JOB'S SYNDROME: A RARE CASE REPORT

2021 ◽  
pp. 34-35
Author(s):  
Eshwar Rajesh ◽  
Shakuntala T
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Elevated Serum ◽  
Deciduous Teeth ◽  
Job’S Syndrome ◽  
Rare Case Report ◽  
Tissue Abnormalities ◽  
Job's Syndrome ◽  
Shed Light

Hyper IgE Syndrome (HIES) or Job's Syndrome is a complex primary immunodeciency disorder characterized by elevated serum IgE levels, recurrent skin rashes, eosinophilia, skeletal and connective tissue abnormalities. The patients also exhibit features of specic facies, retention of deciduous teeth and susceptibility to infections. HIES is a rare genetic disorder where some cases are inherited as autosomal dominant or autosomal recessive but most cases are supposedly sporadic. Hereby we present a case of 12-year-old male child admitted in the hospital with complaints of fever, skin rashes, intermittent abdominal pain and generalised lymphadenopathy. As there is no denite cure for HIES, the approach was directed towards conservative management. Due to the extreme paucity of reported cases in literature, this case report can help shed light on a syndrome of such rarity.

scholarly journals Hyper-immunoglobulin E (Job's syndrome): A rare case report

2017 ◽  
Vol 18 (1) ◽  
pp. 73
Author(s):  
Shubhankar Mishra ◽  
SunilK Agarwalla ◽  
Sadhana Panda ◽  
AshisK Patel
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Immunoglobulin E ◽  
Job’S Syndrome ◽  
Rare Case Report ◽  
Job's Syndrome

Job’s Syndrome: A Rare Case Report

2020 ◽  
Vol 59 (4-5) ◽  
pp. 505-507
Author(s):  
S. Richa ◽  
Himani Bhasin ◽  
Bishnupriya Sahoo ◽  
Pankaj Abrol ◽  
Shashi Sharma
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Job’S Syndrome ◽  
Rare Case Report ◽  
Job's Syndrome

Combined Job's Syndrome and Klinefelter Syndrome: a case report

2017 ◽  
Vol 176 (9) ◽  
Author(s):  
Graziella Di Grezia ◽  
Teresa Iannaccone ◽  
Vincenzo Prisco ◽  
Roberto Grassi ◽  
Gianluca Gatta
Keyword(s):  
Case Report ◽  
Klinefelter Syndrome ◽  
Job’S Syndrome ◽  
Job's Syndrome

scholarly journals Bardet Biedl Syndrome: A Rare Case Report in a Tertiary Care Teaching Hospital, Dhaka, Bangladesh

2021 ◽  
Vol 3 (1) ◽  
pp. 11-14
Author(s):  
Sadia Saber ◽  
Mohammad Dabir Hossain ◽  
Mohammed Tarek Alam ◽  
Mohammad Monower Hossain ◽  
Suhail Gulzar
Keyword(s):  
Rare Case ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Tertiary Care ◽  
Consanguineous Marriage ◽  
Bardet Biedl Syndrome ◽  
Excessive Weight ◽  
Rare Case Report ◽  
Males And Females ◽  
Renal Abnormalities

Bardet Biedl Syndrome (BBS) is an infrequent ciliopathic autosomal recessive genetic disorder that produces many effects and affects various body systems. Consanguineous marriage is conventionally considered as the most frequent etiology. The primary characteristics of the disorder are gradual visual impairment caused by retinal abnormalities, excessive weight gain, learning disabilities, Postaxial Polydactyly, Hypogonadism in males, renal abnormalities (kidney malformations and/or malfunctions). It affects both males and females. There is currently no specific cure for BBS but children with BBS benefit greatly from therapies like physical, occupational, speech and vision services. We, here, have presented a young boy of 15 years with the features of Bardet Biedl Syndrome.

scholarly journals A Rare and Fatal Complication of a Self-Limiting Infection: A Case Report on Dengue Associated Hemophagocytic Lymphohistiocytosis

2019 ◽  
Vol 30 (2) ◽  
pp. 93-95
Author(s):  
Alvin Oliver Payus ◽  
Cheong Lei Wah ◽  
Syahrul Sazliyana Shaharir
Keyword(s):  
Case Report ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Autosomal Recessive ◽  
De Novo ◽  
Medical Condition ◽  
Early Recognition ◽  
Genetic Disorder ◽  
Intravenous Methylprednisolone ◽  
Appropriate Treatment ◽  
Life Threatening

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening medical condition characterized by hyperphagocytosis secondary to an inappropriate over-activation of macrophages and lymphocytes that driven by excessive cytokines production which resulted in cellular destructions. It can arise de novo as a result of an autosomal recessive genetic disorder, or in the background of an infection, malignancy or autoimmune disease. Dengue fever is one of the uncommon causes of infection related secondary HLH. Here, we present a case of a Dengue associated HLH which was successfully treated with intravenous methylprednisolone and immunoglobulin G. In conclusion, the purpose of this case report is to illustrate the importance of early recognition and prompt initiation of the appropriate treatment for HLH suspected patient whom otherwise has high mortality rate. Bangladesh J Medicine July 2019; 30(2) : 93-95

scholarly journals Management of Recurrent Lung Infections in a Case of Hyperimmunoglobulinemia E (or Job’s) Syndrome

1995 ◽  
Vol 2 (1) ◽  
pp. 77-80
Author(s):  
M Arsenault ◽  
V Echave ◽  
C Fish ◽  
J-P Praud
Keyword(s):  
Elevated Serum ◽  
Middle Lobe ◽  
Pulmonary Complications ◽  
Pulmonary Infections ◽  
Job’S Syndrome ◽  
Right Middle Lobe ◽  
Lung Infections ◽  
The Right ◽  
Job's Syndrome ◽  
Hyperimmunoglobulinemia E

The diagnosis of hyperimmunoglobulinemia E (hyper IgE) or Job’s syndrome was made in a five-month-old girl with chronic staphylococcal mastitis, elevated serum IgE and abnormal neutrophil chemotaxis. After multiple hospitalizations for severe skin in functions, right upper lobe bullae were found and treated by lobectomy when the patient was three years of age. Thereafter, the patient was repeatedly hospitalized for pneumonia while on cloxacillin prophylaxis and receiving regular chest physiotherapy. When she was 12 years old, pulmonary deterioration (increased frequency of pulmonary infections, hemoptysis, radiological destruction or the right middle lobe) led 10 a right middle lobectomy. Since this intervention, the patient has had an improved quality nf life, takes part in regular sports activities, without recurrence of severe pulmonary infections, and has had near normal pulmonary function studies. A concerted medicosurgical therapeutic regimen can control severe pulmonary complications in patients with this rare syndrome.

scholarly journals MUCINOUS CYST ADENOMA OF THE PANCREAS ASSOCIATED WITH MARKEDLY ELEVATED SERUM AND INTRA-CYSTIC CA19-9 LEVELS -A RARE CASE REPORT-

1991 ◽  
Vol 52 (4) ◽  
pp. 876-880
Author(s):  
Makoto ISOBE ◽  
Hiroyuki HORIUCHI ◽  
Setsuo EDAKUNI ◽  
Yukiyasu NAKAMURA ◽  
Atsushi FUZIMASA ◽  
...  
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Elevated Serum ◽  
Cyst Adenoma ◽  
Rare Case Report ◽  
Mucinous Cyst

scholarly journals Imaging manifestations of juvenile hyaline fibromatosis: A case report and literature review

2022 ◽  
Author(s):  
Jinfen Yu ◽  
Wang Linsheng ◽  
Tian Jing ◽  
Yu Xuewen ◽  
Lixin Sun
Keyword(s):  
Skeletal Muscle ◽  
Case Report ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Juvenile Hyaline Fibromatosis ◽  
Autosomal Recessive Condition ◽  
Hypointense Signal ◽  
Head Neck ◽  
Chromosome 4Q21 ◽  
Hyaline Material

Objective: Juvenile hyaline fibromatosis (JHF) is an autosomal recessive condition caused by a mutation in capillary morphogenesis gene 2 (CMG2) on chromosome 4q21. JHF is an extremely rare genetic disorder, and fewer than a hundred cases have been reported worldwide. In this case report, the clinical features, histopathological features and imaging manifestations of a case of JHF are presented. We present imaging manifestations of one case of JHF to deepen the radiologist’s understanding of this condition. The histopathological feature of JHF is hyaline degeneration involving skeletal muscle. Therefore, the lesion has a slightly high density on CT imaging, iso- or hypointense signal on T1WI and hypointense signal on T2WI. The boundary between the lesion and skeletal muscle is unclear. Methods: An 8-year-old male (case 1) was examined in our department with a complaint of multiple masses on the head, neck and back in 2021. The boy was the only child of his parents and was delivered at 40 weeks gestation by caesarean section. His parents were nonconsanguineous. Results : JHF displays multiple slowly or rapidly growing subcutaneous nodules. The imaging manifestations can reflect histopathological components, including nodular connective tissue and amorphous, partially calcified hyaline material.

scholarly journals An observation of autosomal recessive hyper-IgE syndrome: a rare case report

2017 ◽  
Vol 104 (6) ◽  
pp. 676-679
Author(s):  
Tasleem Arif ◽  
Mohammad Adil ◽  
Syed Suhail Amin ◽  
Konchok Dorjay
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Autosomal Recessive ◽  
Hyper Ige Syndrome ◽  
Rare Case Report
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