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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Rupture of follicular (epidermoid) cysts is believed to be the consequence of bacterial infection. We report a 24-year-old man with idiopathic CD4 lymphopenia and chronic Mycobacterium avium intracellulare infection who developed multiple, recurring painful abscesses over the distal extremities that increased in number and severity when systemic steroid and interferon-gamma treatment was instituted for interstitial lung disease. Cultures were consistently negative for microorganisms, but pathological examination revealed ruptured epidermoid cyst walls with human papillomavirus (HPV) viropathic changes (keratinocytes with perinuclear halos and abundant basophilic keratohyaline granules). Cutaneous examination showed numerous, widespread flat-topped papules and achromic macules over the extremities, head and neck. Nested polymerase chain reaction analysis for HPV DNA revealed that the abscess-related cyst walls harboured epidermodysplasia verruciformis (EV)-associated HPV types 20, 24, alb-7 (AY013872) and 80. His cutaneous lesions harboured HPV types 3, 8 and 80. Similar to past reports, our patient developed an EV-like eruption in the setting of immunodeficiency. In this instance, EV-associated HPV infection of the follicular infundibular epithelium or pre-existing cysts in the setting of immunodeficiency may have led to cystic growth, rupture and subsequent painful inflammation.
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PMID:Recurrent 'sterile' verrucous cyst abscesses and epidermodysplasia verruciformis-like eruption associated with idiopathic CD4 lymphopenia. 1451 Oct

Haemopoietic stem-cell transplantation is a life-saving treatment for severe combined immune deficiency. However, there has been little long-term follow-up of this treatment. There is evidence for the persistance of partial immunodeficiency associated with significant infections, including severe human papillomavirus (HPV) disease. We did a retrospective analysis of severe HPV disease in a group of 41 patients with severe combined immune deficiency from one centre who were alive 10 years or longer after haemopoietic stem-cell transplantation. Nine of the 41 patients had extensive chronic HPV disease limited to the skin, with a median onset at 8 years after transplantation. Four had lesions typical of epidermodysplasia verruciformis, a rare genodermatosis. Transplant characteristics, immune status, and chimerism of these nine patients did not differ significantly from those of the other patients. The nine patients with HPV disease had severe combined immune deficiency associated with either common gammac receptor cytokine subunit or Janus kinase-3 (JAK-3) deficiency. By contrast, patients with other forms of severe combined immune deficiency did not have any signs of HPV disease. That genetic causes are the only predisposing factor to be identified for severe combined immune deficiency, suggests that natural-killer cells or gammac/JAK-3-dependent signalling in keratinocytes could have a role in anti-HPV immunity.
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PMID:Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency. 1520 58

We report a case of a cervical intraepithelial neoplasia associated with epidermodysplasia verruciformis human papillomavirus (HPV) type 5 and HPV type 16 in a human immunodeficiency virus-infected patient. Furthermore, epidermodysplasia verruciformis-like cutaneous eruptions after initiation of highly active antiretroviral therapy has never been described as a manifestation of an immune restoration syndrome.
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PMID:Cervical intraepithelial neoplasia associated with epidermodysplasia verruciformis HPV in an HIV-infected patient: a manifestation of immune restoration syndrome. 1733

Epidermodysplasia verruciformis (EV) is an uncommon dermatosis associated with human papillomavirus (HPV) infection in association with defects in cell-mediated immunity. Malignant transformation to squamous cell carcinoma has been associated with lesions caused by HPV-5, HPV-8, and HPV-14. Clinically, the disease may be confused with verruca plana, seborrheic keratosis, and pityriasis versicolor. We present an unusual case of EV occurring in a human immunodeficiency virus (HIV)-positive man and discuss the clinical and histologic findings. Clinically, the patient had 1- to 3-mm hypopigmented smooth macules covering the entire body. Histopathologic examination of the skin biopsy results demonstrated enlarged keratinocytes with prominent blue-gray cytoplasm and clumping of keratohyalin granules within the granular layer of the epidermis. Although EV typically is viewed as a disease of childhood, sometimes presenting in patients with a family history of the disease, it rarely may be seen in immunocompromised adults.
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PMID:Epidermodysplasia verruciformis occurring in a patient with human immunodeficiency virus: a case report. 1750 Mar 79

We report the association of common variable immunodeficiency syndrome with epidermodysplasia verruciformis (EV) manifesting as flat warts and squamous cell carcinomas in a 21-year-old Hispanic woman. Human papillomavirus (HPV) typing by polymerase chain reaction using an EV-HPV primer system, cloning, and sequencing detected HPV-8 and HPV-23 DNAs in the biopsy sample. Our case is the second reported case of common variable immunodeficiency syndrome associated with EV.
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PMID:Common variable immunodeficiency syndrome associated with epidermodysplasia verruciformis. 1790 33

Disseminated squamous cell carcinoma (SCC) of the skin is exceedingly rare in children. SCC occurs after immunodeficiency from immunosuppression in organ transplant recipients or patients with HIV infection or leukaemia, but has not been reported in primary immunodeficiencies other than epidermodysplasia verruciformis. Interferon gamma receptor 2 (IFN gamma R2) deficiency is an exceedingly rare primary immunodeficiency, conferring almost selective predisposition to mycobacterial diseases. A disseminated, cutaneous SCC is described that occurred in a patient homozygous for a novel frameshift deletion at positions 949 and 950 (949delTG) in the IFNGR2 gene. The patient first presented at 1 year of age with disseminated Mycobacterium avium infection, with later infections of atypical mycobacteria (Mycobacterium fortuitum and Mycobacterium porcium). At 17 years of age, the patient developed multifocal SCC lesions on the face and both hands. Histopathological examination revealed well differentiated SCC. Despite local tumour excision, multiple lesions occurred and a large SCC on the right arm required amputation. The patient died at 20 years of age of disseminated SCC. Inherited disorders of IFN gamma mediated immunity may predispose patients to SCC.
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PMID:Multiple cutaneous squamous cell carcinomas in a patient with interferon gamma receptor 2 (IFN gamma R2) deficiency. 2058 11

Primary immunodeficiencies (PIDs) are commonly characterized by an increased susceptibility to specific infections and, in certain instances, a higher than usual incidence of malignancies. Although improved diagnosis and early treatment of PIDs have reduced early morbidity and mortality from infection, the development of cancer remains a significant cause of premature death. The emergence of cancer in patients with PIDs often results from impairments in the immune response that lead to weakened surveillance against oncogenic viruses, premalignant or malignant cells, or both. Here we review the clinical and biologic features of several PIDs associated with enhanced susceptibility to viral infections and cancer, including X-linked lymphoproliferative disease; IL-2-inducible T-cell kinase deficiency; epidermodysplasia verruciformis; warts, hypogammaglobulinemia, infections, and myelokathexis syndrome; autosomal recessive hyper-IgE syndrome; X-linked agammaglobulinemia; and common variable immunodeficiency. It is of importance that we gain in-depth insights into the fundamental molecular nature of these unique PIDs to better understand the pathogenesis of virus-associated malignancies and to develop innovative therapeutic strategies.
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PMID:Primary immunodeficiency diseases associated with increased susceptibility to viral infections and malignancies. 2151 36

Generalized verrucosis has been described in the past as synonymous with epidermodysplasia verruciformis. It has been shown, however, that epidermodysplasia verruciformis and other genetic or immunodeficiency diseases are just a subset of diffuse infections with human papillomavirus termed "generalized verrucosis." This article defines generalized verrucosis and distinct diseases associated with generalized warts. The indications for histopathologic testing, human papillomavirus typing, and other laboratory analyses and potential treatment options are discussed.
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PMID:Generalized verrucosis: a review of the associated diseases, evaluation, and treatments. 2306 95

A 4-year-old girl with an established diagnosis of atopic dermatitis, previously severe and treated with cyclosporine, developed widespread papules that demonstrated changes consistent with epidermodysplasia verruciformis on biopsy. Human papilloma virus (HPV) typing was performed and was consistent with epidermodysplasia verruciformis-type HPV (type 5). These lesions rapidly resolved with a 2-week course of imiquimod. Rapid resolution and no family history of epidermodysplasia verruciformis make this most consistent with acquired epidermodysplasia verruciformis. This case is the first reported case of acquired epidermodysplasia verruciformis in a child without the human immunodeficiency virus and may be linked to cyclosporine use, which also has never been previously reported.
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PMID:Acquired epidermodysplasia verruciformis in a child with atopic dermatitis. 2293 30

Increased cases of acquired epidermodysplasia verruciformis (EDV) have been reported in patients with human immunodeficiency virus (HIV). With regard to management, there are no randomized controlled trials in either immunocompetent or immunocompromised patients, and only a limited number of anecdotal treatment options. Systemic retinoids, either independently or in combination with other treatment modalities, have been used with limited success, demonstrating transient clinical response and recurrence of lesions after cessation of therapy. We report a case of an HIV-positive patient with acquired EDV who achieved sustained clinical resolution even after discontinuation of oral acitretin by applying topical imiquimod to prevent recurrence of his lesions.
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PMID:Sustained clinical resolution of acquired epidermodysplasia verruciformis in an immunocompromised patient after discontinuation of oral acitretin with topical imiquimod. 2354 21


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