Two Siblings with Juvenile Hyaline Fibromatosis: Case Reports and Review of the Literature

In this paper, we describe two siblings with Juvenile Hyaline Fibromatosis (JHF) who were diagnosed at the age of 34 and 29 years respectively. JHF is a very congenital disease, mainly diagnosed in the first few years of life, with less than 40 published cases in literature. All the main clinical features of this syndrome, which may be summarised as multiple subcutaneous tumours, marked gingival hypertrophy, flexion contractures and osteolytic lesions were present in both of these cases. Clinical, radiological and histological differential diagnosis of JHF were made. Recent information about histopathology, treatment and prognosis of JHF was also reviewed. Received: 24 June 1998 / Accepted: 24 November 1998     

Evaluation of the Jebson hand function test for use in patients with rheumatoid arthritis

Purpose. We have evaluated the Jebson hand function (JHF) test for use in patients with rheumatoid arthritis (RA). Methods. The JHF test was administered to 25 patients with RA. Results were compared to normative data and related to ability to perform activities of daily living (ADL), pain, and deformity. Results. The JHF test detects differences between patients with RA and normals; all components except for writing show correlations with ADL and deformity. There were no significant correlations with pain. Conclusions. The JHF test is a useful adjunct to evaluation of the hand in RA.     

Ankylosing spondylitis in nonhuman primates: the drill and the siamang.

Nonhuman primates are known to be susceptible to many of the arthritides that afflict humans. Psoriatic like spondyloarthropathies have been reported in gorillas and skeletal hyperostosis in gibbons, rhesus monkeys, and gorillas, and additional cases of both of these conditions occurring in drills (baboons) are noted in this report. One western lowland gorilla and two rhesus monkeys with clinical features consistent with ankylosing spondylitis have been documented previously. Two additional nonhuman primate species with radiographic evidence of ankylosing spondylitis are described. A siamang (gibbon) and two drills (baboons) with the classic radiographic features of ankylosing spondylitis, namely a bamboo spine and sacroiliac joint fusion, are reported.     

"Extracaval shepherd's crook" sign: a characteristic radiographic sign of central venous catheter placement in the right internal thoracic vein

Inaccurate positioning is a well-known and documented complication of central venous catheterization. Inadvertent placement of a central venous catheter into the right internal thoracic vein has been reported in the literature; however, the characteristic radiographic appearance for this complication has yet to be described. We report 3 cases that demonstrate central venous catheters improperly terminating in the right internal jugular vein. Characteristic radiographic findings of this altered catheter course are described. Recognition of these characteristic findings should prompt consideration for line repositioning or replacement.     

Volar metacarpal phalangeal joint dislocation: a rare and often missed injury.

Volar metacarpal phalangeal joint dislocations are rare injuries. We could find only eight cases reported, with none in the emergency medicine literature. We present a case report and describe the biomechanics and radiographic findings of this injury.     

Esophageal hematoma associated with thrombocytopenia.

Esophageal hematoma secondary to thrombocytopenia has only recently been described in the literature in a single case report. This article presents the clinical manifestations and radiographic findings of 4 additional cases of esophageal hematoma secondary to thrombocytopenia. Three patients were receiving treatment for leukemia, and the other patient had aplastic anemia. Previously reported cases of esophageal hematomas from other causes are reviewed.     

Pulmonary capillary hemangiomatosis. A report of three cases and a review of the literature

Pulmonary capillary hemangiomatosis (PCH) is a rare cause of pulmonary hypertension. At present, only eleven cases have been reported. This report describes the clinical and pathologic findings in three additional cases who presented to the University of Pittsburgh for heart-lung transplantation and integrates the clinical features of all fourteen cases. Clinically, this disorder should be suspected in a patient who presents with pulmonary hypertension, hemoptysis, a reticulonodular infiltrate on chest radiograph, a lung scan showing inhomogeneously enhanced perfusion (particularly in the lower lobes), and pulmonary angiography showing increased peripheral vascularity corresponding to both the radiographic infiltrate and the areas of enhanced perfusion on lung scan. Histologic features consist of nodular proliferation of capillary-sized vessels that infiltrate the pulmonary interstitium, vascular walls, and lumens as well as the alveolar septa. The vascular invasion results in a secondary veno-occlusive phenomenon that explains the clinical confusion with pulmonary veno-occlusive disease.     

A case of superficial carcinoma of the esophagus on esophageal varices

We report a case of superficial esophageal carcinoma in a patient with esophageal varices. Esophagogram revealed a 2 cm large irregular mucosal elevation during work-up for esophageal varices which was acertained on endoscopical examination to be carcinoma. Biopsy material showed moderately differentiated squamous cell carcinoma. Subtotal esophagectomy was performed followed by reconstruction by cervical esophagogastrostomy through the retrosternal route. Few resected cases of esophageal carcinomas accompanied by esophageal varices have been reported because 1) early radiographic abnormalities of small superficial esophageal carcinomas can be overlooked in the case of large varices and 2) the number of operable cases is limited because of associated liver cirrhosis.     

Bronchiolitis obliterans organizing pneumonia after adjuvant thoracic radiotherapy for breast cancer: a case report]

We report a case of recurrent cough and migratory pulmonary infiltrates in a 55-year-old woman after adjuvant thoracic radiotherapy for breast cancer. The pulmonary infiltrates were initially limited to the area adjacent to the irradiated breast, but later migrated to the opposite lung. The diagnosis of bronchiolitis obliterans organizing pneumonia (BOOP) was made using a transbronchial biopsy, which disclosed intraluminal fibrosis in the distal airspace, together with a radiographic appearance typical of BOOP. This case was assumed to be in a series of reported cases of BOOP primed by radiotherapy.     

Recurrent laryngeal papillomatosis with bronchopulmonary spread in a 70-year-old man

Recurrent laryngeal papillomatosis (RRLP) which is characterized by wart like growths in the larynx is a rare benign disease seen in children and young adults and a few cases are reported in old aged adults. The spread of RRLP throughout the respiratory tract occurs rarely; and involvement of the distal bronchi, bronchioles, and lung parenchyma is very rare. We report a case of tracheobronchial and pulmonary spread of RRLP in a 70-year-old man after two previous surgeries. Despite the rarity of this disease in adults, the correct diagnosis may be suggested by a characteristic combination of clinical, radiographic, and pathologic features.     

Multicentric reticulohistiocytosis: case report with immunohistochemical analysis and literature review

This report describes the case of a patient with multicentric reticulohistiocytosis. Immunohistochemical analysis revealed prominent markers of monocyte/macrophage origin, as well as the presence of tumor necrosis factor alpha, interleukin-1beta (IL-1beta), and IL-12; the occurrence of the latter in this disease has not previously been reported. Clinical, laboratory, radiographic, and histologic findings in multicentric reticulohistiocytosis are reviewed. In addition, all published cases of multicentric reticulohistiocytosis which included reports of cytokine and immunohistochemical analysis are reviewed, and evidence for a monocyte/macrophage origin and role in disease pathogenesis is provided.     

Rhodococcus equi pneumonia. An unusual early manifestation of the acquired immunodeficiency syndrome (AIDS)

Infection with Rhodococcus equi has been reported as an occasional cause of cavitary pneumonia in severely immunocompromised patients, including those with the acquired immunodeficiency syndrome (AIDS). We report two cases of R equi pneumonia presenting in one month in patients infected with human immunodeficiency virus (HIV) who had not previously had an opportunistic infection. The clinical and radiographic manifestations of the disease are distinctive and should suggest the diagnosis. R equi pneumonia in a person with HIV infection should be considered diagnostic of AIDS. Recognition of this entity is important since antibiotic therapy is different from that conventionally used in pneumonias in AIDS patients and must be prolonged.     

Detection of rearrangement of immunoglobulin heavy chain and T-cell receptor beta chain in leukemic cells by restricted polymerase chain reaction

Rearrangement of the immunoglobulin heavy chain and of the T-cell receptor beta subunit was analyzed by using restricted polymerase chain reaction (PCR). To differentiate between the germline configuration and the rearranged genome in a DNA sample extracted from lymphocytes, we compared the ratio of the amplified products. The intensity of amplification of the intron region (JHF) upstream of the first joining region was compared to the intensity of joining region 6 of the immunoglobulin heavy chain. The number of the amplification cycles in the PCR was designated in such a way that the ratio of JHF/JH6 was less than one in the rearranged configuration. As the concentration of clonal B-lymphocytes with the rearranged genome in the sample increased the amplification of the JHF intron proportionally decreased. We used the same approach for the two constant regions of the T-cell receptor beta chain. As one of the intron regions of the constant sequence became depleted by rearrangement so the amplification of the particular region decreased. Therefore, the absence or decreased concentration of a particular product of amplification indicated deletion and thus rearrangement of the genome in the leukemic B- or T-lymphocytes. The threshold of detection of cells with the rearranged genome on a photograph of agarose gel loaded with the particular amplified regions and staining with the ethidium bromide is less than 10% by densitometric tracing and 25-50% by visual evaluation. This novel approach allows the detection of the rearranged DNA sequences in a 2 day span. Hence, it can serve as a diagnostic tool for the identification of clonal expansion of lymphocytes in acute leukemias and lymphomas in particular and for the detection of deleted genomic regions in general.     

Allergic bronchopulmonary disease caused by Bipolaris hawaiiensis presenting as a necrotizing pneumonia: case report and review of literature

We report a case of allergic bronchopulmonary disease caused by Bipolaris hawaiisensis in an immunocompetent host, presenting with symptoms and radiographic findings suggestive of necrotizing pneumonia. Cultures of the plugs and bronchial washing yielded the pathogenic fungi. Laboratory tests revealed eosinophilia and elevation of serum IgE. This patient was successfully treated with steroids, amphotericin B lipid complex, and itraconazole. Review of 10 previously reported cases and their clinical manifestations and treatment are presented.     

Malignant tumors of the small intestine

SUMMARY: Malignant tumors of the small bowel are unusual and account for only 1% to 5% of all gastrointestinal tract malignancies. Thirteen cases of malignant tumors of the small bowel identified at the VAMC in Puerto Rico from January 1999 to September 2001 and a review of the literature are presented. The mean age of our cases was 67 (range: 45-78). Vague abdominal pain, nausea, vomiting, and melena were the most frequently reported symptoms. The average time from first symptoms to diagnosis was 3.2 months. A positive test for occult blood or hypochromic microcytic anemia was invariably present. Hyperbilirubinemia and increased alkaline phosphatase were warning signs that allowed earlier diagnosis in patients with duodenal tumors. Fifty-four percent of the lesions were detected by endoscopic examination while 46% relied on radiographic studies. Eleven had carcinomas and two malignant gastrointestinal stromal tumors. Neither carcinoids nor lymphomas were identified. Our report of thirteen cases of malignant small bowel tumors is unusual and exhibits differences with the previously reported data. The cases were identified in a limited Hispanic population in a short period of time. Aggressive evaluation and a high suspicion of these malignancies should be entertained whenever subtle symptoms and unexplained gastrointestinal blood loss are assessed.     

CASE REPORT: A case of primary ileal carcinoma in a young woman and a review of the Japanese literature

We report a case of primary ileal carcinoma in a young woman, which was diagnosed definitively before operation. A 29-year-old woman presented with abdominal pain, diarrhoea and bloody stools. Colonoscopic and radiographic studies revealed that there was a 7.5 × 7 cm tumour (well-differentiated adenocarcinoma) at the terminal ileum, forming an ulcerated lesion at the centre. The tumour had invaded the caecum, the right urinary tract, the right ovary and a portion of the sigmoid colon. Fifty-three cases of primary ileal carcinoma were reported in Japan between 1982 and 1994 and their clinical features are reviewed herein.     

Analysis of the discordance between radiographic changes and knee pain in osteoarthritis of the knee

OBJECTIVE: To analyze cross sectional data from the National Health and Nutrition Examination Survey (NHANES I) concerning 3 indicators of osteoarthritis (OA) of the knee: radiographic evidence of structural damage, self-reported knee pain, and self-report of a diagnosis of arthritis at any joint by a physician. METHODS: Analysis of NHANES I data for 6880 persons ages 25-74 in the United States. RESULTS: Radiographic stage 2-4 knee OA was found in 319 subjects (3.7%); only 47% of these individuals reported knee pain, and only 61% reported that a physician had told them that they had arthritis. Knee pain was reported by 1004 subjects (14.6%), only 15% of whom had radiographic stage 2-4 changes of OA, and 59% of whom reported having a diagnosis of arthritis by a physician. A report of arthritis diagnosed by a physician was given by 1762 subjects (25.6%), of whom only 11% had stage 2-4 radiographic knee OA and 34% reported knee pain. CONCLUSION: Substantial discordance exists in this population based study between radiographic OA of the knee versus knee pain, versus a diagnosis of arthritis by a physician. These phenomena may be important in the design of clinical research studies, as well as in criteria for OA.     

Malignant external otitis: report on therapy with ceftazidime and review of therapy and prognosis

We report the treatment of 20 patients with malignant external otitis (MEO) since 1980. Ceftazidime was used in 15 patients, with cure achieved in 11 of 12 evaluatable patients. An aminoglycoside and an antipseudomonal penicillin were used in five patients, four of whom were cured. The presentation, radiographic studies, therapy, outcome, and period of follow-up in the 20 patients are reported. The previously reported cases of MEO are also reviewed, with a focus on the changing therapy and prognosis. The frequencies of diabetes mellitus, cranial nerve deficits, and treatment failures in MEO have all declined significantly since 1985 from frequencies in earlier years. We conclude that there has been an overall improvement in the diagnosis and treatment of MEO and that monotherapy with ceftazidime shows promise against this potentially fatal pseudomonal infection.     

Intramural hemorrhage simulating gastric neoplasm

We report a case of benign gastric ulcer with secondary extensive intramural hemorrhage causing a radiographic appearance consistent with a large ulcerated gastric neoplasm. This is the second such case reported and the first studied with sonography and computed tomographic scan. A brief review of the literature on intramural gastric hematoma is presented.     

Undiagnosed lung cancer complicated by intracavitary aspergillosis]

A 54-year-old man was treated with an antifungal agent (itraconazole) for post-tuberculous intracavitary aspergillosis. Though clinical and radiological findings indicated that the patient's symptoms had gone into remission, aspergillosis recurred 4 months after the cessation of antifungal chemotherapy, requiring that the patient undergo an operation. Intraoperative and pathological findings revealed a squamous cell carcinoma contiguous to the cavity containing the aspergilloma. Though a few cases of aspergilloma within cavitating pulmonary carcinomas have been reported in the literature, the case of lung cancer we report was thought to arise from preformed lung scars surrounding a post-tuberculous cavity that contained an aspergilloma. Although conclusive distinctions between neoplasms and fungal infections are difficult to make, careful observation of the radiographic features is necessary when treating patients with fungus ball-type aspergillosis.