scholarly journals Case Report: A Rare Case of Autoinflammatory Phospholipase Cγ2 (PLCγ2)-Associated Antibody Deficiency and Immune Dysregulation Complicated With Gangrenous Pyoderma and Literature Review

2021 ◽  
Vol 12 ◽  
Author(s):  
Na Wu ◽  
Bingqing Zhang ◽  
Tao Wang ◽  
Min Shen ◽  
Xuejun Zeng
Keyword(s):  
Literature Review ◽  
Rare Case ◽  
English Language ◽  
Missense Variant ◽  
Immune Dysregulation ◽  
High Serum ◽  
Antibody Deficiency ◽  
Recurrent Fever ◽  
Chinese Han ◽  
First Case

BackgroundAutoinflammatory phospholipase Cγ2 (PLCγ2)-associated antibody deficiency and immune dysregulation (APLAID) is a rare autoinflammatory disease caused by gain-of-function mutations in the PLCG2 gene. Here we report a rare case of APLAID patient carrying a novel heterozygous missense PLCG2 I169V mutation with gangrenous pyoderma and concomitant high serum immunoglobulin (Ig) E level.MethodsThe patient was diagnosed as APLAID and has been treated in our department. His phenotype and genotype were carefully documented and studied. We also conducted a comprehensive literature review on APLAID.ResultsA 23-year-old Chinese Han man presented with recurrent fever for 18 years and vesiculopustular rashes for 9 years, along with chronic bronchitis, leukocytosis, increased C-reactive protein, immunodeficiency and high serum IgE. Skin biopsy showed chronic inflammatory cells infiltration. A paternal heterozygous missense variant in exon 6 of the PLCG2 gene p. I169V was identified. His vesiculopustular and IgE level responded to medium dose corticosteroids. After withdrawal of steroids, he developed severe arthritis and a large deteriorating ulceration resembling pyoderma gangrenosum on the left knee. Large dose corticosteroids were suboptimal. Then he received adalimumab with satisfactory response for arthritis and skin lesion. But he got an immunodeficiency-associated lymphoproliferative disorder 2 months later. Through literature review, there were a total of 10 APLAID patients reported by six English-language publications. Vesiculopustular rashes, sinopulmonary infection and immunodeficiency were the most frequent symptoms of APLAID patients. Glucocorticoids, intravenous immunoglobulin and biologics were clinically used to treat APLAID but none of these patients had a complete recovery.ConclusionsThe rarity and diversity of APLAID make it difficult to be diagnosed. Our study reported the first case of APLAID with gangrenous pyoderma and concomitant high IgE carrying a novel PLCG2 mutation, which may expand the clinical phenotype and genotype of APLAID.

scholarly journals Glomus Tumor of the Oral Cavity: Report of a Rare Case and Literature Review

2019 ◽  
Vol 30 (2) ◽  
pp. 185-190 ◽  
Author(s):  
Celeste Sánchez-Romero ◽  
Maria Eduarda Pérez de Oliveira ◽  
Jurema Freire Lisboa de Castro ◽  
Elaine Judite de Amorim Carvalho ◽  
Oslei Paes de Almeida ◽  
...  
Keyword(s):  
Literature Review ◽  
Oral Cavity ◽  
Rare Case ◽  
English Language ◽  
Glomus Tumor ◽  
Benign Neoplasm ◽  
Upper Lip ◽  
Middle Aged Adults ◽  
Glomus Body ◽  
Language Literature

Abstract Glomus tumor is a benign neoplasm composed of a perivascular proliferation of glomic cells that resembles the normal glomus body. Usually, it appears as a solitary, symptomatic small blue-red nodule, located in the deep dermis or subcutis of upper or lower extremities of young to middle-aged adults. Cases affecting the oral cavity are very rare, with only 23 well-documented cases reported in the English-language literature. Herein, we present a rare case of glomus tumor of the upper lip, and review the literature of cases involving the mouth.

Fatal Case of Vulvar Pyoderma Gangrenosum with Pulmonary Involvement: Case Presentation and Literature Review

2014 ◽  
Vol 18 (6) ◽  
pp. 424-429 ◽  
Author(s):  
Joshua M. Mercer ◽  
Paul Kuzel ◽  
Muhammad N. Mahmood ◽  
Alain Brassard
Keyword(s):  
Literature Review ◽  
Pyoderma Gangrenosum ◽  
Rare Case ◽  
Fatal Case ◽  
Pulmonary Involvement ◽  
Review Of The Literature ◽  
Treatment Resistant ◽  
Case Presentation ◽  
First Case ◽  
Systemic Therapies

Introduction: We report a case of a 61-year-old woman with locally destructive vulvar pyoderma gangrenosum (PG) with pulmonary involvement who was refractory to numerous systemic therapies and developed complications resulting in her demise. Objective: To report a rare case of treatment-resistant vulvar PG with pulmonary involvement that proved to be fatal. Methods: PubMed was used to search for other reports that discuss PG, or more specifically perigenital PG, with pulmonary involvement. Results and Conclusion: A thorough review of the literature revealed 33 cases of PG with pulmonary involvement, with only 4 involving the perigenital region. We report the second case of a female with vulvar PG and pulmonary involvement. In contrast to the first case described, our patient did not respond to systemic therapy, and, ultimately, her disease was fatal. It is hoped that with continued documentation of this rare and potentially lethal presentation of PG, physicians will determine more effective treatments.

Otophyma: a case report

2007 ◽  
Vol 122 (5) ◽  
pp. 524-526 ◽  
Author(s):  
K Daniels ◽  
K Haddow
Keyword(s):  
Case Report ◽  
Rare Case ◽  
English Language ◽  
Rare Condition ◽  
Successful Management ◽  
English Language Literature ◽  
First Case ◽  
End Stage ◽  
Slow Growing ◽  
Language Literature

AbstractObjective:We report a rare case of otophyma.Method:A case report of otophyma and a review of the current literature concerning otophyma and the more common rhinophyma, are presented.Results:A 46-year-old male presented with slow growing fleshy growths on both auricles which were excised. A diagnosis of otophyma was made. Although rosacea is more common, otophyma and other ‘phymas’ are thought to be the end stage of the rosacea spectrum of skin disease. However, unlike rhinophyma, otophyma is rarely seen and as a result there is little in the English language literature regarding it. Consequently, the management of otophyma is largely based on previous experiences with rhinophyma.Conclusion:To our knowledge this is the first case report of otophyma in the otolaryngology literature and only the second described in the English language literature. This case demonstrates the difficulties faced in diagnosing this rare condition and our successful management of this case.

scholarly journals Incidental para-ureteral aggressive angiomyxoma: a rare case report and literature review

BMC Urology ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Ming Liu ◽  
Ting-Shuai Zhai ◽  
Xiao-Feng Zhao ◽  
Li-Jin Feng ◽  
Xin-Sheng Lyu ◽  
...  
Keyword(s):  
Literature Review ◽  
Rare Case ◽  
Reproductive Age ◽  
Aggressive Angiomyxoma ◽  
Case Presentation ◽  
Left Ureter ◽  
First Case ◽  
Rare Case Report

Abstract Background Aggressive angiomyxoma (AA) is a rare tumor that typically occurs in the pelvis and perineum, most commonly in women of reproductive age. However, no para-ureteral AA has been reported according to the literature. Case presentation We herein describe the first case of para-ureteral AA. A 62-year-old male presented to our institute in March 2017 with a para-ureteral mass that was 15 mm in diameter incidentally. No symptom was observed and laboratory analysis was unremarkable. Magnetic resonance and computed tomography imaging showed a non-enhancing mass abutting the left ureter without causing obstruction. Laparoscopic resection of the mass was performed without injury to the ureter. Pathologic and immunohistochemical results were consistent with AA. Till now, no recurrence was noticed. Conclusions We reported a rare case of para-ureteral AA, along with a literature review. Early diagnosis, proper surgical plan and long-term close follow-up is recommended for its high risk of recurrence and malignant potential.

scholarly journals A Chinese Case Series of Schnitzler Syndrome and Complete Remission in One Tocilizumab-treated Patient

2020 ◽  
Author(s):  
Ruyu Yan ◽  
Wei Cao ◽  
Xinchao Liu ◽  
Feng Li ◽  
Min Shen
Keyword(s):  
Literature Review ◽  
Systematic Literature Review ◽  
Treated Patient ◽  
Disease Onset ◽  
Case Series ◽  
Recurrent Fever ◽  
Chinese Han ◽  
Tripterygium Wilfordii Hook F ◽  
Schnitzler Syndrome ◽  
Tripterygium Wilfordii Hook

Abstract Background: Schnitzler syndrome (SchS) is a rare acquired systemic autoinflammatory disease. The major clinical features of SchS are urticarial rush and monoclonal gammopathy, accompanied by fever, joint pain and lymphadenopathy. There were few reports about SchS in Chinese population. Herein, we describe two patients with SchS in China and conducted a systematic literature review about SchS. Methods: Two Chinese Han patients were diagnosed as SchS in our department from 2017 to 2019. Their phenotype and genotype were carefully documented and studied. We also conducted a systematic literature review about SchS. Results: There were one man and one woman with an average disease-onset age of 52. Recurrent fever and urticarial rash occurred in both of them during the febrile attacks and normalized in asymptomatic intervals. Other manifestations included arthritis/arthralgia, lymphadenopathy and hearing loss. Hepatic cirrhosis and epilepsy were seen in one patient. None of them had bone pain or family histories. Serum monoclonal IgM gammopathy was found in both patients. MyD88 gene mutation L258P was identified in one patient. They were treated with tocilizumab and tripterygium wilfordii Hook F (TwHF) respectively and both showed good response. Conclusions: The rarity and diversity of SchS makes it difficult to be recognized. The patient in our study was the first SchS with concomitant liver and neural damage. Anti-IL-6 agents and TwHF may be alternative therapies when anti-IL-1 therapy is unresponsive or unavailable.

Lichen planus of the larynx

2011 ◽  
Vol 125 (4) ◽  
pp. 432-435 ◽  
Author(s):  
C E Rennie ◽  
R C Dwivedi ◽  
A S Khan ◽  
N Agrawal ◽  
W Ziyada
Keyword(s):  
Squamous Cell Carcinoma ◽  
Case Report ◽  
Literature Review ◽  
Cell Carcinoma ◽  
Lichen Planus ◽  
Clinical Features ◽  
Rare Case ◽  
English Language ◽  
Carcinoma Of The Larynx ◽  
Oral Steroids

AbstractObjective:We report an extremely rare case of laryngeal lichen planus.Method:A case report and literature review of the aetiopathogenesis, clinical features and management of laryngeal lichen planus are presented.Results:A male patient presented with hoarseness and a history suggestive of squamous cell carcinoma of the larynx. However, characteristic histopathological findings demonstrated lichen planus. The patient responded very well to oral steroids, and at the time of writing had remained symptom-free for two years.Conclusion:This is the first English language report of laryngeal lichen planus. Lichen planus is a diagnosis of exclusion and responds well to steroids. However, patients should be followed up regularly as malignant change is known to occur.

scholarly journals Extraskeletal Osteoma of the Eyelid—A Rare Case Report

2015 ◽  
Vol 08 (02) ◽  
pp. 139
Author(s):  
Sudhir Singh ◽  
Keyword(s):  
Paranasal Sinuses ◽  
Rare Case ◽  
English Language ◽  
Slow Growth ◽  
Compact Bone ◽  
Histopathologic Examination ◽  
Upper Eyelid ◽  
First Case ◽  
Rare Case Report ◽  
Language Literature

Osteoma is a benign osteogenic lesion with a very slow growth, characterized by proliferation of either cancellous or compact bone. Depending on its location, osteoma may be classified as central, peripheral, or extraskeletal type. Osteoma has been reported in relation to the paranasal sinuses and less frequently with the orbit. We report a case of a 25-year-old female who developed extraskeletal osteoma on her left upper eyelid, without involvement of the paranasal sinuses or orbit. Extraskeletal osteoma of the eyelid is an extremely rare variety. The mass was surgically removed and sent for histopathologic examination, which showed osteoma. To the best of our knowledge, this is the first case of extraskeletal osteoma of the eyelid reported in the English language literature.

Popliteal nodal metastasis from squamous cell cancer of the foot. Case report and literature review

2019 ◽  
pp. 1-2
Keyword(s):  
Case Report ◽  
Lymph Node ◽  
Literature Review ◽  
Squamous Cell ◽  
Rare Case ◽  
Squamous Cell Cancer ◽  
Cell Cancer ◽  
Nodal Metastasis ◽  
Regional Disease ◽  
The Right

We report a very rare case of squamous cell cancer of the right foot which had metastasize to the ipsilateral popliteal lymph node after initial diagnosis and treatment for the loco-regional disease.

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