scholarly journals Eosinophilic fasciitis: an atypical presentation of a rare disease

2019 ◽  
Vol 65 (3) ◽  
pp. 326-329
Author(s):  
Catia Cabral ◽  
António Novais ◽  
David Araujo ◽  
Ana Mosca ◽  
Ana Lages ◽  
...  
Keyword(s):  
Rare Disease ◽  
Rare Case ◽  
Unknown Etiology ◽  
Eosinophilic Fasciitis ◽  
Atypical Presentation ◽  
Peripheral Eosinophilia ◽  
First Line ◽  
Erythrocyte Sedimentation ◽  
High Doses ◽  
High Erythrocyte Sedimentation Rate

SUMMARY Eosinophilic fasciitis, or Shulman's disease, is a rare disease of unknown etiology. It is characterized by peripheral eosinophilia, hypergammaglobulinemia, and high erythrocyte sedimentation rate. The diagnosis is confirmed by a deep biopsy of the skin. The first line of treatment is corticotherapy. We present a rare case of eosinophilic fasciitis in a 27-year-old woman with an atypical presentation with symmetrical peripheral edema and a Groove sign. The patient responded well to treatment with corticosteroids at high doses and, in this context, was associated with hydroxychloroquine and azathioprine. After two and a half years, peripheral eosinophilia had increased, and more of her skin had hardened. At that time, the therapy was modified to include corticoids, methotrexate, and penicillamine. It is of great importance to publicize these cases that allow us to gather experience and better treat our patients.

Refractory eosinophilic fasciitis successfully treated with infliximab: A case report

2021 ◽  
pp. 239719832110043
Author(s):  
Paulina Śmigielska ◽  
Justyna Czarny ◽  
Jacek Kowalski ◽  
Aleksandra Wilkowska ◽  
Roman J. Nowicki
Keyword(s):  
Case Report ◽  
Connective Tissue ◽  
Treatment Failure ◽  
Immunosuppressive Drugs ◽  
Unknown Etiology ◽  
High Dose ◽  
Eosinophilic Fasciitis ◽  
Line Treatment ◽  
First Line ◽  
First Line Treatment

Eosinophilic fasciitis is a rare connective tissue disease of unknown etiology. Therapeutic options include high-dose corticosteroids and other immunosuppressive drugs. We present a typical eosinophilic fasciitis case, which did not respond to first-line treatment, but improved remarkably after infliximab administration. This report demonstrates that in case of initial treatment failure, infliximab might be a relatively safe and effective way of eosinophilic fasciitis management.

Case Report: Gastrointestinal Basidiobolomycosis with Multi-Organ Involvement Presented with Intussusception

2021 ◽  
Author(s):  
Zahra Jafarpour ◽  
Gholamreza Pouladfar ◽  
Alireza Dehghan ◽  
Mohammad Hossein Anbardar ◽  
Hamid Reza Foroutan
Keyword(s):  
Liposomal Amphotericin ◽  
Colonic Mucosa ◽  
Bowel Wall ◽  
Abdominal Mass ◽  
Exploratory Laparotomy ◽  
Peripheral Eosinophilia ◽  
Liver Sample ◽  
Erythrocyte Sedimentation ◽  
Life Threatening ◽  
High Erythrocyte Sedimentation Rate

Gastrointestinal basidiobolomycosis (GIB) is a rare, life-threatening fungal infection affecting immunocompetent individuals in tropical and subtropical regions. A diverse presentation of GIB has been reported, but no report has yet been published on intussusception. We describe a 23-month-old immunocompetent boy from a subtropical area in Iran who presented with intussusception. Prolonged fever, an abdominal mass, hepatomegaly, high erythrocyte sedimentation rate, and peripheral eosinophilia strongly suggested GIB. Accordingly, GIB was diagnosed based on the characteristic histopathology (the Splendore-Hoeppli phenomenon) detected in a liver sample taken via biopsy. Exploratory laparotomy showed several organs, including the colon, gall bladder, liver, and abdominal wall, were involved. Antifungal therapy with trimethoprim/sulfamethoxazole, liposomal amphotericin B, a saturated solution of potassium iodide, and surgical resection of involved tissues were used with improved outcome. The presence of non-septate fungal hyphal elements in the colonic mucosa led to the thickening of the bowel wall, leading to secondary intussusception.

scholarly journals Eosinophilic Fasciitis: an Atypical Presentation of a Rare Disease

2015 ◽  
Vol 2 (2) ◽  
Author(s):  
Sabrina Poradosu ◽  
Esther Vanderlinden ◽  
Alex Michotte ◽  
Hendrik De Raeve ◽  
Sabine Allard
Keyword(s):  
Rare Disease ◽  
Eosinophilic Fasciitis ◽  
Atypical Presentation

scholarly journals A rare case of giant verruciform xanthoma in the palate

2014 ◽  
Vol 62 (1) ◽  
pp. 77-81
Author(s):  
Eduardo Augusto ROSA ◽  
Rivadávio Fernandes Batista de AMORIM
Keyword(s):  
Rare Disease ◽  
Lamina Propria ◽  
Rare Case ◽  
Hard Palate ◽  
Unknown Etiology ◽  
Histopathological Analysis ◽  
Verruciform Xanthoma ◽  
Oral Site ◽  
Disease Free ◽  
Vacuolated Cytoplasm

Verruciform xanthoma represents a rare disease of unknown etiology that typically affects the oral mucosa. In most cases, it is asymptomatic and characterized by a well demarcated elevation with irregular or papillary surface. The gums are the most affected oral site, and the lesion is usually less than 2 cm in diameter. The aim of this study is to report a rare case of an extensive verruciform xanthoma in the hard palate and gums of a 55-year-old male. Clinically, the well delimitated, reddish, elastic lesion measuring approximately 2.8 X 1.5 cm had a slightly granular surface. Histopathological analysis found proliferative epithelial activity with evident papillomatosis, parakeratosis, and large epithelial ridges. Xanthomatous cells with clear, vacuolated cytoplasm were detected in the lamina propria. The patient has been disease free for 18 months. According to an extensive research in the PubMed, MEDLINE, and Lilacs databases, this paper describes one of the most extensive cases of verruciform xanthoma reported in the literature.

scholarly journals A rare case of eosinophilic cholangiopathy

2020 ◽  
Vol 34 ◽  
pp. 205873842094175
Author(s):  
Wenya Li ◽  
Feizhao Jiang ◽  
Xiaoxiao Li ◽  
Hong Li ◽  
Zhihai Zheng
Keyword(s):  
Laparoscopic Cholecystectomy ◽  
Bile Duct ◽  
Rare Case ◽  
Extrahepatic Bile Duct ◽  
Definitive Diagnosis ◽  
Malignant Diseases ◽  
Peripheral Eosinophilia ◽  
Number Of Patients ◽  
Accurate Treatment ◽  
Duct Excision

Eosinophilic cholangiopathy is termed as a rare, benign, and self-limiting disease. Moreover, the interference of malignant tumor to diagnosis and the changing process of disease make the accurate treatment proposal challenging. A significant number of patients require surgery for the definitive diagnosis and resolution of symptoms. We put forward a case of eosinophilic cholangiopathy infiltrating the gallbladder and bile duct with bone marrow involved, coupled with peripheral eosinophilia. The patient underwent a successful treatment using laparoscopic cholecystectomy and steroids, instead of extrahepatic bile duct excision with Roux-en-Y hepaticojejunostomy. The patient gets an accurate treatment in a minimally invasive manner. In conclusion, surgery refers to not only a diagnostic methodology but also a treatment. When the bile duct and gallbladder are involved at the same time, and cannot distinguish benign and malignant diseases, laparoscopic cholecystectomy is feasible, the effect is the same, and the symptoms of eosinophilic cholecystitis are relieved.

scholarly journals Systemic congenital lymphangiomatosis

1996 ◽  
Vol 114 (5) ◽  
pp. 1278-1281 ◽  
Author(s):  
Ligia Maria Suppo de Souza ◽  
Maria Regina Bentlin ◽  
Eliana Souto de Abreu ◽  
Carlos Eduardo Bacchi
Keyword(s):  
Young Adults ◽  
Respiratory Failure ◽  
Rare Disease ◽  
Poor Prognosis ◽  
Rare Case ◽  
Soft Tissues ◽  
Lymphatic Channel ◽  
Autopsy Findings ◽  
Children And Young Adults ◽  
Cervical Area

Systemic lymphangiomatosis is a rare disease characterized by the exageration of lymphatic channel proliferation, occurring in children and young adults. We describe an extremely rare case of congenital systemic lymphangiomatosis in a newborn who had ascitis and respiratory failure develop immediately after delivery. Death occurred during the first hour of life. Autopsy findings showed numerous cysts in soft tissues of the cervical area, mediastinum and diaphragm, and several other organs including the liver, spleen, thyroid and kidneys. The severe and diffuse involvement with cysts in both lungs by lymphangiomatosis was associated with poor prognosis and death in our case.

scholarly journals Belated Diagnosis of a Primary Bone Lymphoma of the Elbow: A Rare Case and Review of the Literature

2020 ◽  
pp. 100-107
Author(s):  
Michele Boffano ◽  
Nicola Ratto ◽  
Martina Rezzoagli ◽  
Andrea Conti ◽  
Pietro Pellegrino ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Rare Disease ◽  
Rare Case ◽  
Early Stage ◽  
Bone Lesions ◽  
Review Of The Literature ◽  
Primary Bone Lymphoma ◽  
Lytic Bone Lesions ◽  
Primary Bone ◽  
Bone Lymphoma

Primary non-Hodgkin bone lymphoma (PBL) is a rare disease that accounts for <2% of all lymphomas in adults. PBL can be monostotic or polyostotic, mainly causing destructive and lytic bone lesions frequently located in the femur, humerus, and pelvis. PBL is rarely considered a differential diagnosis of the osteolytic tumor. In addition, PBL is not uncommonly diagnosed with delay because patients do not experience symptoms nor show objective abnormalities in the early stage of disease. Here, we reported a 60-year-old woman with a PBL of the elbow.

scholarly journals Episodic headache with spontaneous hypothermia reveal Shapiro’s syndrome variant with effectiveness of clonidine therapy

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Mickael Aubignat ◽  
Melissa Tir ◽  
Pierre Krystkowiak ◽  
Daniela Andriuta
Keyword(s):  
Parkinson’S Disease ◽  
Rare Disease ◽  
Rare Case ◽  
Motor Fluctuation ◽  
International Classification ◽  
Headache Disorders ◽  
Case Presentation ◽  
Episodic Headache ◽  
Triggering Factor

Abstract Background Episodic headache with spontaneous hypothermia constitute an uncommon association and is not well recognized in the International Classification of Headache Disorders (ICHD-3). Spontaneous periodic hypothermia, also called Shapiro’s syndrome, is a rare disease characterized by hypothermia attacks associated or not with hyperhidrosis without any triggering factor. Case presentation We report a rare case of Shapiro’s syndrome variantrevealed by episodes of headache with spontaneous hypothermia witheffectiveness of clonidine therapy in a 76-year-old Parkinson’s disease woman. Conclusions In the literature, apart from Shapiro’s syndrome, headache withhypothermia seem to occur very rarely. In our case,these symptoms may be considered as a very rare non-motor fluctuation ofParkinson’s disease.

Recurrent transient loss of airway secondary to regurgitated pedunculated hypopharyngeal liposarcoma

2021 ◽  
Vol 14 (5) ◽  
pp. e240503
Author(s):  
Craig John Hickson ◽  
Omar Ahmed ◽  
Juliet Laycock ◽  
Robert Hone
Keyword(s):  
Airway Obstruction ◽  
Multidisciplinary Team ◽  
Rare Case ◽  
Atypical Presentation ◽  
Team Meetings ◽  
Acute Airway Obstruction ◽  
History Of ◽  
Transient Loss ◽  
Multidisciplinary Team Meetings

We describe a rare case of hypopharyngeal liposarcoma with an atypical presentation. The patient presented with a 3-month history of intermittent, transient acute airway obstruction. In between episodes, he was asymptomatic. A pedunculated tumour originating in the postcricoid region was seen to be suspended into the oesophagus and intermittently regurgitated into the larynx to cause airway obstruction. The lesion was endoscopically removed and examined histologically to confirm the diagnosis. On-going management of rare lesions such as this should be through multidisciplinary team meetings at a tertiary sarcoma centre.

scholarly journals Azacitidine-induced acute lung injury in a patient with therapy-related myelodysplastic syndrome

2017 ◽  
Vol 45 (2) ◽  
pp. 886-893 ◽  
Author(s):  
Shinichi Makita ◽  
Wataru Munakata ◽  
Daisuke Watabe ◽  
Akiko Miyagi Maeshima ◽  
Hirokazu Taniguchi ◽  
...  
Keyword(s):  
Adverse Event ◽  
Acute Lung Injury ◽  
Lung Injury ◽  
Myelodysplastic Syndrome ◽  
Antimicrobial Agents ◽  
Unknown Etiology ◽  
Line Treatment ◽  
First Line ◽  
Negative Results ◽  
First Line Treatment

Azacitidine is a first-in-class demethylating agent, and it is widely used globally as a first-line treatment for higher-risk myelodysplastic syndrome (MDS). Here, we report the case of a patient with MDS who suffered from a rare adverse event, an acute lung injury (ALI), which was suspected to have been caused by azacitidine and was successfully treated with corticosteroids. As it is a rare, but critical, adverse event, clinicians should consider ALI as one of the differential diagnoses in cases where 1) pneumonia and fever of unknown etiology arise in MDS patients treated with azacitidine, 2) antimicrobial agents are not effective, and 3) microbiological tests produce negative results.

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