently with each exposure to the sun. Later, these lesions became confluent and crusted, then detached, leaving residual scars. A clinical examination revealed varioliform scars on the face, with scaly and crusted lesions on the nose and auricle (Figs. 1a – 1c). The rest of the examination revealed no adenopathy or organomegaly. Blood count, lymphocyte circulating levels, and immunophenotyping were normal and EBV serology was positive, with IgG+ and IgM-. The child refused to have a skin biopsy performed and did not return for another consultation.

EBV associated T- and NK-cell lymphoproliferative diseases: A comprehensive overview of clinical manifestations and novel therapeutic insights.

EBV is a ubiquitous virus that infects nearly all people around the world. Most infected people are asymptomatic and do not show serious sequelae, while others may develop Epstein-Barr virus (EBV)-positive T and NK-cell lymphoproliferations characterised by EBV-infected T or NK cells. These disorders are more common in Asian and Latin American people, suggesting genetic predisposition as a contributing factor. The revised WHO classification classifies the lymphoproliferative diseases as: extranodal NK/T-cell lymphoma nasal type (ENKTL), aggressive NK-cell leukemia (ANKL), primary EBV-positive nodal T or NK cell lymphoma (NNKTL), systemic EBV-positive T-cell lymphoproliferative disease of childhood (STCLC), systemic chronic active EBV infection (sys CAEBV), hydroa-vacciniforme (HV) andsevere mosquito bite allergy (SMBA). Recent advances in the molecular pathogenesis of these diseases have led to the development of new therapeutic strategies. Due to the infrequency of the diseases and broad clinicopathological overlap, the diagnosis and classification are challenging for both clinicians and pathologists. In this article, we aim to review the recent pathological findings which can be helpful for designing new drugs, clinical presentations and differential diagnoses, and suggested therapeutic interventions to provide a better understanding of these rare disorders.

The Immunogenetics of Photodermatoses.

Photodermatosis is an abnormal skin inflammatory reaction to light. The major classifications of photodermatoses are idiopathic photodermatoses, photodermatoses due to exogenous or endogenous agents, photo-exacerbated dermatoses, and photosensitive genodermatoses. In this chapter, we focus on idiopathic photodermatoses and drug-related photodermatoses and emphasize on the epidemiology and immunogenetic backgrounds. Idiopathic photodermatoses, a spectrum of diseases with abnormal responses to ultraviolet radiation (UVR), include polymorphous light eruption, actinic prurigo, hydroa vacciniforme, chronic actinic dermatitis, and solar urticaria. Young people are more susceptible to most idiopathic photodermatoses except for chronic actinic dermatitis. Interestingly, idiopathic photodermatoses exhibit different characteristics between Caucasians and Asians. For example, the average age of Asian actinic prurigo patients is older than that of Caucasians in which genetic backgrounds or Fitzpatrick skin type might play a role. Drug-induced photodermatoses can be classified into phototoxic and photoallergic drug reactions. Certain drug-induced photodermatoses may mimic other dermatoses. For instance, drug-induced lupus erythematosus (LE) should be considered if an old man is diagnosed with LE but had a poor response to standard treatments.

Hydroa Vacciniforme-like Lymphoproliferative disorder in an adult invades the liver and bone marrow with clear pathological evidence: a case report and literature review

BackgroundHydroa Vacciniforme-like Lymphoproliferative Disorder (HV-LPD) is the name given to a group of Epstein-Barr virus (EBV)-associated diseases. It resembles hydroa vacciniforme (HV), the rarest form of photosensitivity, and is a T-cell disorder associated with an Epstein-Barr virus infection. The majority of diagnosed cases occur in East Asia and South America. It is rare in the United States and Europe. Multiple studies have revealed the clinical manifestation of an enlarged liver, but no gold standard such as pathology has yet supported this as a clinical sign of HV-LPD.Case presentationHere, we report a case of a 34-year-old Asian female with definite liver invasion. The patient had complained of a recurring facial rash for many years. The patient was admitted to the hospital because of an enlarged liver. After hospitalization, she was given an EB virus nucleic acid test. The EB virus nucleic acid test was positive, and pathological examination suggested that HV-LPD had invaded the skin, bone marrow, and liver. After being given antiviral treatment, the patient’s symptoms were mitigated.ConclusionsOur case confirms the liver damage was caused by HV-LPD and the effectiveness of antiviral treatment.

Hydroa Vacciniforme and Hydroa Vacciniforme-Like Lymphoproliferative Disorder: A Spectrum of Disease Phenotypes Associated with Ultraviolet Irradiation and Chronic Epstein-Barr Virus Infection.

Hydroa vacciniforme (HV) is a rare form of photosensitivity disorder in children and is frequently associated with Epstein–Barr virus (EBV) infection, whereas HV-like lymphoproliferative disorders (HVLPD) describe a spectrum of EBV-associated T-cell or natural killer (NK)-cell lymphoproliferations with HV-like cutaneous manifestations, including EBV-positive HV, atypical HV, and HV-like lymphoma. Classic HV occurs in childhood with papulovesicules on sun-exposed areas, which is usually induced by sunlight and ultraviolet irradiation, and mostly resolves by early adult life. Unlike classic HV, atypical or severe HV manifests itself as recurrent papulovesicular eruptions in sun-exposed and sun-protected areas associated occasionally with facial edema, fever, lymphadenopathy, oculomucosal lesions, gastrointestinal involvement, and hepatosplenomegaly. Notably, atypical or severe HV may progress to EBV-associated systemic T-cell or natural killer (NK)-cell lymphoma after a chronic course. Although rare in the United States and Europe, atypical or severe HV and HV-like lymphoma are predominantly reported in children from Asia and Latin America with high EBV DNA levels, low numbers of NK cells, and T cell clones in the blood. In comparison with the conservative treatment used for patients with classic HV, systemic therapy such as immunomodulatory agents is recommended as the first-line therapy for patients with atypical or severe HV. This review aims to provide an integrated overview of current evidence and knowledge of HV and HVLPD to elucidate the pathophysiology, practical issues, environmental factors, and the impact of EBV infection.

17646 Hydroa vacciniforme-like lymphoproliferative disorder initially presenting as severe insect allergy in a 46-year-old woman

Background: Hydroa vacciniforme–like lymphoproliferative disorder (HV-LPD) is a chronic EBV-associated lymphoproliferative disorder most commonly seen in Asian and South American children. Initially thought to be a benign photodermatosis, HV-LPD is a disorder of monoclonal or rarely polyclonal T cells or NK cells.

The aim of the measurement of Epstein-Barr virus DNA in hydroa vacciniforme and hypersensitivity to mosquito bites.

Epstein-Barr virus (EBV) DNA load in the blood increases in posttransplant lymphoproliferative disorders and chronic active EBV infection. In this report, we analyzed the EBV DNA load in the peripheral blood mononuclear cells (PBMCs) and plasma of patients with hydroa vacciniforme (HV) and/or hypersensitivity to mosquito bites (HMB) to understand the clinical significance of EBV DNA load. All 30 patients showed high DNA loads in the PBMCs over the cut-off level. Of 16 plasma samples, extremely high in two samples obtained from patients with hemophagocytic lymphohistiocytosis (HLH). The amount of cell-free DNA in plasma was correlated to the serum levels of lactate dehydrogenase and inversely correlated to platelet counts. These results indicate that the EBV DNA load in PBMCs can provide one of the diagnostic indicators for HV and HMB and marked elevation of cell-free EBV DNA in plasma might be related to cytolysis such as that observed in HLH.