[Chronic mucocutaneous candidiasis with STAT1 gain-of-function mutation associated with herpes virus and mycobacterial infections]. / Candidose cutanéo-muqueuse chronique avec mutation gain-de-fonction du gène STAT1 associée à des infections herpétiques et à mycobactérie.

INTRODUCTION: Chronic mucocutaneous candidiasis (CMC) is characterized by susceptibility to chronic or recurrent infections with yeasts of the genus Candida affecting the skin, nails and mucous membranes. We describe a Moroccan patient presenting CMC with heterozygous STAT1 gain-of-function (GOF) mutation. PATIENTS AND METHODS: A 5-year-old boy with no consanguinity presented recurrent episodes of oral thrush, chronic nail candidiasis and herpetic gingivostomatitis from the age of 8 months. He also had mycobacterial adenitis secondary to BCG vaccination and atypical rosacea. Genetic analysis revealed GOF mutation of the STAT1 gene. DISCUSSION: CMC was diagnosed in our patient despite poor clinical features. Sequencing of the genome revealed STAT1GOF mutation. This mutation affects production of IL-17, an important cytokine in mucocutaneous defense against Candida. The association with mycobacterial adenitis is rare and continues to be poorly understood. The presence of atypical rosacea in this setting is suggestive of this entity. Antifungal therapy and prevention of complications are necessary to reduce the morbidity and mortality associated with this condition. CONCLUSION: CMC due to STAT1GOF mutation is characterized by a broad clinical spectrum and should be considered in all cases of chronic or recurrent fungal infection, whether or not associated with other infections.

Epstein-Barr virus (EBV)--associated posttransplant lymphoproliferative disorder appearing as mandibular gingival ulcers.

Posttransplant lymphoproliferative disorders (PTLDs) comprise a spectrum of complications that affect immunocompromised patients following hematopoietic stem cell transplantation or solid organ transplantation. Its incidence varies depending on the transplanted organ, occurring in approximately 2.3% of kidney transplantations. A 31-year-old woman was referred to the Dental Clinic of the State University of Western Paraná for evaluation of an oral lesion. Her medical history revealed a previous diagnosis of hypertension, Epstein-Barr virus (EBV) seropositivity, and kidney transplantation 12 years prior. She was under standard immunosuppressive therapy. Intraoral examination identified a gingival necrotic lesion with extension to the posterior right lower alveolar bone. An incisional biopsy was performed. Histologic examination showed lymphocytic proliferation of cells with small and hyperchromatic nuclei, atypical mitosis, and cells with large and pale nuclei showing prominent nucleoli permeating connective tissue, muscle fibers, and adipocytes. Correlation of clinical, histologic, and immunohistochemical findings led to a diagnosis of polymorphic EBV-associated PTLD rich in B and T cells.

Oral mucosal lesions and immune status in HIV-infected Indian children.

OBJECTIVE: Pediatric HIV is growing at an alarming rate in developing countries. Due to their compromised immune status, children infected with HIV are prone to a number of opportunistic infections. Oral manifestations are the first signs of the disease in many of them. To assess the oral mucosal status of Indian children with HIV, based on their CD4 cell counts. METHODOLOGY: Two hundred and twenty one HIV infected children aged 6-18 years from various HIV centers, were divided into three groups, based on their CD4 cell counts; Group 1: ≥500, Group 2: 201-499 and Group 3: ≤200 cells. The children in each group were further considered as 'prior to antiretroviral treatment (ART)' and 'on ART'. Oral mucosal examination was done based on presumptive criteria given by Ramos-Gomez for diagnosis of oro-facial lesions commonly associated with HIV infection in children. Data obtained was subjected to statistical analysis. RESULTS: Angular cheilitis and pseudomembranous candidiasis were the frequently seen oral lesions. Children with CD4 cell count ≥500 had significantly fewer oral lesions each. CONCLUSION: A high percentage of HIV-infected children were affected with oral mucosal lesions. There was a significant association between immune status and frequency of oral lesions.

Focal epithelial hyperplasia (Heck's disease) in two Chinese females.

Focal epithelial hyperplasia, or Heck's disease, is a relatively rare virus-induced benign disease. To the best of the authors' knowledge it has not been reported in an ethnic Chinese population. The authors report two cases of focal epithelial hyperplasia (FEH) in Chinese patients, which were clinically and histologically in accord with FEH. In particular, the lesions in one case were located on the gingival mucosa, which is rarely affected by FEH. DNA extracted from paraffin-embedded specimens from the two patients was tested for the presence of human papilloma virus followed by specific polymerase chain reaction testing for 16, 18, 13, and 32 subtypes in order to confirm the clinical diagnosis.

Oral eosinophilic ulcer, an Epstein-Barr virus-associated CD30+ lymphoproliferation?

Eosinophilic ulcer of the oral mucosa is a benign lesion of unclear pathogenesis mostly affecting the tongue. It has been suggested to represent a reactive pattern to several stimuli. We report on a 12-year-old boy who presented with a painless infiltrating ulcer on the gingiva of the lower jaw, which was covered by necrotic yellowish slough. There were no pathologic features of the jawbones or regional lymph nodes. Histopathological, immunohistochemical and gene rearrangement studies were in agreement with eosinophilic ulcer with predominant oligoclonal CD3+ and CD30+ T lymphocytes expressing the Epstein-Barr virus membrane protein. The ulcer resolved within 4 weeks and follow-up for 3 years revealed no evidence of recurrence. Epstein-Barr virus may have played a role in triggering this reactive lymphoproliferative disorder.

Human cytomegalovirus in peripheral giant cell granuloma.

BACKGROUND: The peripheral giant cell granuloma is a relatively common non-neoplastic inflammatory lesion of gingiva, but the etiopathogeny remains unknown. This study aimed to evaluate the importance of human cytomegalovirus and Epstein-Barr virus in a peripheral giant cell granuloma of a 47-year-old female. METHODS: The lesion was studied clinically, histopathologically, immunologically and virologically using established procedures. RESULTS: The gingival growth was located at the mesial surface of the maxillary left canine having a vital pulp. The mass was 12 x 21 mm in size and exhibited a smooth surface with no evidence of fluctuation on palpation. An excisional biopsy revealed giant cells in a fibrohistiocytic stroma with areas of haemorrhage. Serum protein levels and lymphocyte subsets were within normal limits, except CD3(+) and CD4(+) cells were below normal ranges. Polymorphonuclear leukocytes expressed p150,95 (CD11c/CD18) and CXCR-2 receptors within normal ranges, but the CXCR1 receptor showed decreased density, and CD15 were below normal range. A virological sample of the tooth surface adjacent to the gingival swelling yielded 7.6 x 10(3) copy-counts of cytomegalovirus and 4.3 x 10(3) copy-counts of Epstein-Barr virus. CONCLUSIONS: The clinical and histological findings were consistent with the diagnosis of peripheral giant cell granuloma. Cytomegalovirus has the potential to induce multinucleated giant cells, and the possibility that the virus contribute to the development of peripheral giant cell granuloma merits further study.

Intraoral molluscum contagiosum imitating a squamous-cell carcinoma in an immunocompetent person--case report and review of the literature.

A case of intraoral molluscum contagiosum involving the right distal alveolar bridge of an immunocompetent person is reported. A review of the literature, with only five previously published cases, revealed that involvement of the oral soft tissues is rare.

Oral posttransplantation lymphoproliferative disorder: an uncommon site for an uncommon disorder.

In 2001, the World Health Organization (WHO) published its new classification of tumors of hematopoietic and lymphoid tissues, including an entity named posttransplantation lymphoproliferative disorder (PTLD). Because oral PTLD is of clinical relevance to oral health providers, the importance of distinguishing between PTLD and nontransplantation related lymphoma is outlined, and the clinical implications of oral PTLD are discussed.

Epstein-Barr virus-associated lymphoproliferative disease in oral cavity in a renal transplant recipient: a case report.

A 10-yr-old child on long-term cyclosporin immunosuppression for a renal transplant presented with gingival swelling enlargement, in a background of gingival hyperplasia. It is tempting to assume that it is a drug-related lesion; perhaps, an area of plaque-related inflammation. An incisional biopsy revealed a monomorphic B-cell post-transplant lymphoproliferative disease (PTLD). At this stage, high Epstein-Barrr virus (EBV) titres supported a diagnosis of EBV-driven PTLD. Despite discontinuation of cyclosporin and reduction of EBV viral load to undetectable levels, there was considerable enlargement of the tumour. The patient underwent six courses of cyclophosphamide, vincristine and prednisolone chemotherapy. This resulted in a dramatic reduction in the size of the right mandibular mass with complete mucosal healing intra-orally. Her renal transplant still has good function and there is no evidence of PTLD recurrence 23 months after initial diagnosis. This case illustrates that PTLD can manifest in unusual sites and in transplant recipients on cyclosporin immunosuppression it is easy to assume that any gingival hyperplasia is drug induced; however, the differential diagnosis of gingival hyperplasia should include PTLD.

Highly sensitive detection of HPV-DNA in paraffin sections of human oral carcinomas.

BACKGROUND: Although human papillomavirus (HPV) infection has been shown to be a significant carcinogen in cervical squamous cell carcinoma (SCC), its significance in oral SCC remains unclear. METHODS: We developed highly sensitive detection methods for HPV to elucidate the prevalence and localization of HPV in paraffin sections from human oral SCC using modified in situ polymerase chain reaction (PCR) and in situ hybridization AT tailing (ISH-AT). Analyses revealed a high prevalence of several HPV types (HPV-16, -18, -22, -38 and -70) under optimal conditions. The ISH-AT method can be used as an alternative to in situ PCR. RESULTS: Various staining patterns were observed in the 20 cases examined, and HPV-positive cells were localized within the surface epithelium as well as in neoplastic cells. We demonstrated that HPV-DNA could be detected in paraffin sections using either the method of in situ PCR or ISH, providing an appropriate primer and probe are used. CONCLUSION: These results suggest that HPV infection could be one of several risk factors being involved in oral SCC.

Intraoral molluscum contagiosum: a report of a case and a review of the literature.

Molluscum contagiosum (MC) occurring on the face, lips, and perioral region is a relatively common manifestation of this infectious disease. MC of the intraoral mucosa has been documented, but is rare. This report details the case of a 52-year-old HIV-seropositive man with MC of the gingiva. A review of the literature discloses only 4 previously reported cases of intraoral MC.

Erythema multiforme secondary to herpes simplex infection: a case report.

BACKGROUND: Erythema multiforme (EM) is a complex disease that may have cutaneous and/or mucosal involvement. The severity may range from mild to severe and potentially life threatening. The literature cites many factors including viruses, infections, and medications as causes. This report documents a patient who developed EM secondary to a herpes simplex viral (HSV) infection. METHODS: Two weeks following an eruption of herpes labialis, a 20-year-old white female patient developed acutely painful oral and labial ulcers accompanied by target skin lesions. A diagnosis of erythema multiforme (EM) was made. The patient was treated with antivirals, analgesics, and symptomatic therapy. RESULTS: Nine days after the onset of symptoms, the oral and cutaneous lesions had started to heal and the patient no longer required pain medication. CONCLUSIONS: Although the etiology of EM is still often unknown, infections with herpes simplex virus have been implicated as a possible precipitating factor. This case illustrates the association of the occurrence of EM with an HSV infection.