scholarly journals A Case Report of X-Linked Hyperimmunoglobulin M Syndrome with Lipoma Arborescens of Knees

2016 ◽  
Vol 2016 ◽  
pp. 1-4
Author(s):  
Qiuting Dong ◽  
Jinxia Zhao ◽  
Zhongqiang Yao ◽  
Xiangyuan Liu ◽  
Huiying He
Keyword(s):  
Case Report ◽  
Autoimmune Diseases ◽  
Primary Immunodeficiency ◽  
Male Patient ◽  
Benign Tumor ◽  
Primary Immunodeficiency Disease ◽  
Deletion Mutation ◽  
Lipoma Arborescens ◽  
Rare Benign Tumor ◽  
Immunodeficiency Disease

The X-linked hyperimmunoglobulin M syndrome (HIGM), caused by mutations in the CD40LG gene, is a kind of primary immunodeficiency disease (PID). Patients with X-linked HIGM are susceptible to infection as well as autoimmune diseases. Lipoma arborescens (LA) is a rare benign tumor, of which the pathogenesis mechanism has not been clearly understood. We report a case of HIGM combined with LA in a 22-year-old male patient. A new deletion mutation of CD40LG gene was detected in this case. The possible relationship between HIGM and LA was also discussed.

An Invasive Hemolymphangioma of the Pancreas in a Young Woman

2019 ◽  
Vol 21 (10) ◽  
pp. 798-800 ◽  
Author(s):  
Zhijun Zhang ◽  
Qinghong Ke ◽  
Weiliang Xia ◽  
Xiuming Zhang ◽  
Yan Shen ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Case Report ◽  
Young Woman ◽  
Benign Tumor ◽  
Abdominal Distension ◽  
Accurate Diagnosis ◽  
Cystic Tumor ◽  
Rare Benign Tumor ◽  
Radical Surgical Resection

Background: Hemolymphangioma is a rare benign tumor. To the best of our knowledge, there were only 10 reports of this tumor of the pancreas until March 2018. Case Report: Here, we reported a large invasive hemolymphangioma of the pancreas in a young woman with a complaint of abdominal distension and an epigastric mass about 3 weeks. She was found to have a huge multilocular cystic tumor at the neck and body of pancreas on computed tomography. She was eventually diagnosed with hemolymphangioma of the pancreas after operation. After 2 years of follow-up, there was no signs of recurrence. Conclusion: From our case and literature, we can conclude that hemolymphangioma of the pancreas is uncommon benign tumor, and it is hard to make an accurate diagnosis preoperatively. Radical surgical resection should be performed whenever possible. The prognosis of this disease seems good.

Testicular fibroma: A case report

2013 ◽  
Vol 21 (3-4) ◽  
pp. 139-140
Author(s):  
Sunita Shere ◽  
Anjali Kulkarni ◽  
Shubhjyoti Pore ◽  
Rajan Bindu
Keyword(s):  
Case Report ◽  
Benign Tumor ◽  
Histopathological Diagnosis ◽  
Testicular Mass ◽  
Rare Benign Tumor ◽  
Testicular Malignancy ◽  
Slow Growing

Testicular fibroma of gonadal stromal origin is a rare benign tumor of testis, which usually presents as a slow growing testicular mass. Intratesticular fibroma of gonadal stromal origin, with or without minor sex cord elements, must be considered, analogous to similar tumors in ovary, as a benign tumor. Until now, only 25 cases of testicular fibroma have been reported in the literature. We reported a case of testicular fibroma in a 20 years male who presented with painless right testicular enlargement since two years. Ultrasonography (USG) showed heterogeneous mass in right scrotum suggestive of testicular malignancy. Right orchidectomy was done. Histopathological diagnosis was testicular fibroma, which was confirmed by immunohistochemistry.

scholarly journals OP0102 GENE SCREENING OF PRIMARY IMMUNODEFICIENCY DISEASES IN PATIENTS WITH JUVENILE SYSTEMIC LUPUS ERYTHEMATOSUS

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 66.2-66
Author(s):  
J. LI ◽  
W. Wang ◽  
C. Y. Wang ◽  
J. Y. Pan ◽  
H. Song
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Primary Immunodeficiency ◽  
Lupus Erythematosus ◽  
Gene Sequencing ◽  
Primary Immunodeficiency Disease ◽  
Type I ◽  
Cmv Infection ◽  
Systemic Lupus ◽  
Genetic Tests ◽  
Immunodeficiency Disease

Background:Systemic lupus erythematosus (SLE) is one of the most common auto-immune diseases in childhood. Primary immunodeficiency disease (PID) patients may present or combine with autoimmune diseases.Objectives:This study aimed to perform gene sequencing via high-throughput sequencing technology in a series of Chinese pediatric SLE patients, and investigate the concomitant situation of PIDs and SLE. Gene sequencing results may help clarify the pathogenesis of SLE.Methods:This was a retrospective case series of SLE children who referred to the Peking Union Medical College Hospital between 01/2016 and 09/2019. Genetic tests were performed in patients who met the inclusion criteria. We then collected demographic, clinical, and treatment information of all involved patients. Descriptive statistics were used.Results:Seventy-one patients were finally included (eighteen boys and fifty-three girls). The median age at the time of disease onset was 9.5 (range, 3-15) years. It is notable that five patients experienced their first attack before the age of five. Twenty-seven patients showed a persistent increase in ESR during treatment, while thirteen cases presented with repeated CMV infection, thirty-four cases with persistent low complement levels, seven with basal ganglia calcification showed in skull CT or MRI, four with special type of rash (i.e., frostbite-like rash, discoid erythema, reticular erythema), two with obvious hepatosplenomegaly, and one case with type I diabetes. Gene sequencing results showed that about ten patients combine with primary immunodeficiency disease, including Aicardi-Goutières Syndrome (AGS) (n=4), Spondyloenchondro-dysplasia with immune dysregulation (SPENCDI) (n=1), STING-associated vasculopathy with onset in infancy (SAVI) (n=1), lysinuric protein intolerance (LPI) (n=1), Ras-associated autoimmune leukoproliferative disorder (RALD) (n=2).Conclusion:SLE patients who present atypical or refractory manifestations should attach importance to the existence of primary immunodeficiency disease. Genetic tests are recommended for patients with early-onset SLE, especially those with recurrent frostbite-like rash or persistent CMV infection since childhood.References:[1]T Tarr, B Dérfalvi, N Győri, et al. Similarities and differences between pediatric and adult patients with systemic lupus erythematosus[J]. Lupus. 2015, 24: 796–803.[2]Gupta S, Louis A G. Tolerance and Autoimmunity in Primary Immunodeficiency Disease: a Comprehensive Review[J]. Clinical Reviews in Allergy & Immunology, 2013, 45(2):162-169.Disclosure of Interests:None declared

scholarly journals Leiomyoma: a case report of a rare benign tumor of the female urethra

2015 ◽  
Vol 22 ◽  
Author(s):  
Amine Slaoui ◽  
Abdelouahed Lasri ◽  
Tarik Karmouni ◽  
Khalid Elkhader ◽  
Abdelatif Koutani ◽  
...  
Keyword(s):  
Case Report ◽  
Benign Tumor ◽  
Female Urethra ◽  
Rare Benign Tumor

scholarly journals Laparoscopic Resection of a Giant Dedifferentiated Primary Retroperitoneal Mucinous Cystadenoma (PRMC) in a Young Woman: A Case Report and Literature Review

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Wu L ◽  
Li X ◽  
Li J ◽  
Lai Y
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Literature Review ◽  
Benign Tumor ◽  
Laparoscopic Resection ◽  
Abdominal Cavity ◽  
Mucinous Cystadenoma ◽  
Rare Benign Tumor ◽  
Primary Retroperitoneal

Background: PRMC is a very rare benign tumor of the abdominal cavity that usually occurs in women, and PRMC demonstrate no specific findings on CT. There are many reports on the differential diagnosis and discussion of PRMC imaging, but there are few reports on the treatment of dedifferentiated PRMC using laparoscopic resection and postoperative follow-up.

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