• Title/Summary/Keyword: Chronic granulomatous disease

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A Boy With Blau Syndrome Misdiagnosed as Refractory Kawasaki Disease

  • Kyungwon Cho;Yoonsun Yoon;Joon-sik Choi;Sang Jin Kim;Hirokazu Kanegane;Yae-Jean Kim
    • Pediatric Infection and Vaccine
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    • v.29 no.3
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    • pp.166-172
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    • 2022
  • Blau syndrome is a systemic autoinflammatory disease presenting with non-caseating granulomatous dermatitis, chronic uveitis, and arthritis. It is caused by a gain-of-function variant of the nucleotide-binding oligomerization domain protein 2 gene, which leads to the overactivation of inflammatory cytokines and eventually causes autoinflammation. Since the symptoms of Blau syndrome are nonspecific and usually do not appear simultaneously, it is challenging to differentiate Blau syndrome from other inflammatory disorders. This is a case report of a 13-month-old boy who had suffered from recurrent skin rash and fever. The patient was previously misdiagnosed as refractory Kawasaki disease twice and was treated with intravenous immunoglobulin and systemic glucocorticoid, which only resulted in transient improvement of the symptoms. He was eventually diagnosed with Blau syndrome.

FACIAL ACTINOMYCOSIS FOLLOWING THE EXTRACTION OF LOWER THIRD MOLAR. (지치 발거 후 안면부에 발생한 방선균증의 치험례)

  • Heo, Ji-Young;Kim, Il-Kyu;Oh, Sung-Seob;Choi, Jin-Ho;Oh, Nam-Sik;Cha, Sang-Kweon
    • Maxillofacial Plastic and Reconstructive Surgery
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    • v.23 no.1
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    • pp.82-86
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    • 2001
  • Actinomycosis is chronic, granulomatous, suppurative and fibrosing disease caused by Actinomyces. Actinomyces are anaerobic, G(+), non-acid-fast, branched, filamentous bacteria. The most commonly found microorganism is Actinomyces israelii. Common site for isolation of actinomyces are dental plaque, dental caries, calculus, and tonsillar crypt. A breach in the integrity of the mucosa by direct trauma or following a fracture, tooth extraction, root canal therapy or some intraoral surgical procedure is thought to be the most likely portal of entry. This is a case report of 23 years old male with cervicofacial actinomycosis developed after extraction and treated with surgical excision and antibiotics.

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Toxoplasmosis in a Pet Peach-Faced Lovebird (Agapornis roseicollis)

  • Cooper, Madalyn K.;Slapeta, Jan;Donahoe, Shannon L.;Phalen, David N.
    • Parasites, Hosts and Diseases
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    • v.53 no.6
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    • pp.749-753
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    • 2015
  • Toxoplasma gondii atypical type II genotype was diagnosed in a pet peach-faced lovebird (Agapornis roseicollis) based on histopathology, immunohistochemistry, and multilocus DNA typing. The bird presented with severe neurological signs, and hematology was suggestive of chronic granulomatous disease. Gross post-mortem examination revealed cerebral hemorrhage, splenomegaly, hepatitis, and thickening of the right ventricular free wall. Histologic sections of the most significant lesions in the brain revealed intralesional protozoan organisms associated with malacia, spongiform changes, and a mild histiocytic response, indicative of diffuse, non-suppurative encephalitis. Immunohistochemistry confirmed the causative organisms to be T. gondii. DNA isolated from the brain was used to confirm the presence of T. gondii DNA. Multilocus genotyping based on SAG1, altSAG2, SAG3, BTUB, GRA6, c22-8, c29-2, L358, PK1, and Apico markers demonstrated the presence of ToxoDB PCR-RFLP genotype #3 and B1 gene as atypical T. gondii type II. The atypical type II strain has been previously documented in Australian wildlife, indicating an environmental transmission route.

A case of elk (Cervus elaphus) coccidiosis in Korea (엘크의 구포자충 감염사례)

  • Yoon, Soon-Seek;Bae, You-Chan;Byun, Jae-Won;Lee, Kyeong-Hyun;Jang, Hwan;Song, Jae-Young;Wee, Sung-Hwan
    • Korean Journal of Veterinary Research
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    • v.50 no.2
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    • pp.151-154
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    • 2010
  • A thirty-five week old elk was referred for Chronic Wasting Disease (CWD) confirmation from Chungnam province in Korea. Necropsy revealed much bloody contents in the lumen of small and large intestines, and reddening of its mucosa. Microscopically, few coccidia showing various developmental stages were infiltrated in lamina propria of small intestine with granulomatous inflammation and congestion. They were identified as Eimeria spp. according to their location and morphological characteristics. Because fecal examination and oocyst culture were not available, the species of the Eimeria could not be confirmed. There were no detection of pathogenic bacteria such as clostridia and virus in intestinal contents. CWD was shown to be negative in immunohistochemistry test. In conclusion, it was the first Eimeria case detected in small intestine of Korean domestic elk as far as we know although Eimeria spp. were not the main cause of death.

Paratuberculosis in mouflon (ovis musimon) : A case report (무플론 요네병 발생 사례)

  • Bae, You-Chan;Kim, Ha-Young;Kim, Heui-Jin;Yoon, Soon-Seek;Park, Jung-Won;Jean, Yong-Hwa;Cho, Kyoung-Oh;Kang, Mun-Il
    • Korean Journal of Veterinary Research
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    • v.46 no.3
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    • pp.271-274
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    • 2006
  • A 2-years-old female domesticated mouflon with a clinical history of chronic diarrhea and emaciation was submitted to NVRQS. Grossly, there were severe thickening of small intestine wall and enlargement of mesenteric lymph nodes. Microscopically, severe granulomatous inflammation was found in small and large intestine, mesenteric lymph nodes, spleen and liver. By Ziehl-Neelsen stain, innumerable acid-fast rod bacteria were found in the cytoplasm of epitheloid and Langhans type giant cells present in these organs. By PCR assay with primer pair specific for Mycobacterium avium subspecies paratuberculosis(IS 900) with small intestine sample, strong positive reaction was detected, although the organism was not isolated from this organ. Based on the results of histopathology and PCR, we concluded that the case was a typical paratuberculosis in mouflon. As far as we know, this is the first case report of paratuberculosis in mouflon Korea.

Differential diagnosis and treatment of periodontitis-mimicking actinomycosis

  • Kim, Nam Ryang;Park, Jun-Beom;Ko, Youngkyung
    • Journal of Periodontal and Implant Science
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    • v.42 no.6
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    • pp.256-260
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    • 2012
  • Purpose: Actinomycosis is an uncommon chronic granulomatous disease that presents as a slowly progressive, indolent, indurated infiltration with multiple abscesses, fistulas, and sinuses. The purpose of this article is to report on a case of actinomycosis with clinical findings similar to periodontitis. Methods: A 46-year-old female presented with recurrent throbbing pain on the right first and second molar of the mandible three weeks after root planing. Exploratory flap surgery was performed, and the bluish-gray tissue fragment found in the interproximal area between the two molars was sent for histopathology. Results: The diagnosis from the biopsy was actinomycosis. The clinical and radiographic manifestations of this case were clinically indistinguishable from periodontitis. The patient did not report any symptoms, and she is scheduled for a follow-up visit. Conclusions: The present study has identified periodontitis-mimicking actinomycosis. Actinomycosis should be included in the differential diagnosis in cases with periodontal pain and inflammation that do not respond to nonsurgical treatment for periodontitis. More routine submissions of tissue removed from the oral cavity for biopsies may be beneficial for differential diagnosis.

Subcutaneous Sarcoidosis Occurring in Both Chin and Toe

  • Kim, Kwang Seog;Lim, Dong Seob;Choi, Jun Ho;Hwang, Jae Ha;Lee, Sam Yong
    • Archives of Craniofacial Surgery
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    • v.18 no.3
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    • pp.207-210
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    • 2017
  • Sarcoidosis is a systemic inflammatory disease characterized by non-caseating granulomas of unknown origin. Of the fewer than 6% of sarcoidosis cases that occur in subcutaneous tissue, most occur on the face or forearm, but rarely in the toe. A 33-year-old man was admitted to our institute with a 2-cm mass on his chin and a 0.5-cm mass on his right fourth toe. Based on preoperative ultrasonography, epidermal cysts were suspected, and histopathological tests were performed after removing the masses. Histopathologically, the chin and toe tissue samples showed chronic granulomatous inflammation, without necrosis, indicative of sarcoidosis. Chest computed tomography revealed a large number of small nodules in both the interlobar fissures and the peribronchial area, and a large number of small lymph nodes in both the hilar and interlobar node areas. On the basis of the histopathologic and imaging findings, the patient was diagnosed with sarcoidosis. This very rare case of sarcoidosis, occurring in both chin and toe, suggests that thorough evaluation is needed to find other mass when we find sarcoidosis in facial area.

Two Cases of Spleen Tuberculosis (비장을 침범한 결핵 2예)

  • Park, Jeong-Hyun;Ko, Hyeck-Jae;Shim, Hyeok;Yang, Sei-Hoon;Jeong, Eun-Taik
    • Tuberculosis and Respiratory Diseases
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    • v.50 no.5
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    • pp.630-635
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    • 2001
  • Tuberculosis is a common chronic infectious disease, although the spleen is an uncommon organ to harbor tubercle bacilli. Immunocompromised subjects are primarily prone to miliary tuberculosis and in them the spleen is invaded by Mycobacterium tuberculosis. Spleen tuberculosis is manifested commonly as a miliary form. The basic pathology is granulomatous inflammation. The CT findings of splenic tuberculosis are multiple, well-defined, round or ovoid, low-density masses. Lymphadenopathy in the abdomen and mediastinum and pleural effusion can be found. We report two cases with tuberculosis of the spleen proved by computed tomography and histologic identification. One patient did not improve following antituberculous medication, so splenectomy was performed. The other patient has been treated with antituberculous medication.

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Solitary Jejunal Tuberculosis with Intestinal Obstruction in an Immunocompetent Patient (면역 능력이 있는 성인에서의 장폐색을 동반한 단일 공장 결핵 1예)

  • Bae, Hyun Jin;Park, Jong Ho;Jin, Su Sin;Jung, Jiyun;Nam, Yun Jung;Kim, Da Won
    • The Korean Journal of Medicine
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    • v.93 no.6
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    • pp.556-559
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    • 2018
  • Intestinal tuberculosis is an infection of the gastrointestinal tract by the Mycobacterium tuberculosis complex. To the best of our knowledge, solitary intestinal tuberculosis accompanied by intestinal obstruction, particularly in the middle of the small intestine, is extremely rare. We report a case of solitary jejunal tuberculosis in a 49-year-old man with no underlying disease. He was admitted a few days after the onset of diffuse abdominal discomfort. Upon evaluation, we initially considered a malignancy of the distal jejunum with ileus due to the presence of a mass. Therefore, he underwent laparoscopic resection of the small bowel. Unexpectedly, the histologic specimen showed a chronic caseating granulomatous lesion with acid-fast bacilli. Ultimately, he was diagnosed with solitary jejunal tuberculosis. He was successfully treated with anti-tuberculosis drugs without any complications.

Primary hepatic sarcoidosis presenting with cholestatic liver disease and mimicking primary biliary cholangitis: a case report

  • Park, Young Joo;Woo, Hyun Young;Kim, Moon Bum;Ahn, Jihyun;Heo, Jeong
    • Journal of Yeungnam Medical Science
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    • v.39 no.3
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    • pp.256-261
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    • 2022
  • Sarcoidosis often involves the liver. However, primary hepatic sarcoidosis confined to the liver without evidence of systemic involvement is rare. We report the case of a 37-year-old man with hepatic sarcoidosis who initially presented with elevated liver enzymes and suspicious cirrhotic nodules on computed tomography. The patient had cirrhosis but did not have portal hypertension. Based on the initial histopathologic finding of chronic granulomatous inflammation and the common clinical characteristics of sarcoidosis, he was initially diagnosed with primary biliary cholangitis, and his daily dosage of ursodeoxycholic acid was increased to 900 mg. After 14 months of treatment, his total serum bilirubin concentration was 10.9 mg/dL (upper normal limit, 1.2 mg/dL). Additionally, a transjugular liver biopsy revealed multiple noncaseating granulomas. He was diagnosed with primary hepatic sarcoidosis involving the lungs, heart, spleen, kidneys, and skin. Treatment with methylprednisolone was initiated. Two weeks later, he was started on azathioprine, and the dose of steroid was simultaneously reduced. These findings indicate the importance of including hepatic sarcoidosis as a possible diagnosis in patients with elevated liver enzymes or cryptogenic cirrhosis.