Retroperitoneal fibrosis - a report of five cases.
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ABSTRACT:
SUBMITTER: Runowska M
PROVIDER: S-EPMC5534509 | biostudies-other | 2017
REPOSITORIES: biostudies-other
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Project description:Retroperitoneal fibrosis (RPF) is an uncommon condition characterized by inflammation and fibrosis in the retroperitoneal space. More than two-thirds of RPF are idiopathic, with the remaining stemed from a variety of secondary causes. It was suggested that IgG4-related RPF is a secondary form of RPF. We undertook this study to compare detailed demographic, clinical and laboratory characteristics of IgG4-related RPF and IRPF in a large Chinese cohort. We retrospectively reviewed the medical records of 132 RPF patients diagnosed at Peking University People's Hospital between March 2010 and March 2018. Among the 132 patients, the mean age at disease onset was 54.8 years. IgG4-related RPF group showed greater male predominance compared to IRPF group. IgG4-related RPF patients showed a longer interval between symptom onset and diagnosis, and allergic diseases were more common in this group. Sixty-four patients (48.4%) had lower back pain, which was more common in IRPF group than that in IgG4-related RPF patients. In terms of organ involvement, although 42 of 47 patients (89.3%) with IgG4-related RPF had other organ involvement, there were no patients in the IRPF group with other organ involvement. In addition, the serum IgG4 level, elevated eosinophils counts and IgE level were significantly higher in IgG4-related RPF patients. We described the demographic, clinical and laboratory differences between IgG4-related RPF and IRPF patients, indicating their potential differences in pathogenesis, which was of great importance to diagnose and manage the two phenotypes.
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Project description:Retroperitoneal fibrosis (RPF) is a very rare disease that is even more rare in the pediatric population. Even less common are idiopathic pediatric cases of retroperitoneal fibrosis, with a majority of reported pediatric retroperitoneal fibrosis cases being associated with secondary etiologies. We present an 11-year-old Caucasian female that was diagnosed with idiopathic retroperitoneal fibrosis using magnetic resonance imaging (MRI) to work-up severe bilateral hydronephrosis that was identified with retroperitoneal ultrasound. Given the uncommon nature of this serious condition, we present this case to illustrate the importance for physicians to include retroperitoneal fibrosis in the differential diagnosis of a pediatric patient presenting with obstructive urinary findings and understand the utility of using MRI to diagnosis and monitor this disease.
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Project description:Metastatic retroperitoneal tumors constitute an end-stage disease with poor prognosis that represents a heavy global health burden. The present study aimed to explore the efficacy of irreversible electroporation ablation (IRE) therapy in patients with end-stage retroperitoneal tumors. Between April 2016 and September 2017, three patients with unresectable retroperitoneal malignant tumors were enrolled. Among these cases, ultrasound (US)-guided IRE was palliatively performed for targeting 3 tumors (1 tumor per patient) located around the abdominal aorta. Post-treatment contrast-enhanced US (CEUS) and contrast-enhanced computed tomography (CECT) scans were subsequently performed to evaluate the area adjacent to the ablation zone and determine the prognosis. During the follow-up, the cases experienced a reduction of pain (mean score of 5.8 decreased to 2.2, based on the visual analogue scale), and had an overall survival rate ranging from 2 to 11 months. Case 1 remained alive at the time of submission of this study, but case 2 died within 2 months and case 3 within 11 months due to liver metastases of the primary tumor. At the 3-week follow-up, the CEUS image for case 1 exhibited a contrast defect with a sufficient ablation margin, in accordance with the CECT at 1.5 months following IRE, exhibiting complete tumor necrosis without contrast enhancement. Overall, these results suggest that US-guided percutaneous IRE may be effective in the treatment of end-stage retroperitoneal tumors. However, further studies are required to substantiate the conclusions of the present study. The present clinical trial was registered at clinicaltrials.gov (ID: NCT02822066) on June 20th, 2016.
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Project description:BACKGROUND:Cutis tricolor is a skin abnormality consisting in a combination of congenital hyper- and hypopigmented skin lesions (in the form of paired macules, patches or streaks) in close proximity to each other in a background of normal skin. It is currently regarded as a twin-spotting (mosaic) phenomenon and today is clear that not all cases of cutis tricolor represent one single entity. This phenomenon has been reported so far either: (I) as an purely cutaneous trait; (II) as a part of a complex malformation phenotype (Ruggieri-Happle syndrome, RHS) including distinct facial features, eye (cataract), skeletal (skull and vertebral defects, and long bones dysplasia), nervous system (corpus callosum, cerebellar and white matter anomalies, cavum vergae and holoprosencephaly) and systemic abnormalities; (III) as a distinct type with multiple, disseminated smaller skin macules (cutis tricolor parvimaculata); and (IV) in association with other skin disturbances [e.g., cutis marmorata telangectasica congenita (phacomatosis achromico-melano-marmorata)] or in the context of other skin (e.g., ataxia-telangiectasia and phacomatosis pigmentovascularis, PPV) or complex malformation phenotypes (e.g., microcephaly and dwarfism). METHODS:(I) Review of the existing literature; and (II) information on our personal experience (clinical, laboratory and imaging data) on new cases with cutis tricolor seen and followed-up at our institutions during years 2010-2016. RESULTS:The existing literature revealed 19 previous studies (35 cases) with pure cutaneous or syndromic cutis tricolor phenomena. Our personal experience included 5 unpublished patients (3 boys; 2 girls; currently aged 2 to 14 years) seen and followed-up at our Institutions in Italy who had: (I) skin manifestations of the cutis tricolor type (N=5); (II) skeletal abnormalities including small skull (n=2), obtuse angle of mandible (n=3), mild to moderate scoliosis (n=3), vertebral defects (n=3), and long bones bowing (n=3); mild psychomotor delay (n=3); epilepsy (n=2); anomalies of the corpus callosum (n=3); and cavum vergae (n =2). CONCLUSIONS:This study further confirms and expands the overall phenotype of cutis tricolor. By literature review and personal experience we conclude that the skin abnormalities of the cutis tricolor type are stable over time; the skeletal defects are mild to moderate and do not progress or cause relevant orthopaedic complications; the neurological/behavioural phenotype does not progress and the paroxysmal events (when present) tend to decrease over time; there is a typical facial phenotype in some patients (long, elongated face, thick and brushy eyebrows, hypertelorism, deep nasal bridge with large bulbous nose and anteverted nostrils), which characterizes a somewhat distinct syndromic phenotype; some patients may develop early onset cataracts. The allelic dydymotic hypothesis of post-zygotic mutations likely involving the same gene loci could well explain the overall skin, bone, lens and nervous system phenomena of migration of different streaks of clones in the different tissues.
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Project description:The present study reported on the histomorphological observations and immunohistochemical features of five cases of gastric inflammatory myofibroblastic tumor (IMT). Loosely arranged fat fusiform myofibroblast-fibroblasts and diffusely or patchily distributed inflammatory cells, which formed a diverse morphological structure, were observed. In the mucous vascular structure, mucoid or collagenous areas, fibromatosis- or scar-like lesions were generally <10 mm in size and both had diffuse or patchy plasma cells, lymphocytes and other inflammatory-cell infiltration backgrounds. The immunophenotype was vimentin- and smooth muscle actin-positive with pan-cytokeratin, desmin and calponin expression and CD34-positive foci; furthermore, three cases were positive for anaplastic lymphoma kinase expression. Gastric IMT is rare, with unique histopathological changes and corrosion-like invasion of the smooth muscle of the stomach wall, blood vessels, nerves and adipose tissue. It should be differentiated from a variety of spindle cell tumor types and tumor-like lesions.
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Project description:IntroductionSchwannomas are tumors that arise from Schwann cells of the peripheral nerve sheath and rarely occur in the retroperitoneum (3% of all schwannomas). Patients are usually asymptomatic or have nonspecific symptoms, making accurate preoperative diagnosis difficult. Schwannomas are usually benign, but infrequently undergo malignant transformation. Herein, we report a case of retroperitoneal schwannoma and review the relevant literature.Presentation of caseA 25-year-old woman presented to our department with a 2-year history of abdominal pain that was localized in the right flank without radiation, constipation/diarrhea or externalized digestive hemorrhage. On physical examination, we found a painless palpable mass in the right hypochondrium extending to the right iliac fossa, measuring approximately 10 cm. The MRI and CT scan showed the presence of a large intra-abdominal oval formation in the right para-umbilical region. It was well limited, measuring 110*69mm with discrete irregular contours, thickened wall and heterogeneous content mostly fluid. They also showed the presence of a cystic formation in the right ovary measuring 84*52mm and extending over 76mm. The procedure consisted of resection of the retroperitoneal solid cystic mass, right ovariectomy and drainage of the right parietal-colic gutter by Salem sump tube. A laparotomy with a median incision above and below the umbilicus was performed. After the resection, the specimens were sent for anatomopathological examination which concluded that the retroperitoneal mass was a schwannoma and the ovarian mass was a serous cystadenoma.DiscussionRetroperitoneal schwannomas are rare tumors and a pre-operative diagnosis is often difficult. The diagnosis is most often fortuitous and late, given the latency of the tumor's evolution, and the definitive diagnosis is based on histopathologic examination. Herein we presented a case of retroperitoneal schwannoma and studied the features of this phenomenon on the basis of the literature.ConclusionRetroperitoneal schwannomas are rare. The diagnosis is often late at the stage of a large tumor. Radiologic findings are usually nondiagnostic. The treatment of choice is complete surgical excision. Prognosis is good but because of the risk of recurrence and malignant transformation, further follow-up is necessary.
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Project description:Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease.
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