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International Archives of Allergy and... 2019Recurrent severe bacterial and fungal infections are characteristic features of the rare genetic immunodeficiency disorder chronic granulomatous disease (CGD). The... (Review)
Review
Recurrent severe bacterial and fungal infections are characteristic features of the rare genetic immunodeficiency disorder chronic granulomatous disease (CGD). The disease usually manifests within the first years of life with an incidence of 1 in approximately 200,000 live births. The incidence is higher in Iran and Morocco where it reaches 1.5 per 100,000 live births. Mutations have been described in the 5 subunits of NADPH oxidase, mostly in gp91phox and p47phox, with fewer mutations reported in p67phox, p22phox, and p40phox. These mutations cause loss of superoxide production in phagocytic cells. CYBB, the gene encoding the large gp91phox subunit of the transmembrane component cytochrome b558 of the NADPH oxidase complex, is localized on the X-chromosome. Genetic defects in CYBB are responsible for the disease in the majority of male CGD patients. CGD is associated with the development of granulomatous reactions in the skin, lungs, bones, and lymph nodes, and chronic infections may be seen in the liver, gastrointestinal tract, brain, and eyes. There is usually a history of repeated infections, including inflammation of the lymph glands, skin infections, and pneumonia. There may also be a persistent runny nose, inflammation of the skin, and inflammation of the mucous membranes of the mouth. Gastrointestinal problems can also occur, including diarrhea, abdominal pain, and perianal abscesses. Infection of the bones, brain abscesses, obstruction of the genitourinary tract and/or gastrointestinal tract due to the formation of granulomatous tissue, and delayed growth are also symptomatic of CGD. The prevention of infectious complications in patients with CGD involves targeted prophylaxis against opportunistic microorganisms such as Staphylococcus aureus, Klebsiella spp., Salmonella spp. and Aspergillus spp. In this review, we provide an update on organ involvement and the association with specific isolated microorganisms in CGD patients.
Topics: Autoimmunity; Bacterial Infections; Child; Child, Preschool; Female; Granulomatous Disease, Chronic; Humans; Infant; Liver Abscess; Lung Diseases; Male; Mycoses; NADPH Oxidases; Skin Diseases
PubMed: 30904913
DOI: 10.1159/000496181 -
Journal of Clinical Immunology Apr 2019
Topics: Abscess; Animals; Anti-Inflammatory Agents; Autoimmune Diseases; CARD Signaling Adaptor Proteins; Calcium-Binding Proteins; Enterocolitis; Eosinophils; Humans; Infant; Infant, Newborn; Interleukin 1 Receptor Antagonist Protein; Male; Mutation; Perianal Glands; Recurrence; Exome Sequencing
PubMed: 30864118
DOI: 10.1007/s10875-019-00611-w -
Skin Appendage Disorders Nov 2018Extramammary Paget disease is a rare, slow-growing intraepithelial neoplasm of the skin or its underlying appendages. It more commonly affects the apocrine glands of the...
Extramammary Paget disease is a rare, slow-growing intraepithelial neoplasm of the skin or its underlying appendages. It more commonly affects the apocrine glands of the axilla, vulva, perianal region, scrotum, and/or penis. It often presents as a well-demarcated, thickened, erythematous, or gray-white scaly plaque with indolent growth that may become ulcerated, crusted, papillomatous, or eczematous over time. Pruritus, pain, and burning sensations are common symptoms; however, they are not appreciated by all patients. Many patients are erroneously treated for eczema for months to years before a proper diagnosis is reached. Patients presenting with chronic genital or perineal dermatitis or skin lesions that have been unresponsive to topical therapy should be biopsied for definitive diagnosis.
PubMed: 30643783
DOI: 10.1159/000488723 -
Inflammatory Bowel Diseases Jun 2019Perianal complications in patients with Crohn's disease are common and have a negative impact on the patients' quality of life. Data about the long-term disease course...
BACKGROUND
Perianal complications in patients with Crohn's disease are common and have a negative impact on the patients' quality of life. Data about the long-term disease course of perianal Crohn's disease in the era of biological treatment are limited. In this population-based cohort study, we sought to investigate the occurrence, clinical risk factors, and disease course of perianal disease.
METHODS
A total of 213 Crohn's disease patients were included in a prospective population-based inception cohort. Data were retrieved from medical records and national health administrative databases. Perianal disease was defined as a perianal fistula and/or abscess. Associations between outcomes and covariates were analyzed by Cox regression analysis.
RESULTS
A total of 48 (22.5%) patients developed perianal disease after 10 years. Colonic disease location (hazard ratio [HR], 1.99; 95% confidence interval [CI], 1.01-3.92) and penetrating behavior (HR, 5.65; 95% CI, 2.65-12.03) were associated with the development of perianal disease. The cumulative risk of undergoing abdominal surgery was 51% after 10 years. Patients with perianal disease had a higher rate of resection (HR, 3.92; 95% CI, 1.86-8.67) and hospitalization (HR, 1.01; 95% CI, 1.00-1.01). There was no significant difference in the rate of sick leave, unemployment, or disability pension between patients with and without perianal disease.
CONCLUSIONS
Patients with perianal disease carry a higher risk of surgery and hospitalization, and this suggests a more severe disease course and poorer prognosis among these patients, even in the era of biological treatment. These findings underline the importance of optimizing treatment strategies for patients with perianal disease.
Topics: Adolescent; Adult; Animals; Anus Diseases; Crohn Disease; Denmark; Disease Progression; Female; Follow-Up Studies; Humans; Incidence; Male; Perianal Glands; Prognosis; Prospective Studies; Risk Factors; Time Factors; Young Adult
PubMed: 30576474
DOI: 10.1093/ibd/izy374 -
Veterinary Clinical Pathology Dec 2018Perianal (hepatoid) gland tumors are common in dogs, and the distinction between the benign and malignant forms is clinically important. Cytology of these tumors...
BACKGROUND
Perianal (hepatoid) gland tumors are common in dogs, and the distinction between the benign and malignant forms is clinically important. Cytology of these tumors typically contains many large hepatoid cells and fewer small basal cells.
OBJECTIVES
The objective of this study was to determine whether the proportion of the smaller basaloid reserve cells in cytologic samples from perianal tumors correlates with malignancy.
METHODS
Eighty-three cases of cytologically diagnosed perianal gland tumors with corresponding histopathologic sections were identified from two separate institutions and included six (7.2%) malignant tumors and 77 (92.8%) benign tumors. The proportion of basal cells from each sample was evaluated.
RESULTS
No difference between these groups was found, although the study was sufficiently powered to detect an approximately 1.5-fold change in basal cell proportion.
CONCLUSIONS
This report found no evidence that the proportion of basal cells in canine perianal tumor cytology is an indication of the potential for malignancy. We, therefore, do not recommend citing this feature in cytologic reports or when communicating with clinicians.
Topics: Anal Gland Neoplasms; Animals; Case-Control Studies; Dog Diseases; Dogs; Female; Male; Perianal Glands; Retrospective Studies
PubMed: 30415503
DOI: 10.1111/vcp.12671 -
Veterinary Clinical Pathology Dec 2018Fine-needle aspirates from a perianal mass on an 8-year-old, intact male, Miniature Poodle presenting for tenesmus showed a uniform population of well-differentiated...
Fine-needle aspirates from a perianal mass on an 8-year-old, intact male, Miniature Poodle presenting for tenesmus showed a uniform population of well-differentiated hepatoid cells with no notable criteria of malignancy. The cytologic diagnosis was a perianal gland tumor, with adenoma likely given the cytomorphology. The abdominal ultrasound revealed multiple, markedly enlarged, intra-abdominal lymph nodes. LN aspirates also showed well-differentiated polygonal, hepatoid cells displaying no notable cellular atypia. The presence of the metastasis led to the interpretation of a well-differentiated, malignant perianal gland tumor despite the benign cellular appearance. Histopathology of the surgically excised perianal mass and one enlarged abdominal lymph node revealed lobules of uniform polygonal hepatoid cells arranged in organized islands and trabeculae surrounded by a single layer of uniform reserve cells. Few mitotic figures were present. The only histopathologic indication of malignancy within the primary mass was the presence of small islands of well-differentiated hepatoid cells infiltrating into adjacent tissue and possible lymphatic invasion. The histopathologic diagnosis was perianal gland adenocarcinoma. Most textbooks describe perianal gland adenocarcinomas as showing increased cellular atypia including pleomorphism, disorganization of hepatoid cells, and increased numbers of pleomorphic reserve cells with mitotic figures. This case is an example of the occurrence of a well-differentiated perianal gland tumor with metastasis and highlights the importance of realizing that with these tumors, a benign cytologic and histologic appearance may not correlate with biologic behavior. To the authors' knowledge, this is the first case reporting both the cytologic and histologic appearance of a well-differentiated metastatic hepatoid gland tumor.
Topics: Anal Gland Neoplasms; Animals; Biopsy, Fine-Needle; Dog Diseases; Dogs; Lymph Nodes; Male; Perianal Glands
PubMed: 30347120
DOI: 10.1111/vcp.12662 -
Cirugia Espanola Mar 2019
Topics: Animals; Dermatitis; Diagnosis, Differential; Female; Humans; Keratin-7; Middle Aged; Paget Disease, Extramammary; Perianal Glands; Pruritus; Treatment Outcome
PubMed: 30241672
DOI: 10.1016/j.ciresp.2018.08.001 -
The Veterinary Clinics of North... Jan 2019Canine perianal fistulas are painful sinus tracts and ulcers that spontaneously develop in the skin around the anus. Middle-aged German shepherd dogs are most commonly... (Review)
Review
Canine perianal fistulas are painful sinus tracts and ulcers that spontaneously develop in the skin around the anus. Middle-aged German shepherd dogs are most commonly affected and may have a genetic susceptibility. Although the disease was once believed related to conformational factors and primarily managed surgically, an immune-mediated pathogenesis is now recognized. Long-term medical management with immunomodulatory agents has become standard of care for canine perianal fistulas. Perianal fistulas can be debilitating and have a negative impact on quality of life of dogs and owners. Accurate diagnosis and aggressive medical therapy are key to successful management of canine perianal fistulas.
Topics: Animals; Anus Diseases; Dog Diseases; Dogs; Fistula; Perianal Glands; Veterinary Medicine
PubMed: 30213533
DOI: 10.1016/j.cvsm.2018.08.006 -
In Vivo (Athens, Greece) 2018Neoplastic lesions of perianal glands account for approximately 10% of all skin cancer cases in dogs. They occur in many dog breeds, usually in male animals aged over 6...
BACKGROUND/AIM
Neoplastic lesions of perianal glands account for approximately 10% of all skin cancer cases in dogs. They occur in many dog breeds, usually in male animals aged over 6 years. Due to their hormone-dependency, tamoxifen can be used in antineoplastic treatment. The aim of the study was to measure epidermal growth factor (EGF) levels in the serum of dogs with perianal tumours after tamoxifen treatment and to use it as a prognostic factor for further treatment.
MATERIALS AND METHODS
The study was performed on 19 male dogs aged between 6 and 14 years, diagnosed with neoplastic hyperplasia in the perianal region. The control group comprised 10 healthy dogs brought in for routine castration. The research material comprised blood drawn from the animals and tumour specimens for histopathology. The study group received 1-month treatment with tamoxifen. Blood serum was then tested for 17-β oestradiol level, and for EGF level on the first day of the therapy and 6 months after treatment completion.
RESULTS
Hepatoid gland adenomas were diagnosed in 10 cases, and hepatoid gland epitheliomas in nine cases. Elevated 17-β oestradiol levels were observed in all dogs. On the first day of treatment with tamoxifen, the serum EGF levels in all study groups were higher than in the control group. At the 6-month follow-up, the EGF levels were significantly reduced in hepatoid gland adenoma cases compared to those taken on the first day of treatment of tamoxifen, while in animals with hepatoid gland epithelioma, it was greatly increased and was correlated with relapse.
CONCLUSION
Perianal gland tumours are characterised by EGF overexpression, which can be helpful in early-stage prognosis and treatment. An increase in EGF levels 6 months after tamoxifen therapy correlates with disease progression and may be a useful prognostic factor.
Topics: Adenoma; Anal Gland Neoplasms; Animals; Carcinoma; Dogs; Epidermal Growth Factor; Male; Tamoxifen
PubMed: 30150441
DOI: 10.21873/invivo.11361 -
BMJ Case Reports Jul 2018Hidradenoma papilliferum is an uncommon benign tumour that is located in the anogenital region of middle-aged women. They are usually only diagnosed after excision and...
Hidradenoma papilliferum is an uncommon benign tumour that is located in the anogenital region of middle-aged women. They are usually only diagnosed after excision and are thought to arise from anogenital mammary-like glands. We present the case of a young woman who noticed a slow growing perianal lump which caused minimal symptoms.
Topics: Adenoma, Sweat Gland; Adult; Anus Neoplasms; Colonoscopy; Female; Humans; Immunohistochemistry; Perineum; Sweat Gland Neoplasms; Treatment Outcome
PubMed: 30061121
DOI: 10.1136/bcr-2017-220354