[Specificity of sarcomatous transformation in Recklinghaussen disease: a report of two cases and review of the literature].
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SUBMITTER: Bourhafour M
PROVIDER: S-EPMC3810010 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
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[Specificity of sarcomatous transformation in Recklinghaussen disease: a report of two cases and review of the literature].
Bourhafour Mouna M Bourhafour Imane I El Youbi Meryam Ben Ameur MB M'Rabti Hind H Benjaafar Nourredine N Errihani Hassan H
The Pan African medical journal 20130625
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Project description:Introduction and importanceReports of enterosalpingeal fistulae complicating Crohn's disease are scarce. They involve the last ileal loop and lead to a progressive destruction of the salpinx. Usually, no genital symptoms are found. In all the cases reported in the literature, the fistula was diagnosed intra-operatively and resection of the right salpinx was performed without the patient's pre-operative consent.Case presentationWe describe 2 cases of women presenting with an Enterosalpingeal fistulae complicating Crohn's disease. Radiological findings allowed a pre-operative diagnosis. Thus, the patients were warned of the right salpinx resection and consent was obtained.Clinical discussionEnterosalpingeal fistulae complicating Crohn's disease are exceptional. Indeed, to the best of our knowledge, only five cases have been reported till now. In all the reported cases, no genital signs were present. As for our patients who didn't experience such symptoms. Moreover, no radiological evidence of the enterosalpingeal fistula was found in the literature. Consequently, the fistula was always diagnosed intra-operatively. For our patients, radiological findings allowed a pre-operative diagnosis. This permitted to warn them of a possible resection of the fallopian tube. Intra-operative findings were unfortunately conflicting with its preservation.ConclusionEnterosalpingeal fistula is an exceptional complication of the Crohn's disease. No clinical findings are present. The diagnosis should be evoked when the CT-scan or the MRI show an abnormal apposition between the fallopian tube, the last loop and the cecum. Surgical resection of the involved salpinx with the diseased intestinal segment is unfortunately usually needed in a young patient population.
| S-EPMC8384770 | biostudies-literature
Project description:Background & Aims Primary hepatic neuroendocrine tumors (PHNETs) are rare malignant liver tumors that present diagnostic challenges owing to their rarity and absence of specific clinical features. This study aimed to investigate the characteristics of this rare liver tumor to enhance our understanding of the disease, improve diagnostic accuracy, and explore standardized diagnostic and treatment approaches. Case description During physical examination, two elderly women, aged 64 and 74 years, were found to have liver masses. 18F-FDG Positron Emission Tomography-Computed Tomography (18F-FDG PET-CT) and Ga68-DOTATATE PET-CT scans of both individuals revealed multiple liver masses that were initially suspected to be hepatic neuroendocrine tumors. Subsequent puncture pathology confirmed the diagnosis of neuroendocrine tumors. Furthermore, in Case 1, the tumor was also detected by 18F-FDG PET-CT in the lung, suggesting a metastatic tumor, in conjunction with liver immunohistochemistry and imaging findings. Laboratory tests revealed no significant abnormalities in liver function or autoimmune liver disease indicators, and there was no evidence of viral hepatitis infection. However, partial hepatectomy was not indicated for cases with distant metastasis or multiple space-occupying lesions. Individualized treatment approaches have been developed for such situations. A large portion of the tumor underwent Transarterial Embolization (TAE), and targeted combination chemotherapy or endocrine therapy was administered based on the pathological results. During regular follow-ups a 13 and 12 months, the tumor remained stable. The patients’ quality of life was good, and their psychological well-being was healthy. They led active lifestyles, demonstrated a thorough understanding of their disease and its progression, and actively cooperated during the follow-up process. Conclusion Our findings suggest that a combination of serological, radiological, and immunohistochemical examinations can aid in the diagnosis of PHNET. In addition, we determined that TAE combined with drug therapy could be an effective method for controlling PHNET progression. Regular postoperative follow-ups are important for monitoring the prognosis and tumor progression status of patients with PHNET.
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Project description:Introduction: Darier disease (DD) is a chronic disease with high morbidity and limited treatment options. Laser efficacy in the treatment of DD remains understudied. Methods: A literature search conducted between 07/21/2017 and 05/05/2018 identified all original cases of DD treated with laser therapy. Results: Outcomes from 24 patients were reviewed, 22 patients were identified in the literature and 2 cases are included from our institution. Five types of lasers were identified [CO2 laser, Er:YAG laser, pulse dye laser [PDL], diode laser, erbium-doped fiber laser], with CO2 (46%) and PDL (42%) being the most common. Seventy-nine percent of patients were treated with more than one procedure (average, 3 procedures). The estimated body surface treated with each session ranged from 5%-50%. The most common adverse events came from CO2 and Er:YAG lasers and included dyspigmentation, pain, and post-laser erythema and edema. The time to response (mode, 1 month) was only reported in half of the studies. Conclusion: Laser treatments appear to be a promising alternative to standardized therapies in DD.
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Project description:Sarcomatous carcinomas (SCs) are rare tumours that contain malignant cells with epithelial and mesenchymal characteristics. SC rarely presents in the head and neck, and occurs even less often in the orbit. Only 8 cases of SCs located in the orbit or affecting the globe function have been described in the English literature. Here, we report a case of SC affecting the right orbit. SC is associated with a poor prognosis and advanced disease at presentation. Diagnosis is difficult, as histology often fails to definitively identify SC, necessitating a wide panel of molecular/immunological markers. Treatment options are generally aggressive but risky, and frequently yield poor results. Due to the rarity of SC, there has been little focus on the development of improved treatment options.
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Project description:BackgroundMycetoma is a chronic granulomatous infection involving cutaneous and subcutaneous tissues. It is endemic in tropical and subtropical areas, but sporadic cases have been reported also in countries of temperate climate. The purpose of this paper is to review the cases of mycetoma in European subjects (and presumably acquired in Europe), to give an insight in the main factors associated with this condition, and to describe two previously unpublished cases observed at our Centre.Methods and findingsPubMed was systematically searched for case reports and case series of mycetoma in Europeans reported between 1980 and 2014, using specific search strategies. Two further cases diagnosed by the authors are described. Forty-two cases were collected. Eleven cases were caused by Scedosporium apiospermium, mainly in immunosuppressed patients from Bulgaria, Germany, the Netherlands, Portugal, Slovenia, Spain and the United Kingdom. Excluding all patients with immunosuppression, 29 cases remain. Most of them were reported from Bulgaria and in Albanian patients (all diagnosed outside Albania). In the Bulgarian case series many different micro-organisms, both bacteria and fungi, were isolated, while all the 5 cases from Albania were caused by Actinomadura spp. Other countries reporting cases were Greece, Italy and Turkey. In general, Actinomadura spp is the most frequent causative agent isolated, followed by Nocardia spp and Madurella mycetomatis. The foot was the most reported site involved. Most patients were medically treated, but unfortunately a long-term follow up (at least one year) was available only in a few cases.ConclusionsOur review and our own cases suggest that Europeans without travel history can be affected by Madura foot. The lack of a surveillance system is likely to cause an underreporting of cases. Moreover, the unfamiliarity of Western doctors with this peculiar infection may cause a mismanagement, including unnecessary amputations.
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Project description:BackgroundPrimary hepatic neuroendocrine carcinoma (PHNEC) is extremely rare. The diagnosis of PHNEC remains challenging-partly due to its rarity, and partly due to its lack of unique clinical features. Available treatment options for PHNEC include surgical resection of the liver tumor(s), radiotherapy, liver transplant, transcatheter arterial chemoembolization (TACE), and administration of somatostatin analogues.Case presentationWe report two male PHNEC cases and discuss the diagnosis and treatment options. Both cases presented with abdominal pain; case two also presented with symptoms of jaundice. The initial diagnosis for both cases was poorly differentiated grade 3 small-cell neuroendocrine carcinoma, based on imaging characteristics and the pathology of liver biopsies. Final diagnoses of PHNEC were arrived at by ruling out non-hepatic origins. Case one presented with a large tumor in the right liver lobe, and the patient was treated with TACE. Case two presented with tumors in both liver lobes, invasions into the left branch of hepatic portal vein, and metastasis in the hepatic hilar lymph node. This patient was ineligible for TACE and was allergic to the somatostatin analogue octreotide. This limited treatment options to supportive therapies such as albumin supplementation for liver protection. Patient one and two died at 61 and 109 days, respectively, following initial hospital admission.ConclusionsWe diagnosed both cases with poorly differentiated grade 3 small-cell PHNEC through imaging characteristics, immunohistochemical staining of liver biopsies, and examinations to eliminate non-hepatic origins. Neither TACE nor liver protection appeared to significantly extend survival time of the two patients, suggesting these treatments may be inadequate to improve survival of patients with poorly differentiated grade 3 small-cell PHNEC. The prognosis of poorly differentiated grade 3 small-cell PHNEC is poor due to limited and ineffective treatment options.
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Project description:Thiamine pyrophosphokinase (TPK) deficiency, is a rare autosomal recessive disorder of congenital metabolic dysfunction caused by variants in the TPK1 gene. TPK1 variants can lead to thiamine metabolic pathway obstacles, and its clinical manifestations are highly variable. We describe two cases of TPK deficiency with completely different phenotypes and different therapeutic effects, and 26 cases of previously reported were retrospectively reviewed to improve our understanding of the clinical and genetic features of the disease. Patients with TPK deficiency present with ataxia, dysarthria, dystonia, disturbance of consciousness, seizures, and other nervous system dysfunction. Different gene variant sites may lead to different clinical features and therapeutic effects. Gene analysis is important for the diagnosis of TPK deficiency caused by TPK1 variants, and thiamine supplementation has been the mainstay of treatment for TPK deficiency to date.
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Project description:Sarcoidosis is a multi-systemic disease of unknown etiology that is characterized by the formation of non-necrotizing and non-caseating granulomas in affected organs. Sarcoidosis granulomas can form in any organ, but the lungs and intrathoracic lymph nodes are the most commonly affected. Thyroid involvement in sarcoidosis is very rare, with prevalence estimates of 1-4.5% in case series of autopsied patients with systemic sarcoidosis. It is extremely rare for sarcoidosis to occur solely in the thyroid gland, but it is usually associated with the involvement of other organs, primarily the lungs and lymph nodes. Typical manifestations are diffuse goiter and solitary or multiple thyroid nodules. Thyroid function remains intact in the majority of cases, but sometimes it can result in hypothyroidism or hyperthyroidism. The diagnosis can be made after fine needle aspiration cytology, but usually it is diagnosed as an incidental finding while analyzing thyroidectomy tissue or during autopsy. Oral steroids are the cornerstone of thyroid sarcoidosis management, along with specific endocrinological treatment on some occasions. Given that we found only 71 reports of thyroid sarcoidosis available in the literature, we created and analyzed a cohort of 24 patients with thyroid sarcoidosis who were described in the literature in the 21st century and reported two additional cases of thyroid sarcoidosis.
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Project description:BackgroundHemivertebra deformity, involving one or multiple vertebral bodies, is one of the important causes of congenital scoliosis. Congenital fetal hemivertebrae could be diagnosed by ultrasonography and confirmed by fetal magnetic resonance imaging during pregnancy. However, reports of hemivertebrae in twins during the perinatal period are very rare.Case presentationWe report two cases of congenital fetal hemivertebrae, each affecting one fetus in a dichorionic diamniotic (DCDA) twin pregnancy. We have also conducted a literature review of its prenatal screening, diagnosis, management, and outcomes. These two cases of congenital fetal hemivertebrae in one fetus of a DCDA twin were both initially found by ultrasonography and confirmed by fetal magnetic resonance imaging (MRI). One couple chose selective termination of the hemivertebrae fetus after they were extensively counseled by the multidisciplinary team regarding the treatment and prognosis of the hemivertebrae twin, and a healthy baby weighing 2320 g was delivered at the 37+ 1 gestational week. The other couple decided to continue the twin pregnancy and gave birth to two living newborns weighing 2580 g and 2060 g at 37+ 1 gestational weeks. These three babies were all in good health during follow-up.ConclusionsBased on our center's experience, comprehensive ultrasonography is necessary for early prenatal diagnosis of this condition. In addition, fetal MRI will confirm the diagnosis of hemivertebrae and provide parents with helpful information for their decision about the fate of the affected fetus.
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Project description:IntroductionLeiomyosarcoma (LMS) of the prostate is an extremely rare and aggressive tumor that presents with nonspecific signs and symptoms. Treatment guidelines are not yet established.Case presentationWe report two cases of LMS of the prostate. The presenting symptom was hematuria, and diagnosis was ascertained through a transurethral resection of the prostate for the 2 patients. The treatment course consisted of three courses of chemotherapy with gemcitabine and docetaxel, radical prostatectomy, and postoperative radiation therapy for the first patient and three courses of gemcitabine and radiation therapy of the prostate and the whole pelvis for the second patient. The follow-up of our 2 patients was 9 and 12 months, respectively. Recurrence occurred 10 months after treatment completion for the second case. No recurrence was noticed in the first case.ConclusionThese two cases highlight the importance of a multimodal approach to yield the best outcomes.
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