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    764 results match your criteria Epidermodysplasia Verruciformis

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    Re-evaluation of epidermodysplasia verruciformis: Reconciling more than 90 years of debate.
    J Am Acad Dermatol 2017 Feb 10. Epub 2017 Feb 10.
    Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem. Electronic address:
    Epidermodysplasia verruciformis (EV) is a rare genodermatosis characterized by abnormal susceptibility to cutaneous human beta-papillomavirus infections causing persistent flat warts or pityriasis versicolor-like lesions. This generalized verrucous skin disorder resembles generalized verrucosis, but these 2 conditions are distinguished by differences in clinical manifestation and the human papillomavirus types involved. A breakthrough in our understanding of EV was the discovery that homozygous inactivating mutations in TMC6 (EVER1) and TMC8 (EVER2) determine susceptibility to this disorder; however, they have not solved all EV cases fully. Read More

    Presence of cutaneous human papillomavirus DNA in squamous cell carcinoma of the scalp: a case series.
    J Eur Acad Dermatol Venereol 2017 Feb 13. Epub 2017 Feb 13.
    Dermatology Division, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.
    Various hypotheses have been put forward on the pathogenesis of squamous cell carcinoma (SCC), including chronic sun damage and exposure to ultraviolet radiation (UVR), chemicals, smoking, immunosuppressive medications and human papillomavirus (HPV)(1) . It is well known that alpha (mucosal) HPV types, in particular HPV-16 and HPV-18, are etiologically correlated to cervical cancer and other types of anogenital carcinoma and oropharyngeal papillomatosis(1) . On the contrary, the pathogenesis of squamous cell carcinoma (SCC) outside the mucosae remains obscure, and the link with HPVs has been demonstrated only in the epidermodysplasia verruciformis context(2-3) . Read More

    Cutaneous HPV8 and MmuPV1 E6 Proteins Target the NOTCH and TGF-β Tumor Suppressors to Inhibit Differentiation and Sustain Keratinocyte Proliferation.
    PLoS Pathog 2017 Jan 20;13(1):e1006171. Epub 2017 Jan 20.
    Department of Developmental, Molecular and Chemical Biology, Tufts University School of Medicine, Boston, Massachusetts, United States of America.
    Cutaneous beta-papillomaviruses are associated with non-melanoma skin cancers that arise in patients who suffer from a rare genetic disorder, Epidermodysplasia verruciformis (EV) or after immunosuppression following organ transplantation. Recent studies have shown that the E6 proteins of the cancer associated beta human papillomavirus (HPV) 5 and HPV8 inhibit NOTCH and TGF-β signaling. However, it is unclear whether disruption of these pathways may contribute to cutaneous HPV pathogenesis and carcinogenesis. Read More

    The biology of beta human papillomaviruses.
    Virus Res 2016 Nov 14. Epub 2016 Nov 14.
    International Agency for Research on Cancer, Lyon, France. Electronic address:
    The beta genus comprises more than 50 beta human papillomavirus (HPV) types that are suspected to be involved, together with ultraviolet (UV) irradiation, in the development of non-melanoma skin cancer (NMSC), the most common form of human cancer. Two members of the genus beta, HPV5 and HPV8, were first identified in patients with a genetic disorder, epidermodysplasia verruciformis (EV), that confers high susceptibility to beta HPV infection and NMSC development. The fact that organ transplant recipients (OTRs) with an impaired immune system have an elevated risk of NMSC raised the hypothesis that beta HPV types may also be involved in skin carcinogenesis in non-EV patients. Read More

    Epidermodysplasia verruciformis as a manifestation of ARTEMIS deficiency in a young adult.
    J Allergy Clin Immunol 2017 Jan 24;139(1):372-375.e4. Epub 2016 Aug 24.
    Division of Immunology, Boston Children's Hospital, Boston, Mass; Department of Pediatrics, Harvard Medical School, Boston, Mass. Electronic address:

    Beta-HPV types in patients with head and neck pathology and in healthy subjects.
    J Clin Virol 2016 Sep 28;82:159-65. Epub 2016 Jul 28.
    Department of Genetics and Microbiology, Faculty of Science, Charles University in Prague, Czech Republic. Electronic address:
    Background: Human papillomaviruses (HPV) are a heterogeneous group of viruses classified into five genera. The beta-HPV type (beta-PV) infection is very common but mostly asymptomatic in immunocompetent individuals. However, beta-PVs play a role in Epidermodysplasia verruciformis and possibly in non-melanoma skin cancer. Read More

    Cutaneous human papillomavirus genotypes in different kinds of skin lesions in Argentina.
    J Med Virol 2017 Feb 27;89(2):352-357. Epub 2016 Jul 27.
    Department of Virology, National Institute of Infectious Diseases-ANLIS "Dr. Carlos G. Malbrán", Buenos Aires, Argentina.
    Cutaneous human papillomaviruses (HPVs) comprise a large and highly heterogeneous virus group. Some of the cutaneous HPVs of the genus Beta have been suggested as a co-factor in the development of non-melanoma skin cancer (NMSC). The aim of this study was to determine cutaneous HPV prevalence and type-specific distribution in different kinds of skin lesions from Argentine patients visiting Dermatology Departments of three hospitals from Buenos Aires. Read More

    The EVER genes - the genetic etiology of carcinogenesis in epidermodysplasia verruciformis and a possible role in non-epidermodysplasia verruciformis patients.
    Postepy Dermatol Alergol 2016 Apr 16;33(2):75-80. Epub 2016 May 16.
    Department of Dermatology and Venereology, Medical University of Warsaw, Warsaw, Poland.
    In recent years, the two adjacent novel EVER1 and EVER2 genes have been identified, whose mutations are responsible for the development of epidermodysplasia verruciformis (EV). Epidermodysplasia verruciformis is a rare, autosomal recessive genodermatosis associated with increased risk of skin carcinoma. Up to now 7 mutations in the EVER1 gene and 5 mutations in the EVER2 gene have been identified only in EV. Read More

    Identification of LCK mutation in a family with atypical epidermodysplasia verruciformis with T-cell defects and virus-induced squamous cell carcinoma.
    Br J Dermatol 2016 Dec 31;175(6):1204-1209. Epub 2016 Aug 31.
    Department of Dermatology, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi, China.
    Background: Inherited epidermodysplasia verruciformis (EV) is a rare skin disorder characterized by susceptibility to specific types of human papilloma virus (HPV) and is strongly associated with skin carcinomas. Inactivating mutations in EVER1/EVER2 account for most cases of EV. However, more phenotypes related to but distinct from EV have been reported with an immunodeficiency state but without EVER1/EVER2 mutation, and the genetic basis for these atypical EV cases is poorly understood. Read More

    Keratinocyte Carcinoma as a Marker of a High Cancer-Risk Phenotype.
    Adv Cancer Res 2016 23;130:257-91. Epub 2016 Feb 23.
    Medical University of South Carolina, Charleston, SC, United States. Electronic address:
    Keratinocyte carcinoma (KC) (also referred to as nonmelanoma skin cancer) is by far the most common form of human cancer. A personal history of KC is well established to be associated with increased risk of recurrent KC and malignant melanoma, a less common yet more fatal form of skin cancer. More surprising is that a substantial body of epidemiologic evidence now indicates that a personal history of KC is significantly associated with an overall elevated risk of noncutaneous malignancies. Read More

    Lifelong widespread warts associated with human papillomavirus type 70/85: a new diagnostic entity?
    Acta Dermatovenerol Alp Pannonica Adriat 2016 ;25(1):11-3
    Dermatology Unit, Department of Clinical and Molecular Sciences, United Hospital of Ancona, Polytechnic Marche University, Ancona, Italy.
    We present a patient with HPV 70/85-positive widespread cutaneous warts characterized by clinical and histological features atypical for classic generalized verrucosis or epidermodysplasia verruciformis. The cutaneous HPV infection is characterized by verrucous papules or plaques variable in size, number, and distribution depending on the genotype of HPV involved and the immune status of the patient. Human papillomaviruses comprise five genera (alpha, beta, gamma, mu, and nu papillomavirus) with different life-cycle characteristics, epithelial tropisms, and disease associations. Read More

    Treatment of Imiquimod Resistant Epidermodysplasia Verruciformis With Ingenol Mebutate.
    J Drugs Dermatol 2016 Mar;15(3):350-2
    Background: Epidermodysplasia verruciformis (EV) is a rare genetic disorder characterized by widespread human papillomavirus (HPV) associated lesions and an increase susceptibility to cutaneous malignancies. A host of medications traditionally used to treat warty lesions have been used with variable results and limited success. To our knowledge, we describe the first reported case of a patient with Imiquimod resistant EV successfully treated with topical ingenol mebutate (Picato). Read More

    Human Papillomavirus Infection and p16 Expression in Extragenital/Extraungual Bowen Disease in Immunocompromised Patients.
    Am J Dermatopathol 2016 Oct;38(10):751-7
    *Šikl's Department of Pathology, the Faculty of Medicine and Faculty Hospital in Pilsen, Charles University in Prague, Pilsen, Czech Republic; †Bioptická laboratoř, s.r.o., Pilsen, Czech Republic; ‡Department of Pathology, Louis Pasteur University Hospital, Košice, Slovakia; and §Integrated Cancer Research Center, School of Biology and Parker H. Petit Institute of Bioengineering and Biosciences, Georgia Institute of Technology, Atlanta, GA.
    An increased rate of second nonmelanoma skin cancers is found in immunocompromised patients. Epidemiological and molecular data implicate ultraviolet radiation as the major risk factor. In addition, there is increasing evidence supporting the role of human papillomavirus (HPV) in the pathogenesis of premalignant and malignant skin lesions in both immunocompetent and immunocompromised patients. Read More

    Lesions With an Epidermal Hyperplastic Pattern: Morphologic Clues in the Differential Diagnosis.
    Am J Dermatopathol 2016 Jan;38(1):1-16; quiz 17-9
    Consultant Hisopathologist, Department of Cellular Pathology, Hospital El Bierzo, Ponferrada, Spain.
    In this report, we review the most common entities that show a epidermal hyperplastic pattern in the biopsy. These entities include inflammatory, reactive, infectious, hamartomatous, and tumoral conditions, each with a very different prognosis. Therefore, an approach based on the classic "patterns and clues" tools used in dermatopathology can bring a lot of information to the dermatopathologist or the general pathologist evaluating these lesions. Read More

    Acquired Epidermodysplasia Verruciformis Associated with Human Papilloma Virus Type 14 in a Small Bowel Transplanted Child--A Case Report.
    Pediatr Dermatol 2016 Jan-Feb;33(1):e1-5. Epub 2015 Dec 8.
    Department of Dermatology, University Hospitals Case Medical Center, Cleveland, Ohio.
    A 3-year-old African American girl taking sirolimus and tacrolimus for a small bowel transplantation presented with hypopigmented macules and papules throughout her trunk. A biopsy diagnosed epidermodysplasia verruciformis (EV) that was found to be associated with human papillomavirus (HPV) type 14 according to polymerase chain reaction analysis. There are few cases of acquired EV in the setting of organ transplantation. Read More

    The levels of epithelial anchor proteins β-catenin and zona occludens-1 are altered by E7 of human papillomaviruses 5 and 8.
    J Gen Virol 2016 Feb 8;97(2):463-72. Epub 2015 Dec 8.
    1​Institute of Virology, University of Cologne, Cologne, Germany.
    Infection with viruses of the genus Betapapillomavirus, β-human papillomaviruses (β-HPV), is implicated in the development of non-melanoma skin cancer. This was first evidenced for HPV5 and HPV8 in patients with the skin disease epidermodysplasia verruciformis (EV). The relocalization of the junctional bridging proteins β-catenin and zona occludens-1 (ZO-1) from the adherens and tight junctions are common processes of the epithelial-mesenchymal transition (EMT) associated with tumour invasion. Read More

    Severe infectious diseases of childhood as monogenic inborn errors of immunity.
    Proc Natl Acad Sci U S A 2015 Dec 30;112(51):E7128-37. Epub 2015 Nov 30.
    St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065; Howard Hughes Medical Institute, New York, NY 10065; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, 75015 Paris, France; Imagine Institute, Paris Descartes University, 75015 Paris, France; Pediatric Hematology and Immunology Unit, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, 75015 Paris, France
    This paper reviews the developments that have occurred in the field of human genetics of infectious diseases from the second half of the 20th century onward. In particular, it stresses and explains the importance of the recently described monogenic inborn errors of immunity underlying resistance or susceptibility to specific infections. The monogenic component of the genetic theory provides a plausible explanation for the occurrence of severe infectious diseases during primary infection. Read More

    Cornoid Lamella-Like Structures in HIV-Associated Epidermodysplasia Verruciformis: A Unique Histopathologic Finding.
    Am J Dermatopathol 2015 Dec;37(12):929-32
    *Department of Dermatology, University of Missouri, Columbia, MO; †Department of Dermatology, Laboratory for Molecular Studies in Mucocutaneous Diseases, University of Texas Health Science Center at Houston, Houston, TX; and Departments of ‡Dermatology, and §Pathology, University of California, San Francisco, San Francisco, CA.
    Epidermodysplasia verruciformis (EV) is an uncommon inherited skin condition with increased vulnerability to widespread infection by certain human papillomavirus types, resulting in extensive verruca plana-like papules coalescing to large confluent plaques. Since the AIDS epidemic starting in the 1980s, an acquired type of EV has been described in patients infected with human immunodeficiency virus. The histopathologic features of EV consist of papillated epidermal hyperplasia with hypergranulosis and a distinct bluish-gray color in the large human papillomavirus-infected keratinocytes in the stratum granulosum. Read More

    Human papillomavirus detected in viral warts of renal transplant recipients.
    Transpl Infect Dis 2016 Feb 30;18(1):37-43. Epub 2016 Jan 30.
    Department of Dermatology, Federal University of São Paulo, UNIFESP, São Paulo, Brazil.
    Objectives: Few studies have been conducted in South America regarding the detection and genotyping of human papillomavirus (HPV) in viral warts of renal transplant recipients (RTRs). The characterization of the population most susceptible to the development of warts and the knowledge of the main HPV types in this environment prompted this study, which focuses on the detection and typing of HPV in RTRs in Brazil.

    Methods: Fifty-eight patients with viral warts from the Hospital São Paulo/Federal University of São Paulo were included in this study. Read More

    Acquired epidermodysplasia verruciformis in an HIV-positive patient.
    Int J STD AIDS 2016 Oct 28;27(11):1023-5. Epub 2015 Oct 28.
    Department of Histopathology, Walsall Manor Hospital, UK.
    Epidermodysplasia verruciformis (EV) is a rare dermatological manifestation of the human papillomavirus (HPV) infection, which causes distinctive skin lesions in sun-exposed areas. Both inherited and acquired forms exist. Immunocompromised individuals, such as HIV patients, are at risk of acquired EV. Read More

    Epidermodysplasia verruciformis: successful treatment with squaric acid dibutylester.
    Cutis 2015 Aug;96(2):114-8
    419 W Redwood St, Ste 240, Baltimore, MD 21201, USA.
    Epidermodysplasia verruciformis (EV) is a rare disorder characterized by disseminated cutaneous warts in predisposed patients who are highly susceptible to genus ß-papillomavirus infections. We present the case of a 40-year-old lymphocytopenic woman with a balanced chromosomal translocation and a 25-year history of refractory EV that was successfully treated with squaric acid dibutylester (SADBE) contact immunotherapy. Read More

    Risk of Cutaneous Squamous Cell Carcinoma Development in Renal Transplant Recipients Is Independent of TMC/EVER Alterations.
    Dermatology 2015 28;231(3):245-52. Epub 2015 Jul 28.
    Research Group of Dermatology, Department of Biomedicine, University Hospital Basel and University of Basel, Basel, Switzerland.
    Background: Renal transplant recipients (RTRs) have an increased risk of developing nonmelanoma skin cancer, mainly cutaneous squamous cell carcinoma (cSCC). Two genes (TMC6/EVER1 and TMC8/EVER2), mutated in epidermodysplasia verruciformis (EV) patients with an increased risk of cSCC development, contain numerous single-nucleotide polymorphisms (SNPs).

    Aim: To evaluate the effect of SNPs in both TMC/EVER genes on the different susceptibilities of RTRs to cSCC. Read More

    Deleterious Effect of Radiation Therapy on Epidermodysplasia Verruciformis Patients.
    J Cutan Med Surg 2015 Jul-Aug;19(4):416-21. Epub 2015 Mar 18.
    The University of Texas Health Science Center, Houston, TX, USA.
    Background: Epidermodysplasia verruciformis (EV) is a rare genodermatosis caused by specific human papillomavirus (HPV) types associated with the development of multiple squamous cell carcinomas (SCC). The treatment for this skin tumour may be difficult. Among the therapy options, radiotherapy (RT) should be avoided due to its deleterious effects on HPV-induced carcinogenesis. Read More

    A coding variant in TMC8 (EVER2) is associated with high risk HPV infection and head and neck cancer risk.
    PLoS One 2015 8;10(4):e0123716. Epub 2015 Apr 8.
    Masonic Cancer Center, University of Minnesota, Minneapolis, MN, United States of America; Division of Epidemiology and Community Health, University of Minnesota, Minneapolis, MN, United States of America.
    HPV infection is a causal agent in many epithelial cancers, yet our understanding of genetic susceptibility to HPV infection and resultant cancer risk is limited. Epidermodysplasia Verruciformis is a rare condition of extreme susceptibility to cutaneous HPV infection primarily attributable to mutations in TMC6 and TMC8. Genetic variation in the TMC6/TMC8 region has been linked to beta-type HPV infection and squamous cell carcinoma of the skin, cervical cancer, HPV persistence and progression to cervical cancer. Read More

    Human papillomaviruses and non-melanoma skin cancer.
    Semin Oncol 2015 Apr 31;42(2):284-90. Epub 2014 Dec 31.
    Division of Infectious Diseases, Brigham and Women's Hospital, Department of Medicine, Harvard Medical School, Boston, MA. Electronic address:
    Human papillomaviruses (HPVs) infect the squamous epithelium and can induce benign and malignant lesions. To date, more than 200 different HPV types have been identified and classified into five genera, α, β, γ, μ, and ν. While high-risk α mucosal HPVs have a well-established role in cervical carcinoma and a significant percentage of other anogenital tract and oral carcinomas, the biology of the cutaneous β HPVs and their contribution to non-melanoma skin cancer (NMSC) has been less studied. Read More

    HPV vaccination for prevention of skin cancer.
    Hum Vaccin Immunother 2015 ;11(2):353-7
    a Division of Viral Transformation Mechanisms ; German Cancer Research Center (DKFZ) ; Heidelberg , Germany.
    Cutaneous papillomaviruses are associated with specific skin diseases, such as extensive wart formation and the development of non-melanoma skin cancer (NMSC), especially in immunosuppressed patients. Hence, clinical approaches are required that prevent such lesions. Licensed human papillomavirus (HPV) vaccines confer type-restricted protection against HPV types 6, 11, 16 and 18, responsible of 90% of genital warts and 70% of cervical cancers, respectively. Read More

    Bilateral recurrent ocular surface squamous cell cancer associated with epidermodysplasia verruciformis.
    BMJ Case Rep 2015 Jan 30;2015. Epub 2015 Jan 30.
    Department of Ophthalmology, R P Centre, All India Institute of Medical Sciences, New Delhi, India.
    A 17-year-old boy, presented with a 2-year history of bilateral, recurrent ocular surface mass. Dermatological evaluation revealed the presence of multiple hypopigmented macules over his body. Skin biopsy showed features typical of epidermodysplasia verruciformis. Read More

    Epidermodysplasia Verruciformis-like Skin Eruption in an HIV-positive Patient.
    Trop Med Health 2014 Dec 23;42(4):185-6. Epub 2014 Aug 23.
    Department of Dermatology, Hospital de Clínicas de Porto Alegre , Rua Ramiro Barcelos, 2350 - Santa Cecília, Porto Alegre - RS, 90035-000, Brazil ; Federal University of Rio Grande do Sul, Avenida Paulo Gama , 110, Farropilhas, Porto Alegre - RS, 90040-060, Brazil.
    Epidermodysplasia Verruciformis-like skin eruption is a rare syndrome that usually occurs in patients with immunodeficiency, predisposing them to infections with human papilloma β virus (HPV). We report here an HIV patient presenting with this syndrome. Read More

    Possible association between actinic keratosis and the rs7208422 (c.917A→T, p.N306l) polymorphism of the EVER2 gene in patients without epidermodysplasia verruciformis.
    Clin Exp Dermatol 2015 Apr 12;40(3):318-23. Epub 2014 Dec 12.
    Department of Dermatology and Immunodermatology, Medical University of Warsaw, Warsaw, Poland.
    Background: Mutations of the EVER1 and EVER2 genes cause epidermodysplasia verruciformis (EV), a genodermatosis associated with squamous cell carcinoma (SCC). Recently, it has been found that the rs7208422 (c.917A→T, p. Read More

    Cutaneous HPV and skin cancer.
    Presse Med 2014 Dec 22;43(12 Pt 2):e435-43. Epub 2014 Oct 22.
    Infections and Cancer Biology (ICB) Group, International Agency for Research on Cancer, World Health Organization, 69372 Lyon cedex 08, France.
    Papillomaviruses (HPVs) are small non-enveloped icosahedral viruses that infect the keratinocytes of skin and mucosa. The cutaneous HPV types are represented mainly by the beta and gamma genera, which are widely present in the skin of normal individuals. More than 40 beta-HPV types and 50 gamma-HPV types have been isolated, and these numbers are continuously growing. Read More

    Expression of the epidermodysplasia verruciformis-associated genes EVER1 and EVER2 is activated by exogenous DNA and inhibited by LMP1 oncoprotein from Epstein-Barr virus.
    J Virol 2015 Jan 5;89(2):1461-7. Epub 2014 Nov 5.
    Section of Infections, Infections and Cancer Biology Group, International Agency for Research on Cancer, Lyon, France
    EVER1 and EVER2 are mutated in epidermodysplasia verruciformis patients, who are susceptible to human betapapillomavirus (HPV) infection. It is unknown whether their products control the infection of other viruses. Here, we show that the expression of both genes in B cells is activated immediately after Epstein-Barr virus (EBV) infection, whereas at later stages, it is strongly repressed via activation of the NF-κB signaling pathway by latent membrane protein 1 (LMP1). Read More

    TMC8 (EVER2) attenuates intracellular signaling by Zn2+ and Ca2+ and suppresses activation of Cl- currents.
    Cell Signal 2014 Dec 15;26(12):2826-33. Epub 2014 Sep 15.
    Institut für Physiologie, Universität Regensburg, Universitätsstraße 31, D-93053 Regensburg, Germany. Electronic address:
    Eight paralogue members form the family of transmembrane channel-like (TMC) proteins that share considerable sequence homology to anoctamin 1 (Ano1, TMEM16A). Ano1 is a Ca(2+) activated Cl(-) channel that is related to head and neck cancer, often caused by human papilloma virus (HPV) infection. Mutations in TMC 6 and 8 (EVER1, EVER2) cause epidermodysplasia verruciformis. Read More

    Human papillomaviruses and skin cancer.
    Adv Exp Med Biol 2014 ;810:192-207
    Human papillomaviruses (HPVs) infect squamous epithelia and can induce hyperproliferative lesions. More than 120 different HPV types have been characterized and classified into five different genera. While mucosal high-risk HPVs have a well-established causal role in anogenital carcinogenesis, the biology of cutaneous HPVs is less well understood. Read More

    Betapapillomaviruses in the anal canal of HIV positive and HIV negative men who have sex with men.
    J Clin Virol 2014 Oct 23;61(2):237-41. Epub 2014 Jul 23.
    Institute of Microbiology and Immunology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. Electronic address:
    Background: Betapapillomaviruses (β-PV) are etiologically associated with epidermodysplasia verruciformis and a proportion of skin precancerous lesions and cancer, mainly in immunocompromised individuals.

    Objectives: The prevalence and persistence of anal β-PV infection and β-PV type distribution were determined in a cohort of men who have sex with men (MSM). A correlation with HIV-1 infection status and selected demographic and behavioral risk factors were additionally established. Read More

    Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.
    J Clin Immunol 2014 Oct 30;34(7):871-90. Epub 2014 Jul 30.
    Allergy & Immunology, Section of Immunology, Allergy and Rheumatology, Texas Children's Hospital, Houston, TX, USA.
    Purpose: Coronin-1A deficiency is a recently recognized autosomal recessive primary immunodeficiency caused by mutations in CORO1A (OMIM 605000) that results in T-cell lymphopenia and is classified as T(-)B(+)NK(+)severe combined immunodeficiency (SCID). Only two other CORO1A-kindred are known to date, thus the defining characteristics are not well delineated. We identified a unique CORO1A-kindred. Read More

    Two sisters reveal autosomal recessive inheritance of epidermodysplasia verruciformis: a case report.
    BMC Dermatol 2014 Jul 21;14:12. Epub 2014 Jul 21.
    Department of Dermatology, Tokyo Women's Medical University Yachiyo Medical Center, 477-96, Ohwada-Shinden, Yachiyo 276-8524, Chiba, Japan.
    Background: Epidermodysplasia verruciformis is a rare genodermatosis characterized by a unique susceptibility to cutaneous human papillomaviruses infection. Most patients show autosomal recessive patterns of inheritance.

    Case Presentation: We report a case of two sisters with clinically epidermodysplasia verruciformis specific lesions on the face, neck, trunk, and extremities. Read More

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