scholarly journals Ollier disease: multiple enchondromatosis: case report and review of literature

2021 ◽  
Vol 9 (6) ◽  
pp. 1770
Author(s):  
Hirosi Sashida Mendez ◽  
Maria de los Angeles Mendoza Velez ◽  
Luisa Hurtado Diaz ◽  
Jorge Rojas Ortiz ◽  
Edgardo Araiza Gomez
Keyword(s):  
Case Report ◽  
Rare Disease ◽  
World Literature ◽  
Clinical Manifestations ◽  
Review Of Literature ◽  
Left Hand ◽  
Multiple Enchondromatosis ◽  
Cartilage Tumors ◽  
Ollier Disease ◽  
Surgery Department

Multiple enchondromatosis is a rare disease in which cartilage tumors appear at the level of the skeleton. The incidence is unknown due to the very few cases reported in world literature. We presented the case of a patient at the plastic surgery department at General hospital Dr. Ruben Leñero, otherwise healthy, referring first clinical manifestations at childhood with an increase in volume and deformity at the second and third fingers of the left hand.

scholarly journals An Uncommon Presentation of Myasthenia Gravis with Thymoma - A Case Report and Review of Literature

1970 ◽  
Vol 13 (1) ◽  
pp. 109-114
Author(s):  
MA Hannan ◽  
Mohammad Sayeed Hassan ◽  
Ayesha Begum ◽  
AKM Nurul Kabir
Keyword(s):  
Case Report ◽  
Neuromuscular Junction ◽  
Myasthenia Gravis ◽  
Diurnal Variation ◽  
Rare Disease ◽  
Liquid Food ◽  
Review Of Literature ◽  
Upper Arm ◽  
Uncommon Presentation ◽  
Incorrect Diagnosis

Myasthenia Gravis (MG) is a rare disease of neuromuscular junction which typically presents with fatigable weakness of cranial and limb muscles. But patient may present with vague symptoms which may mislead physicians to an incorrect diagnosis. We are reporting a 45 year old cobbler presented with the complaints of lack of energy, aching pain in shoulder, back, upper arm and difficulty in swallowing of both solid and liquid food without any diurnal variation for two and half years. He was ultimately diagnosed as a case of MG and thymectomy revealed thymoma. DOI: http://dx.doi.org/10.3329/jom.v13i1.10087 JOM 2012; 13(1): 109-114

scholarly journals Hemorrhagic thrombocytopathy with defective signal transduction CalDAG-GEFI

2021 ◽  
Vol 20 (3) ◽  
pp. 126-131
Author(s):  
A. O. Koposova ◽  
D. V. Fedorova ◽  
A. V. Pshonkin ◽  
A. V. Poletaev ◽  
E. A. Seregina ◽  
...  
Keyword(s):  
Signal Transduction ◽  
Case Report ◽  
Rare Disease ◽  
Clinical Case ◽  
Clinical Manifestations ◽  
The World ◽  
The Moment

Hemorrhagic thrombocytopathy with defective signal transduction CalDAG-GEFI is a rare disease associated with a mutation in the RASGRP2 gene. At the moment, this disease is described in 10 person in the world. We present clinical case report of this pathology of a 9-year-old child. We also offer a review of the available literature about pathogenetic features, clinical manifestations and prevalence of this rare disease. The patient’s parents gave their consent to the use of their child’s data, including photographs, for research purposes and in publications.

scholarly journals Keratosis Lichenoides Chronica – a Case Report and Literature Review

2014 ◽  
Vol 6 (3) ◽  
pp. 120-137
Author(s):  
Mirjana Paravina ◽  
Predrag Cvetanović ◽  
Miloš Kostov ◽  
Slađana Živković ◽  
Ivana Dimovski ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Literature Review ◽  
Rare Disease ◽  
Clinical Picture ◽  
Treatment Options ◽  
Clinical Manifestations ◽  
Poor Response ◽  
Unknown Etiology ◽  
Distinct Entity

Abstract Keratosis lichenoides chronica represents a distinct entity, a rare disease of unknown etiology and pathogenesis, with clinical manifestations which, although typical, require extensive differential diagnosis. The course of the disease is chronic, progressive, and it is resistant to various treatment options, so despite variations in the clinical picture it is really easier to diagnose than to treat. This is a case report of a male patient in whom the diagnosis of keratosis lichenoides chronica was based on typical clinical picture, repeated biopsies and histopathological findings, course of the disease and poor response to any therapy.

scholarly journals Letterer Siwe Disease (LSD): A Case Report

2018 ◽  
Vol 13 (3) ◽  
pp. 207
Author(s):  
Suad H H ◽  
Mona Mohamed Elamin ◽  
Gad Allah Modawe ◽  
Khalid AbdElmohsin Awad Elseed
Keyword(s):  
Dendritic Cells ◽  
Case Report ◽  
Rare Disease ◽  
Langerhans Cell Histiocytosis ◽  
Clinical Manifestations ◽  
Langerhans Cell ◽  
The Body ◽  
System Disease

 Background: Letterer Siwe Disease (LSD) is one of variants of langerhans cell histiocytosis (LCH) which is considered as a rare disease that affects many systems in the body, it is characterized by monoclonal migration and proliferation of specific dendritic cells. The disease affects the bones and skin primarily, but can involve other organs as well or appear as a multi-system disease leading to different clinical manifestations and eventually death.

scholarly journals Congenital Bronchobiliary Fistula: A Case Report and Literature Review

2021 ◽  
Vol 9 ◽  
Author(s):  
Zhen Bing ◽  
Rui Chen ◽  
Pengchao Xing ◽  
Yueyi Ren ◽  
Kefeng Hou
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Rare Disease ◽  
Thoracoscopic Surgery ◽  
Clinical Manifestations ◽  
Fiberoptic Bronchoscope ◽  
Bronchobiliary Fistula ◽  
Endobronchial Blocker

Congenital bronchobiliary fistula (CBBF) is a rare disease. Children with CBBF mostly have atypical clinical manifestations that can be easily missed. We report a case of a child with CBBF who was diagnosed with fistulography with the help of an endobronchial blocker and a fiberoptic bronchoscope. The CBBF was successfully removed by thoracoscopic surgery.

scholarly journals Xanthogranulomatous salpingo-oophoritis: a case report and review of literature

2020 ◽  
Vol 9 (10) ◽  
pp. 4316
Author(s):  
Keval A. Patel ◽  
Kinalee P. Chothani ◽  
Bimal Patel ◽  
Dhaneshwar N. Lanjewar
Keyword(s):  
Case Report ◽  
Rare Disease ◽  
Plasma Cells ◽  
Giant Cells ◽  
Ovarian Tumour ◽  
Multinucleated Giant Cells ◽  
Review Of Literature ◽  
Xanthogranulomatous Inflammation ◽  
Extensive Surgery

Xanthogranulomatous inflammation of ovary is a rare disease that is characterized by presence of large number of lipid laden macrophages with an admixture of neutrophils, lymphocytes, plasma cells and multinucleated giant cells. It is misdiagnosed as ovarian tumour that leads to extensive surgery including hysterectomy. In this report we describe a case of Xanthogranulomatous salpingo-oophoritis along with review of literature.

scholarly journals Cherubism: Case Report and Review of Literature

2021 ◽  
Vol 21 (1) ◽  
pp. 44-54
Author(s):  
Sabah Nuri Mizel ◽  
◽  
Ali F Al-Zubaidee
Keyword(s):  
Case Report ◽  
Giant Cell ◽  
Autosomal Dominant ◽  
Clinical Manifestations ◽  
Review Of Literature ◽  
Osseous Lesion ◽  
Lower Extent

Cherubism is an autosomal dominant, very rare benign fibro-osseous lesion, with an estimation of only 300 cases have been reported worldwide. Cherubism is characterized clinically by bilateral symmetrical self-limiting jaw enlargement starts in the childhood or early teens.Mandible is mostly affected although maxilla and zygomatic bones may be involved but to a lower extent), and is associated with tooth displacement and severe malocclusion. Histopathologically, it is indistinguishable from giant cell lesions therefore the clinical manifestations of the disease remain the Gold Stone. Keywords: Cherubism, mandible, maxilla, bilateral palatal swelling

scholarly journals Minimally invasive endoscopic treatment of gastric leiomyosarcoma: A rare case report and review of literature

2021 ◽  
Author(s):  
guixiang kong ◽  
xiaolu Su ◽  
xiaojun Huang
Keyword(s):  
Case Report ◽  
Minimally Invasive ◽  
Endoscopic Treatment ◽  
Rare Case ◽  
Early Stage ◽  
Clinical Manifestations ◽  
Review Of Literature ◽  
Good Tolerance ◽  
Rare Case Report ◽  
Gastric Leiomyosarcoma

Abstract Gastrointestinal leiomyosarcoma remains relatively rare,accounting for only 1% of gastric tumors,since the use of c-kit staining was first described in 1998 to differentiate gastrointestinal stromal tumors.In this case report,we described the clinical manifestations,endoscopic features, and pathological immunohistochemical features of the gastric leiomyosarcoma.We found that endoscopic ultrasonography has great value in the diagnosis of gastric leiomyosarcoma,and that minimally invasive endoscopic treatment is safe and effective.Particularly,this case highlights that the early-stage lesions can be treated with minimally invasive endoscopic treatment with good tolerance and satisfactory clinical results.Endoscopic submucosal dissection is thus effective for treating gastric leiomyosarcoma,with promising prospects for clinical application.

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