Histologic, ultrastructural, and immunocytochemical features of the granulomas seen in a child with the syndrome of familial granulomatous arthritis, uveitis, and rash.

A family with a syndrome consisting of granulomatous arthritis, uveitis, and rash was first described in 1985. Another family with the same syndrome was described subsequently in 1990. The condition, in both families, is clinically different from sarcoidosis. To verify whether the granulomas in such patients also could be distinctive, we performed histologic, ultrastructural, and immunocytochemical studies on skin and synovial biopsy specimens from a child under our care who suffered from the same syndrome. The results indicated that the granulomas could not be distinguished from those seen in sarcoidosis either by light microscopy or by immunocytochemical studies. However, by electron microscopy, "wormlike" or "comma-shaped" bodies were noted within the cytoplasm of epithelioid cells. The significance of this observation is discussed.

Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis.

OBJECTIVE: To determine whether HLA and autoimmunity contribute to the pathogenesis of Blau syndrome (familial granulomatous arthritis, uveitis, and rash) and evaluate whether this condition is related to sarcoidosis. DESIGN: Large family survey. SETTING: General community, Green Bay, Wis, and two tertiary care medical centers in Philadelphia, Pa. PARTICIPANTS: Thirty-six family members and spouses from a large kindred with Blau syndrome. SELECTION PROCEDURES: Volunteer and convenience sample. INTERVENTIONS: None. MEASUREMENTS AND RESULTS: Ten affected and many unaffected subjects were personally examined. Medical records and previous biopsy reports and specimens, when available, were reviewed. Two affected subjects had skin biopsies performed and three affected adult subjects were tested with Kveim skin-test reagent. Serologic and genomic class I and class II HLA typing was performed on 27 affected and unaffected subjects. All 13 living affected subjects and the one obligate carrier had the following assays performed; antinuclear antibody titer, rheumatoid factor, serum angiotensin converting enzyme level, quantitative immunoglobulins of the IgG, IgM, and IgA classes, and clinical chemistry profiles. Several had complete blood cell counts and erythrocyte sedimentation rates performed. Four affected subjects, one possibly affected subject, and one obligate carrier were newly identified. Flexion contractures of the fingers and toes (camptodactyly) were found, for the first time, to be a phenotype characteristic. Earlier onset and worsening of symptoms in succeeding generations (anticipation) were observed. Sixteen HLA haplotypes were identified. No conclusive evidence for linkage between these haplotypes and phenotype expression could be demonstrated. All 13 affected subjects, however, carried the DR2 (DR beta 1*1501) and/or DR4 (DR beta 1*0401) allele. There was no evidence of hypercalcemia, hypergammaglobulinemia M, rheumatoid factor production, or abnormal blood cell counts. Two affected subjects had low-titer antinuclear antibody screening tests, five had mild to moderately elevated IgG and/or IgA levels, two had raised serum angiotensin converting enzyme levels, and three had mild elevation of the erythrocyte sedimentation rate. All three subjects tested with Kveim skin-test reagent showed no reactivity by visual inspection. Both subjects who had had skin biopsies performed had evidence of granulomatous inflammation. CONCLUSIONS: This family's illness is distinct from both classic and early-onset sarcoidosis. There is minimal evidence for autoimmunity and systemic inflammation. Camptodactyly should be added to the list of syndrome-defining characteristics. Although HLA haplotypes do not appear to segregate with affected subjects, HLA-DR2 and HLA-DR4 subtypes may play a permissive role in phenotype expression. This family represents a unique opportunity to define the molecular mechanisms involved in the initiation of arthritis and uveitis in humans. Genetic linkage studies to determine the chromosomal location of the Blau syndrome gene are in progress.

Osteolysis of the calcaneus in a child with localized scleroderma.

In a young girl with localized scleroderma a circumscribed area of lysis developed in the calcaneus beneath the involved skin and soft tissues of the foot. A biopsy revealed vascular changes characteristic of scleroderma associated with infarction and severe resorption of the bone. A geographic pattern of bone destruction in a child with localized scleroderma has not previously been reported.

Isolated anterior uveitis in a child with acquired immunodeficiency syndrome.

A ten-year-old boy with a four-year history of symptomatic human immunodeficiency virus infection had granulomatous iridocyclitis that subsequently resolved with topical corticosteroid and cycloplegic therapy. This is the first report, to our knowledge, of isolated anterior uveitis in a child with acquired immunodeficiency syndrome.

Pyomyositis in a child with acquired immunodeficiency syndrome. Patient report and brief review.

Although common in tropical regions, pyomyositis is rare in the continental United States. Fewer than 50 cases have been reported to date. It is characterized by suppuration of large muscle groups that can, if not quickly and appropriately treated, lead to sepsis and death. Diagnosis can be difficult secondary to the atypical appearance of the abscess process early on. Almost all cases have occurred in otherwise healthy people. The simultaneous occurrence of pyomyositis and immunodeficiency is rare. A recent report of a case in an adult with the acquired immunodeficiency syndrome (AIDS) is not, however, unexpected. We describe the first documented occurrence of pyomyositis in a child with AIDS. A brief review of the topic is included. Pyomyositis should be included in the list of unusual infections that can occur in children with AIDS.