Faculty Bibliography

An abused 10-year-old girl with a family history of Huntington's disease developed incapacitating abdominal pain with concomitant behavioral symptomatology suggestive of dementia. The pseudoneurologic nature of her symptoms was clarified through exhaustive evaluation and did not appear to be that of early-onset Huntington's disease. Assessment included pediatric, psychiatric, neurologic, and gynecologic examination; extensive radiologic and laboratory tests; and chronobiology studies. Successful treatment necessitated the integration of numerous therapeutic modalities including dynamically oriented psychotherapy, psychopharmacologic intervention, physical therapy, behavior modification, and electroconvulsive therapy

Idiopathic inflammation and rupture of the posterior tibial tendon (PTT) has received much attention in the recent literature. In this report of the presentation of PTT dysfunction as a manifestation of seronegative inflammatory disease, we describe the clinical and laboratory features of 76 patients with inflammation and/or rupture of the PTT. Analysis of all patients identified two discrete groups. Group A patients were younger (mean age 39 years) and had multiple manifestations of inflammation at other sites of ligament and tendon attachments (enthesopathy). Other features of a systemic inflammatory disorder such as oral ulcers, conjunctivitis, colitis, and especially psoriasis were common in the latter patients and their families. Group B consisted predominantly of elderly patients (mean age 64 years) with isolated dysfunction of the PTT. These two groups differed widely in the manner of clinical presentation, demographic data, family history, HLA data, and surgical pathology. These distinctions suggest different pathogeneses for posterior tibial tendinitis. Group A demonstrated local manifestations of a systemic inflammatory disease, whereas group B exhibited the effects of mechanical trauma and degeneration.

Arthrocutaneous disorders including Reiter's syndrome, psoriasiform rashes, and other forms of chronic arthritis and enthesopathy, such as psoriatic arthritis, occur with an increased prevalence in the setting of HIV infection. Herein we describe the spectrum and prevalence of musculoskeletal and allied skin disorders as they occur in the setting of HIV infection. The role of genetic susceptibility in the development of these disorders is addressed. Based on the frequency of infectious agents capable of triggering reactive arthritis and the presence of HLA-B27 in 71% of these individuals, it is suggested that the disorder strongly resembles Reiter's syndrome as it occurs in the not HIV-infected group. Preliminary evidence indicates an enhanced penetrance for susceptibility among HLA-B27 individuals. In contrast, among HIV-infected patients with psoriasiform lesions there was no statistically significant association (P less than 0.05) between the presence of psoriasiform rash and the HLA alleles Cw6, B7, B17, Bw16, or Bw57 when compared with HIV-infected controls. These findings suggest that among HIV-infected individuals the development of Reiter's syndrome involves an immune recognition event primarily dependent upon HLA-B27 molecules in which an unknown antigen in the context of HLA-B27 is presented to CD8 lineage suppressor/cytotoxic cells. In contrast, the pathogenesis of psoriasiform lesions in HIV patients, despite their similarity to certain lesions in Reiter's syndrome, proceeds by distinct pathways that do not involve events influenced by specific polymorphic class I molecules

Information bearing on the prevalence and character of Reiter's syndrome and allied disorders as they occur in a setting of HIV infection was reviewed. Based on the frequency of infections by organisms capable of inducing reactive arthritis and the presence of HLA-B27 in 71% of the individuals, it was concluded that the disorder strongly resembled Reiter's syndrome occurring in the non-HIV infected group. Preliminary evidence suggested an enhanced penetrance of susceptibility among HLA-B27 individuals. In view of the preservation of CD8 lineage T cells and functional loss of CD4 lineage T cells in HIV-infected patients, it was suggested that a specific immune recognition event is at the center of the pathogenesis of this syndrome which involves preservation of an unknown antigen in the context of HLA-B27 to CD8 lineage suppressor/cytotoxic T cells

Thirteen patients who had the co-occurrence of severe Reiter's syndrome and the acquired immunodeficiency syndrome (AIDS) or its syndromes were studied. The arthritis was reactive in three patients and without defined cause in the others. Nine patients had HLA-B27. The two syndromes appeared simultaneously in four patients, suggesting a common biologic process, and in the others the immunodeficiency either preceded or followed the arthritis. Reiter's syndrome occurring in the setting of this profound immunodeficiency suggests that helper T cells were not involved in the pathogenesis of the rheumatic disease. Difficulties were encountered in the diagnosis of either syndrome in the presence of the other. Two patients with Reiter's syndrome developed Kaposi's sarcoma and fulminant AIDS after receiving methotrexate, which emphasizes the need for caution in the use of immunosuppressive therapy in Reiter's syndrome. An additional patient with undifferentiated spondylarthropathy subsequently developed psoriasis in conjunction with the onset of AIDS