Abstract: OBJECTIVES: To describe an unusual case of Whipple disease (WD) with confusing clinical features at onset and to discuss the diagnostic challenges for the clinician. METHODS: Description of a new case of this rare disease and thorough discussion of the atypical clinical manifestations at onset. A literature review, concerning the unusual onset, by means of a MEDLINE search from 1966 to 2007 was done. RESULTS: A 39-year-old man with sudden bilateral blurred vision due to retinal vasculitis and concomitant rapidly evolving symmetrical neurosensory bilateral hearing loss as initial features of WD is described. Due to the clinical manifestations resembling systemic vasculitis, high-dose corticosteroid and pulse cyclophosphamide therapy were started with subsequent appearance of gastrointestinal symptoms (diarrhea and weight loss) and spiking fever, suggesting superimposed infection. After a complete evaluation, including gastroscopy, extensive duodenal-jejunal mucosal involvement was seen, while diffuse infiltration of the duodenal lamina propria with periodic acid-Schiff-positive foamy macrophages was observed on the histological sample. The diagnosis was confirmed by reverse transcriptase-polymerase chain reaction for the DNA of Tropheryma whippelii. To our knowledge, no previous similar clinical onset of WD has been described. CONCLUSIONS: To avoid misdiagnosis and therapeutic mistakes, clinicians should be aware of unusual presentations of WD. Because this etiological agent is a difficult to isolate bacterium, diagnosis may be especially problematic in cases without intestinal involvement at onset.
Abstract: There is still controversy regarding the role of circulating endothelial and progenitor cells (CECs/CEPs) in the pathogenesis of systemic sclerosis (SSc). Using a sequential Boolean gating strategy based on a 4-color flow cytometric protocol, an increased number of CD31(pos)/CD184(pos)(CXCR4)/CD34(pos)/CD45(pos) and CD31(pos)/CD117(pos) (c-kit-R) /CD34(pos)/ CD45(pos) hematopoietic circulating progenitor cells (HCPCs) was detected in SSc patients compared with healthy subjects. In SSc, no circulating mature and progenitor endothelial cells were observed, while an enhanced generation of erythroid progenitor cells was found to be correlated with the presence of CD117+ HCPCs. The presence of freshly detected CXCR4posHCPC was correlated either to the in vitro cultured spindle-shaped endothelial like cells (SELC) with an endo/myelomonocytic profile or to SDF-1 and VEGF serum level. These data are related to more fibrotic clinical features of the disease, thus supporting a possible role of these cells in fibrosis.
Abstract: OBJECTIVE: To describe the presence of Propionibacterium acnes (P. acnes) in a series of patients with SAPHO syndrome in which a bone biopsy has been carried out and to discuss the results comparing them to the data described in the literature. METHODS: In 6 out of 56 patients with SAPHO syndrome, a bone biopsy from osteitic lesion was carried out. This invasive investigation was performed only in those cases in which it was necessary to clarify the diagnosis. RESULTS: Of the 6 biopsies processed, P. acnes was isolated in only one case. No other infectious agents were identified. CONCLUSION: P. acnes is not often found in bone lesions of SAPHO syndrome. A bone biopsy may represent a procedure useful for corroborating the diagnosis or for excluding other diseases only in specific cases.
Abstract: The aim of this study was to evaluate neurological involvement in a series of 110 North Italian patients with Behçet disease (BD), a multisystemic vasculitis of unknown origin, followed up for a period of 5 years. During this time, 27 (24.5%) patients with neuro-BD were identified. Twenty out of 27 showed at least one acute attack in their clinical course. In 14 of them, a neurological evaluation was carried out during the attack. The other 13 patients were evaluated during a remission phase. The onset of neuro-BD was usually characterized by an acute attack with motor symptoms (66.6%) and behavioural/cognitive changes (47.6%), while headache was more frequent in the remission phase (76.9%). On magnetic resonance imaging, large brain-stem/diencephalon lesions were usually seen during the attack. In the remission phase, they were often located in the white-matter. Aspecific cerebrospinal fluid abnormalities were usually seen during the attacks. Cerebrospinal fluid analysis together with radiological and clinical features seems to be useful for the differential diagnosis in these patients.
Abstract: We report the occurrence of visceral leishmaniasis in three patients coming from the northern part of Italy treated with immunosuppressive drugs for different rheumatic conditions. This paper highlights the importance of adequate work-up in those patients presenting with serious clinical manifestations that can complicate, exacerbate or mimic a systemic connective tissue disorder. A prompt diagnosis is very important because visceral leishmaniasis has a high mortality and, if untreated, can be fatal.
Abstract: S.A.P.H.O. syndrome is characterized by the association, even not simultaneous, of osteoarticular and cutaneous manifestations. This review has the purpose to clear up some features of clinical manifestations and the osteo-articular involvement. Articular mainly feature is the involvement of anterior chest wall, that begins with slow evolving pain. Skin involvement is characterized by acne conglobata and pustolosis palmaris-plantaris. Instrumental investigations that fit better for studying the anterior chest wall, complex region, are bone scintigraphy, computed tomography and nuclear magnetic resonance, with their domain pattern. Symptomatic therapy are mostly represented by NSAIDs, but still opiate drugs can be prescribed; corticosteroids have variable and unforeseeable efficacy. Bisphosfonates are usually utilized due to their anti-osteoclastic effects. Finally, because of documented incremented production of TNFalpha, TNFalpha blocking agents should be effectively utilized.
Abstract: Multicentric reticulohistiocytosis (MR) is an uncommon disease with joint and cutaneous manifestations most commonly affecting women in middle age. The diagnosis must be confirmed by the histological evidence of typical mononuclear histiocytes and multinucleated giant cells. Many conditions have been described in association with MR, and the clinician should be aware that in many cases the disease is associated with malignancy. This eventuality must be accurately ruled out. If the typical nodular manifestations are missing at the onset, the arthritic complaints-usually localized but not confined to the interphalangeal joints-may be confused with those of more common rheumatic disorders. At this stage, a careful clinical and radiological evaluation may offer the key to the correct diagnosis. The natural course of the disease may develop into a severe, destructive arthropathy and disfiguring cutaneous lesions. In these cases an aggressive treatment with immunosuppressive drugs is strongly recommended. On the basis of recent reports, anti-tumor necrosis factor alpha agents and alendronate may also be added to the list of the drugs used in the treatment of this disease.
Abstract: BACKGROUND: Multicentric reticulohistiocytosis (MRH) is a rare systemic disease, presenting with typical skin abnormalities and erosive polyarthritis, which is often associated with malignancy. CASE REPORT: A case of MRH arthropathy, in which the typical nodular skin manifestation of the disease was absent, is described in a patient with a past history of breast cancer and no evidence of recurrent or new malignancy. RESULTS: Careful clinical and roentgenological evaluation disclosed important clues to differentiate this condition from other more common distal interphalangeal arthritides--namely, osteoarthritis and its "erosive" variant, rheumatoid arthritis, psoriatic arthritis, tophaceous gout, dialysis related hand arthropathy, and from the rarer fibroblastic rheumatism, all of which can be mimicked by MRH. Histopathology showed the characteristic histiocytic and multinucleated giant cell infiltrate with ground glass cytoplasm, and immunohistochemical analysis showed markers evocative of a monocyte/macrophage origin of MRH.
Abstract: Anterior chest wall involvement is not infrequently observed within inflammatory arthropaties, particularly if one considers seronegative spondyloarthritides and SAPHO syndrome. Physical examination is unreliable and conventional X-rays analysis is an unsatisfactory tool during diagnostic work-up of this region. Scintigraphic techniques yield informations both on the activity and on the anatomical extent of the disease while computerized tomography visualize the elementary lesions, such as erosions, which characterize the process. Moreover, when available, magnetic resonance imaging couple the ability to finely visualize such lesions with the possibility to show early alterations and to characterize the "activity" of the disease, presenting itself as a powerful tool both for diagnosis and follow-up. This review briefly shows the applications of imaging techniques for the evaluation of the anterior chest wall focusing on what has been done in the SAPHO syndrome which can be considered prototypical for this regional involvement since it is the osteo-articular target mainly affected by the disease.
Abstract: Sjögren's syndrome (SS) is a cell-mediated immune disorder primarily affecting the exocrine glands and hearing loss may be the first otological manifestation of this autoimmune disease. In order to assess the degree of sensorineural hearing loss in SS, 22 female patients were examined by means of standard audiometric tests (pure-tone audiometry, acoustic reflexes and impedance testing) and using distortion product otoacoustic emissions (DPOAEs). The results indicated that only 36.3% of the patients had mild sensorineural hearing loss. Hearing level and distortion product threshold estimates were found to be significantly correlated. No relationship was found between the duration of the disease and the DPOAE and hearing threshold variables. The data suggest that SS may not directly cause sensorineural hearing loss.
Abstract: Systemic Sclerosis (SSc) is a systemic disease of unknown etiology presenting with disseminated skin thickening and fibrotic impairment of various organs including lung and kidney. According to the rate and degree of skin involvement, SSc can be classified in a limited and a diffuse form, the latter showing a severe and progressive lung involvement, which is responsible for its high related morbidity and mortality along with resistance to standard therapeutic protocols. High dose chemotherapy, followed by autologous stem cell transplantation, is a standard therapeutic regimen for haematological diseases: re-infusion of mobilised peripheral blood progenitor cells overcomes the myeloablative effect of super-maximal eradicative doses of chemotherapeutic agents. Recently, this therapeutic approach has been applied in some cases of resistant SSc and, albeit the low number of cases, it has been proven effective in early diagnosed and rapidly progressive forms of the disease showing a clinical improvement and an instrumentally detectable decrease of fibrosis extent. We report the case of a young woman affected by diffuse SSc with a rapid progression of clinical signs and instrumentally detectable lesions who underwent a conditioning regimen with fludarabine, cyclophosphamide and anti-thymoglobulines followed by re-infusion of autologous peripheral blood stem cells. Two years after transplantation a clinical and instrumental evidence of treatment was observed, with good control of disease evolution. The only sign of disease resumption was a slow worsening of skin involvement.
