Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The differential diagnosis for pustular skin disorders is extensive. The distribution of the lesions and the age of the patient are characteristics that may provide strong clues to the etiology of cutaneous pustular eruptions. In adults, generalized pustular dermatoses include pustular psoriasis, Reiter's disease and subcorneal pustular dermatosis. Medications can cause generalized pustular eruptions, such as in the case of acute generalized exanthematous pustulosis; or more localized reactions, such as acneiform drug eruptions, which usually involve the face, chest and back. Localized pustular eruptions are seen on the hands and feet in adults with pustulosis palmaris et plantaris and acrodermatitis continua (both of which may be variants of psoriasis); on the face in patients with acne vulgaris, rosacea, and perioral dermatitis; and on the trunk and/or extremities in patients with folliculitis. A separate condition known as eosinophilic folliculitis occurs in individuals with advanced human immunodeficiency disease. Severely pruritic, sterile, eosinophilic pustules are found on the chest, proximal extremities, head and neck. Elevated serum immunoglobulin E and eosinophilia are often concurrently found. In neonates, it is especially important to make the correct diagnosis with respect to pustular skin disorders, since pustules can be a manifestation of sepsis or other serious infectious diseases. Generalized pustular eruptions in neonates include erythema toxicum neonatorum and transient neonatal pustular melanosis, both of which are non-infectious. Pustules are seen in infants with congenital cutaneous candidiasis, which may or may not involve disseminated disease. Ofuji's syndrome is an uncommon generalized pustular dermatosis of infancy with associated eosinophilia. As in adults, neonates and infants may develop acne or scabies infestations. In this article, we review the most common pustular dermatoses and offer a systematic approach to making a diagnosis. We also report the most up-to-date information on the treatment of these various cutaneous pustular conditions.
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PMID:Pustular skin disorders: diagnosis and treatment. 1211 48

Psoriasis (OMIM 177900) is a chronic inflammatory skin disorder of unknown pathogenesis affecting approximately 2% of the Western population. It occurs more frequently in individuals with human immunodeficiency virus, and 20-30% of individuals with psoriasis have psoriatic arthritis. Psoriasis is associated with HLA class I alleles, and previous linkage analysis by our group identified a second psoriasis locus at 17q24-q25 (PSORS2; ref. 7). Linkage to this locus was confirmed with independent family sets. Additional loci have also been proposed to be associated with psoriasis. Here we describe two peaks of strong association with psoriasis on chromosome 17q25 separated by 6 Mb. Associated single-nucleotide polymorphisms (SNPs) in the proximal peak lie in or near SLC9A3R1 (also called EBP50 and NHERF1) and NAT9, a new member of the N-acetyltransferase family. SLC9A3R1 is a PDZ domain-containing phosphoprotein that associates with members of the ezrin-radixin-moesin family and is implicated in diverse aspects of epithelial membrane biology and immune synapse formation in T cells. The distal peak of association is in RAPTOR (p150 target of rapamycin (TOR)-scaffold protein containing WD-repeats). Expression of SLC9A3R1 is highest in the uppermost stratum Malpighi of psoriatic and normal skin and in inactive versus active T cells. A disease-associated SNP lying between SLC9A3R1 and NAT9 leads to loss of RUNX1 binding. This is the second example of loss of a RUNX1 binding site associated with susceptibility to an autoimmune disease. It also suggests defective regulation of SLC9A3R1 or NAT9 by RUNX1 as a susceptibility factor for psoriasis.
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PMID:A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis. 1572 57

Human immunodeficiency virus (HIV) infects and destroys crucial components of the immune system, leaving patients susceptible to a number of viral, bacterial and fungal diseases. Viral warts are caused by human papillomavirus infection and are a common skin disease that afflicts HIV-infected patients. Treatment modalities currently rely on destruction of the infected tissue or interruption of cell division; however, frequent recurrence is a particular challenge in HIV-infected patients. We report the case of a 41-year-old HIV-positive man with multiple common warts located on his hands and feet. Following 5 months of treatment with imiquimod, an immune response modifier, as a 5% cream, complete clearance of all warts was achieved. Mild erythma, itching and burning at the application site was observed in the early stages of treatment. The patient showed no relapse of warts at the 30-month follow-up visit.
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PMID:Topical treatment of common warts in an HIV-positive patient with imiquimod 5% cream. 1461 16

This article briefly reviews the concepts of immunodeficiency and immunomodulation as they relate to selected skin diseases in the dog and cat. Immunodeficiency states are uncommon and may be associated with a subnormal or down-regulated immune system, including humoral deficiencies, such as IgA, and abnormal lymphocyte or neutrophil function. Establishing a causal relationship between a skin disease and presumed immunodeficient state has been difficult due to the rarity of such conditions, and the limited nature of the techniques used to characterise the immune system response. Severe combined immunodeficiency in dogs is a well characterised primary immunodeficiency state involving lymphocytes; retrovirus infection in cats may lead to an acquired immunodeficient state with some association with certain dermatological conditions although it remains unclear that infection is causally linked with disease. Immunomodulation usually implies stimulating the immune system along a beneficial pathway. Such a therapeutic approach may involve a wide variety of agents, for example intravenous immunoglobulin. There are few randomised controlled trials with veterinary patients that unequivocally demonstrate beneficial responses to immunomodulatory agents. Interferons are cytokines of major interest in human and veterinary medicine for their antiviral, anti-tumour and immunomodulatory effects. The advent of veterinary-licensed products containing recombinant interferon may enable demonstration of the efficacy of interferons for conditions such as canine papillomatosis and feline eosinophilic granuloma complex. Canine pyoderma has been treated with a number of presumed immunomodulatory agents with limited success. With more detailed knowledge of the pathogenesis of pyoderma it may be possible to develop efficacious immunomodulators.
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PMID:Immunomodulation and immunodeficiency. 1503 May 60

Cutaneous manifestations are common and often the presenting feature of human immunodeficiency virus (HIV) infection, but a comprehensive study of HIV-associated skin lesions is not available in Taiwan. We reviewed all skin lesions in all HIV patients diagnosed in our department between 1990 and 1998 to document the spectrum of skin manifestations, the frequency of each disorder, and their relationship with CD4 counts. A total of 64 HIV patients were studied, including 38 with acquired immunodeficiency syndrome (AIDS) (CD4 < 200 x 10(6) cells/L) and 26 who had not developed AIDS (non-AIDS). There were 142 episodes of skin conditions representing 25 different skin diseases, including oral candidiasis (15% in non-AIDS vs 71% in AIDS patients), drug eruptions, herpes simplex, seborrheic dermatitis, dermatophytosis, herpes zoster, secondary syphilis, condyloma acuminatum, Kaposi's sarcoma (16% among AIDS patients), hairy leukoplakia, and molluscum contagiosum (13% among AIDS patients), in decreasing order. Several unusual cases are briefly described, including verrucous herpes infection, condyloma-like molluscum contagiosum, and AIDS-associated pigmented erythroderma. In our study, 70% of all HIV patients had skin diseases, with an average of 2.2 conditions per patient (3.2 in AIDS patients vs 0.7 in non-AIDS patients; p < 0.001). A broad spectrum of HIV-associated skin diseases was observed in our series. The frequency of HIV-associated skin disease was 92% in AIDS patients and 39% in non-AIDS patients; 78% of skin lesions in AIDS patients were diagnosed when CD4 counts were below 100 x 10(6) cells/L.
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PMID:Cutaneous manifestations of human immunodeficiency virus infection in Taiwan. 1523 32

Mycobacterium ulcerans infection causes a skin disease known as Buruli ulcer (BU), a disorder manifested usually as a solitary and painless nodule or papule that progresses to massive necrotizing destruction and cutaneous ulceration. When healing occurs, it often results in disabling deformities. Buruli ulcer is considered the third most common mycobacterial disease in immunocompetent people, after tuberculosis and leprosy. Although the emergence of Buruli ulcer in Western African countries over the past decade has been dramatic, it has been scarcely reported in industrialized countries. We report a patient from Equatorial Guinea who was human immunodeficiency virus-positive, presenting aggressive and multifocal BU associated with an underlying destructive osteomyelitis, in which only an aggressive surgical approach yielded to a resolution of the disease. In a global world, with increasing migratory population fluxes, an increased awareness of dermatologists regarding the clinical, histopathological and microbiological features of BU is important in order to avoid significant delays in diagnosis and treatment.
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PMID:Aggressive multifocal Buruli ulcer with associated osteomyelitis in an HIV-positive patient. 1619 79

Mankind has a long history of body decoration and body piercing has now reached epidemic popularity within a large proportion of the population. Complications such as bleeding and local infection are common, but severe infections like septicaemia, endocarditis and transmission of hepatitis may occur. We describe a 39 year old man with genital piercing who spent 43 days hospitalized because of Foumier's gangrene with necrotizing fascitis starting in the genital tract and perineum. He developed septicaemia and disseminated intravascular coagulation. A young woman with breast implants got severe mastitis after piercing her mamills. People with immunodeficiency, heart valve abnormality and present or future artificial prosthesis or skin disease should be discouraged from piercing. Since many disorders are not diagnosed when the piercing takes place, general restriction is recommended. Medical risks and consequences of piercing, especially of mucosal surfaces and cartilage, should not be underestimated.
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PMID:[The risk of severe complications of body piercing should not be underestimated]. 1620 Sep 2

Atopic eczema (AE) is a chronic inflammatory skin disease which affects 10 to 20% of children and 1 to 3% of adults. AE is usually diagnosed based on standard criteria such as those of Hanifin and Rajka, whereby the age-related variation must be considered. There are numerous other diseases which go along with AE or show a very similar clinical picture and represent important differential diagnostic considerations including parasitic diseases, immunodeficiency, nutritional diseases, certain neoplastic disorders and various corneal abnormalities. Additionally, it is important to consider diseases which can occur in association with AE, such as keratosis pilaris, alopecia areata or sweat disturbances.
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PMID:[Associated diseases and differential diagnostic considerations in childhood atopic eczema]. 1726 88

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

Despite the decrease in opportunistic infections associated with HIV in the highly active antiretroviral treatment (HAART) era, a significant number of patients still present with skin pathology, some of which can be attributed directly or indirectly to antiretroviral therapy. The non-nucleoside reverse transcriptase inhibitors exhibit a class effect with regard to skin adverse manifestations, and the spectrum of disease can vary from a mild morbilliform rash to Stevens-Johnson syndrome. Certain protease inhibitors are associated with rash, and indinavir causes retinoid-like manifestations such as paronychia, alopecia, ingrown toe-nails, and curling of straight hair. Abacavir, a nucleoside reverse transcriptase inhibitor, is notorious for causing a hypersensitivity reaction in select patients. The fusion inhibitor enfuvirtide causes injection-site reactions in the overwhelming majority of patients, although a new method of delivery has decreased the rate and severity of these reactions. A syndrome of lipoatrophy with or without lipohypertrophy, often termed lipodystrophy, has been described in patients receiving HAART. Potential management of lipoatrophy includes switching antiretrovirals and surgical treatment with facial fillers. Lastly, skin manifestations of the immune reconstitution inflammatory syndrome, including herpes zoster and warts, must be recognized and treated accordingly. In the evaluation of the individual HIV-infected patient receiving antiretroviral therapy who presents with a skin disorder, clinicians should consider the CD4 cell count as a marker of the degree of immunodeficiency, the specific antiretrovirals used, and the timing of the initiation of antiretroviral therapy in order to formulate a rational differential diagnosis. Management should be individualized based on the specific drug that is implicated and the severity of the reaction.
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PMID:Dermatologic adverse effects of antiretroviral therapy: recognition and management. 1764 77


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