A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14.

BACKGROUND: To undertake a clinical and molecular analysis of a previously unpublished kindred with a phenotypically distinct vitreoretinopathy characterized by associated ocular developmental abnormalities. DESIGN: Family genetic study. PARTICIPANTS: A total of 23 members, both affected and unaffected, of 1 kindred with vitreoretinopathy. METHOD: Individuals within the kindred were examined clinically and blood samples taken for DNA analysis. Genetic analysis was performed for the proximal region of chromosome 5q by means of polymerase chain reaction (PCR). MAIN OUTCOME MEASURES: Detection of vitreoretinopathy and associated abnormalities. RESULTS: This novel, hereditary vitreoretinopathy, showing the classic features of vitreous pathology and early-onset retinal detachments, was associated with a variety of ocular developmental abnormalities, including posterior embryotoxon, congenital glaucoma, iris hypoplasia, congenital cataract, ectopia lentis, microphthalmia, and persistent hyperplastic primary vitreous. There were no associated systemic features. Genetic mapping with markers from the proximal region of 5q13-q14 showed linkage to a 5-cM region between the markers D5S626 and D5S2103. CONCLUSIONS: The 5-cM region is within that implicated in the etiology of both Wagner and erosive vitreoretinopathies. This suggests that this novel condition may be allelic, refines the genetic mapping for vitreoretinopathies that map to 5q13-q14, and implicates a gene important not only in vitreous production but also in early ocular development.

Prophylaxis with nystatin pastilles for HIV-associated oral candidiasis.

To determine whether daily use of nystatin pastilles can prevent initial outbreak or recurrence of oral candidiasis in HIV-infected patients and to identify factors associated with outbreaks during 20-week follow-up, a randomized, double-blind, placebo-controlled clinical trial was conducted. Subjects were 128 HIV-infected men (aged 27-60 years) who either had had no documented episode of oral candidiasis in the previous year or had been clinically clear of oral candidiasis for at least 72 h before randomization. Study arms were two placebo pastilles, one nystatin (200,000 U) and one placebo pastille, or two nystatin pastilles daily for 20 weeks. The main outcome measure was time to oral candidiasis, as determined by potassium hydroxide (KOH) smear and fungal culture. A multivariate proportional hazards model showed that four factors were significant (p < 0.001) in predicting time to oral candidiasis: nystatin treatment (hazard ratio 0.59), history of oral candidiasis (3.58), Candida albicans carriage (2.79), and CD4 count at randomization (0.65). In this small group of subjects, nystatin appeared to be effective in delaying onset of oral candidiasis. Patients with CD4 counts < 200 who are carriers of C. albicans and have a history of oral candidiasis may be most likely to benefit from antifungal prophylaxis.

Fluconazole-resistant Candida in AIDS patients. Report of two cases.

Oropharyngeal candidiasis develops in up to 95% of patients with acquired immunodeficiency syndrome. Oral fluconazole is frequently prescribed for persons who are human immunodeficiency virus-seropositive as initial or suppressive therapy for oropharyngeal and esophageal candidiasis or as suppressive therapy for cryptococcal meningitis. We report two cases of oropharyngeal candidiasis, caused by Candida albicans, which developed in two patients with acquired immunodeficiency syndrome who had taken fluconazole for extended periods. In addition to the clinical resistance we observed, isolates of the organism appeared to be resistant in vitro to fluconazole and ketoconazole.

Multi-focal oral non-Hodgkin's lymphoma in an AIDS patient.

Cases of non-Hodgkin's lymphoma (NHL) occurring in immunosuppressed patients, including those who are infected with the human immunodeficiency virus, may develop in areas other than the lymph nodes. In AIDS-associated NHL, about 5% of cases of extranodal NHL are intra-oral. This case report describes the presentation of malignant non-Hodgkin's lymphoma in the mouth of a man who had AIDS. The lesion arose on separate occasions at three distinct sites, spontaneously regressing at each site prior to appearing at another intra-oral site.

Oral Kaposi's sarcoma: a 10-year retrospective histopathologic study.

Microscopic diagnosis of early Kaposi's sarcoma continues to be a challenge to the pathologist, as does the identification of bacillary angiomatosis (BA) which may have a similar appearance. 120 oral Kaposi's sarcoma (KS) biopsies submitted to the UCSF oral pathology service from 1981-1991 were reviewed in order to describe the clinical-pathologic spectrum of these lesions and to search for unrecognized cases of BA. Also, histopathologic features of oral KS were compared to 30 oral pyogenic granulomas, and immunohistochemical stains for endothelium-associated CD34 antigen were done. The diagnosis of KS was confirmed in all biopsies and no cases of BA were found. Histologically, the KS specimens exhibited numerous features that separated them from pyogenic granulomas, and could themselves be divided into two clinical-pathologic subtypes: small, well-delineated macular lesions (31), which were characterized by inconspicuous patches of spindle cells containing ill-defined vascular spaces; and larger, infiltrative nodular lesions (89), which were characterized by spindle cells lining vascular slits and bizarre-shaped vessels. Extravasated RBCs were evident in almost all KS lesions; hemosiderin deposits and hyaline globules were seen in half of each of the small and large lesions. Nuclear atypia was minimal and mitotic activity was slight. Lymphocytes in small lesions added to the difficulty of microscopic interpretation of these incipient lesions. CD34 was expressed on all spindle cells lining vascular spaces in larger lesions and on spindle cells of small, subtle lesions. We conclude that within the spectrum of lesions that are diagnosed as oral KS, two clinical-pathologic types can be identified: macular small spindle-cell lesions and nodular infiltrative vascular lesions.(ABSTRACT TRUNCATED AT 250 WORDS)

Suture needle drainage of subretinal fluid.

A simple technique is described for the transcleral drainage of subretinal fluid during retinal detachment repair. In a prospective study of 94 consecutive suture needle drainage procedures subretinal fluid was successfully drained in 91 cases. There were six 'significant' subretinal haemorrhages associated with the procedure, but none was subfoveal in location or directly compromised the surgical outcome. In no case was retinal incarceration or retinotomy observed.

Oral T-cell lymphoma associated with celiac sprue. A case report.

Celiac sprue, also called nontropical sprue, is a malabsorption syndrome with symptoms that are triggered mainly by gluten ingestion. Non-Hodgkin's lymphoma of the gastrointestinal tract has been reported in patients with a long history of celiac sprue. This case report describes the occurrence of primary oral lymphoma in such a patient. This case is unusual because lymphomas associated with celiac sprue usually develop in the small intestine or in the stomach, and primary lymphoma in the mouth is itself uncommon.

Cytomegalovirus infection presenting as acute periodontal infection in a patient infected with the human immunodeficiency virus.

During childhood, many people acquire primary infection with cytomegalovirus (CMV), one of the herpes viruses. If they later become immunosuppressed, such as occurs with human immunodeficiency virus (HIV) infection, CMV is likely to become reactivated. Severe disease caused by CMV is life-threatening in the HIV-infected population. CMV retinitis, gastritis, colitis, pneumonia, encephalitis and hepatitis have all been reported, but oral lesions due to infection with CMV are rarely reported. We report a case of oral CMV infection which at first was clinically indistinguishable from HIV-associated periodontal disease.

Natural history of HIV-associated salivary gland disease.

To describe the natural history of HIV-associated salivary gland disease, which is characterized by enlarged major salivary glands and/or xerostomia in HIV-infected persons, we assessed 22 patients at an initial and follow-up examinations (median span of examinations, 15 months). Sixteen patients (73%) had bilateral parotid gland enlargement, 17 had symptoms of dry mouth, and 11 had both conditions. Parotid gland enlargement remained unchanged in 10 patients, it progressed in 2, and it regressed in 4 during treatment with zidovudine or steroids. Those patients with parotid gland enlargement had a significantly lower mean stimulated parotid flow rate (0.27 ml/min/per gland) than a control group of HIV+ persons without salivary gland disease (0.48 ml/min/per gland) (p less than 0.05), whereas the mean unstimulated whole salivary flow rates did not did not differ significantly between the two groups. The mean salivary flow rate of the study group did not change during the observation period. When HIV-associated salivary gland disease was diagnosed, 5 patients (23%) had AIDS, and at follow-up 10 (46%) had AIDS. Seven of these had Kaposi's sarcoma. The mean peripheral blood CD4 cell count was 280 and 225 per mm3 at the initial and follow-up examinations, respectively. The corresponding CD8 counts were 1138 and 900. The pathogenesis of HIV-associated salivary gland disease may include hyperplasia of intra-parotid lymphoid tissue. Because HIV-associated salivary gland disease can clinically resemble Sjögren's syndrome, the differential diagnosis of bilateral parotid enlargement should include HIV infection.

Unusual oral presentation of non-Hodgkin's lymphoma in association with HIV infection.

In 4.4% of human immunodeficiency virus-associated non-Hodgkin's lymphoma the presenting lesion is seen in the mouth. Often the lesion may clinically resemble a less sinister process, and a definitive diagnosis of lymphoma may be delayed. We describe three unusual cases of non-Hodgkin's lymphoma, appearing intraorally in association with other oral lesions, in HIV-positive homosexual men. The three patients reported here were all diagnosed as having diffuse, large-cell malignant non-Hodgkin's lymphoma. We performed Epstein-Barr virus DNA in-situ hybridization on our cases and Epstein-Barr virus DNA sequences were not seen. We review the pertinent literature and stress the importance of including non-Hodgkin's lymphoma in the differential diagnosis of oral lesions in patients at risk of HIV infection.

Sialochemistry in human immunodeficiency virus associated salivary gland disease.

Human immunodeficiency virus (HIV) associated salivary gland disease is defined as the presence of enlargement of one or more major salivary glands and/or diminished salivary function in an HIV infected individual. It has a number of similarities to, as well as differences from, Sjögren's syndrome (SS). We studied the sialochemistry of stimulated parotid saliva of 11 patients with HIV associated salivary gland disease and bilateral parotid gland enlargement, and compared these findings with those of 15 HIV negative controls, 13 HIV positive individuals with no salivary gland involvement and 18 individuals with SS. The patients with HIV associated salivary gland disease had a significant decrease in the level of salivary protein, with increases in salivary IgA, lysozyme and albumin compared to the HIV negative controls. There were no changes in concentration of electrolytes. The sialochemistry among the patients with HIV associated salivary gland disease was unrelated to the degree of immune suppression and did not change over a 6 month period. The observed changes were similar to those of SS but less pronounced. The similar clinical, histologic and sialochemical features of HIV associated salivary gland disease and SS suggest that these conditions share common pathogenetic mechanisms, which may be modified in the former by the HIV infection.

Oral candidiasis in HIV infection: pseudomembranous and erythematous candidiasis show similar rates of progression to AIDS.

Candidiasis is the most common oral fungal infection seen in association with HIV infection. It may present in a number of clinical forms, including pseudomembranous and erythematous candidiasis. To determine whether erythematous candidiasis, like the pseudomembranous form, is predictive of the development of AIDS, we reviewed the records of 169 HIV-seropositive patients seen at clinic of the Oral AIDS Center, University of California, San Francisco who were diagnosed with pseudomembranous or erythematous (or both) forms of oral candidiasis at their first examination. Kaplan-Meier analysis showed a rapid rate of progression to AIDS (median, 25 months) and to death (median, 43.8 months) in all three groups. We conclude that erythematous candidiasis is as serious a prognostic indicator as pseudomembranous candidiasis. Because the erythematous form is more difficult to recognize and hence is underdiagnosed, efforts should be made to teach non-dental clinicians who care for HIV-infected patients to diagnose and treat this lesion.

Oral Kaposi's sarcoma in a woman as a first indication of HIV infection.

Although Kaposi's sarcoma has been well described in homosexual men at risk for infection with the human immunodeficiency virus, there have been fewer reports of KS in women, and most of these have been in women who became infected with HIV through intravenous drug use. This report describes a woman who had no history of intravenous drug use in whom intraoral KS and hairy leukoplakia were the first indication of her infection with HIV.

A large outbreak of keratoconjunctivitis due to adenovirus type 8.

A large nosocomial outbreak of keratoconjunctivitis due to adenovirus type 8 is described. Two hundred cases were identified, 123 by isolation of the virus and 77 by detecting HI antibodies in convalescent sera. Infection usually presented as a severe keratoconjunctivitis, and 107 (54%) of infected patients developed sub-epithelial corneal opacities. The majority (66%) of infections were acquired at the accident and emergency department attached to a large urban eye hospital when patients attended for other reasons; trauma to the eye, especially corneal foreign bodies, was the most frequent cause for the initial attendance. Transmission of virus within the family occurred in 13% of cases, but there was little spread outside family or hospital environments. The outbreak lasted from May to September, 1982, but it was not confirmed by isolation of the virus until the end of June when control measures were instituted. Delay in applying control measures was probably the major factor accounting for this large, prolonged outbreak of epidemic keratoconjunctivitis.

Peripheral argon laser iridectomy in narrow-angle glaucoma.

Gas argon laser peripheral iridectomy was attempted as an alternative to surgical peripheral iridectomy in the treatment of acute angle-closure glaucoma and the prophylactic treatment of fellow eyes. Success was achieved in eyes with a blue iris if sufficient energy was given to achieve a permanent red reflex. Reasons for failure in eyes with a heavily pigmented iris are discussed. The procedure must be greatly improved before surgical peripheral iridectomy is superseded as the treatment of choice.