scholarly journals Systemic Dego`s Disease. Our Approach to the Diagnosis and the Follow-Up. A Case reports.

2020 ◽  
Vol 4 (2) ◽  
pp. 729-731
Author(s):  
Fadil GRADICA ◽  
Daniela XHEMALAJ
Keyword(s):  
Case Reports ◽  
Thromboangiitis Obliterans ◽  
Unknown Etiology ◽  
Medium Size ◽  
Cutaneous Lesions ◽  
Male Predominance ◽  
Malignant Atrophic Papulosis ◽  
Degos Disease ◽  
Sporadic Cases ◽  
Age Range

Degos’ disease, also known as “malignant atrophic papulosis” is a rare vasculopathy characterized by typical cutaneous lesions with an unknown etiology which was first described by Dego in 1942 (1), but another case, reported in 1941 by Köhlmeier, who interpreted it as thromboangiitis obliterans of the mesenteric vessels (2). It is an occlusive arteriopathy involving small-caliber vessels. Specifically, it is a progressive, small- and medium-size arterial occluding disease, leading to tissue infarction and initially involving the skin. Degos disease occurs both in a limited benign, cutaneous form and in a potentially lethal multiorgan, systemic variant. The disease has a male predominance (3:1), and sporadic cases of familial involvement have been recorded. (3-7). The involvement of the gastrointestinal tract and other organs has been noted in approximately 60% of reported cases (8). There are fewer than 50 living patients presently known worldwide, and fewer than 200 reported in medical literature. However, many individuals may go undiagnosed due to rarity of the disease (9,10).  Most individuals develop symptoms between the ages of 20-50; however, cases outside of this age range have been reported as well, even as early as 8 months (1,6).

Cannabis-associated arteritis

VASA ◽  
2010 ◽  
Vol 39 (1) ◽  
pp. 43-53 ◽  
Author(s):  
Grotenhermen
Keyword(s):  
Systematic Review ◽  
Case Reports ◽  
Case Series ◽  
Cardiovascular Effects ◽  
Causative Factor ◽  
Cannabis Use ◽  
Thromboangiitis Obliterans ◽  
Pathological Features ◽  
Scientific Support ◽  
Clinical And Pathological Features

Background: To investigate the hypothesis that cases of arteritis similar to thromboangiitis obliterans (TAO) and associated with the use of cannabis were caused by cannabis or THC (dronabinol), or that cannabis use is a co-factor of TAO. Patients and methods: A systematic review on case reports and the literature on so-called cannabis arteritis, TAO, and cardiovascular effects of cannabinoids was conducted. Results: Fifteen reports with 57 cases of an arteritis associated with the use of cannabis and two additional case series of TAO, in which some patients also used cannabis, were identified. Clinical and pathological features of cannabis-associated arteritis do not differ from TAO and the major risk factor of TAO, tobacco use, was present in most, if not in all of these cases. The proposed pathophysiological mechanisms for the development of an arteritis by cannabis use are not substantiated. Conclusions: The hypothesis of cannabis being a causative factor or co-factor of TAO or an arteritis similar to TAO is not supported by the available evidence. The use of the term “cannabis arteritis” should be avoided until or unless more convincing scientific support is forthcoming.

scholarly journals 354. The Epidemiology and Clinical Features of Acanthamoeba Disease in the United States, 1956–2018

2020 ◽  
Vol 7 (Supplement_1) ◽  
pp. S246-S246
Author(s):  
Kevin O’Laughlin ◽  
Jennifer R Cope ◽  
Zachary A Marsh
Keyword(s):  
United States ◽  
Case Reports ◽  
The United States ◽  
Severe Illness ◽  
People Living With Hiv ◽  
Cutaneous Lesions ◽  
Free Living ◽  
Organ Systems ◽  
Free Living Ameba ◽  
Soil And Water

Abstract Background Acanthamoeba is a free-living ameba found worldwide in soil and water that can cause severe illness. Transmission is thought to be through the skin, eyes, or lungs; Acanthamoeba can cause disseminated infection (Acanthamoeba disease) in addition to the more widely recognized Acanthamoeba keratitis. Infections however are rare, and only case reports or small case series have been published. We review Acanthamoeba disease cases from the Centers for Disease Control and Prevention (CDC) free-living ameba registry to characterize the disease in the United States. Methods CDC maintains a free-living ameba (FLA) registry of laboratory-confirmed Acanthamoeba cases (excluding keratitis) sourced from published case reports, CDC case report forms, and CDC laboratory results. SAS© version 9.4 software was used to calculate descriptive statistics and frequencies. Results We identified 163 cases of Acanthamoeba disease between 1956 and 2018. Of cases with documented outcome, 85% were fatal (105/124). Most (88%) cases were in patients who were immunocompromised (136/155): 66 people living with HIV (of whom 49 were classified as having AIDS); 33 recipients of organ transplantation; 30 people diagnosed with malignancy. The most common manifestation of disease was encephalitis (49%). Other clinical presentations included cutaneous lesions (20%) and rhinosinusitis (6%); 40 cases involved multiple organ systems. Median patient age was 42 years (range 0–83 years). Males accounted for 71% (114/160) of cases. California (29) and Texas (14) had the most case reports; 30 other states reported cases. The source of exposure was unknown in most cases (75%); soil and water were documented in 14 and 17 cases, respectively. Conclusion Acanthamoeba disease in the United States is primarily characterized by encephalitis and cutaneous lesions that affect predominately immunocompromised individuals. Acanthamoeba as a cause of encephalitis in immunocompromised patients should be considered by clinicians, which may lead to earlier diagnosis and treatment. Disclosures All Authors: No reported disclosures

Proteus syndrome in pregnancy: A case report

2020 ◽  
pp. 1753495X2097079
Author(s):  
Niccole Ranaei-Zamani ◽  
Mandeep K Kaler ◽  
Rehan Khan
Keyword(s):  
Case Report ◽  
Case Reports ◽  
Proteus Syndrome ◽  
Cutaneous Lesions ◽  
Genetic Syndrome ◽  
Skeletal Tissue ◽  
First Case ◽  
Large Teaching Hospital ◽  
Clinical Presentations ◽  
In Pregnancy

Proteus syndrome is a rare, multi-system, genetic syndrome characterised by atypical and excessive growth of skeletal tissue. Clinical presentations include abnormal musculoskeletal growth and cutaneous lesions. Due to its rarity, there have been a limited number of published case reports of Proteus syndrome. This is the first case report on the management of Proteus syndrome in pregnancy. We present the case of a pregnant woman with Proteus syndrome in her first pregnancy in a large teaching hospital and discuss the considerations and challenges faced in her antenatal, intrapartum and postnatal care.

Collagenous Sprue: A Rare, Severe Small-Bowel Malabsorptive Disorder

2011 ◽  
Vol 135 (6) ◽  
pp. 803-809
Author(s):  
Xiangrong Zhao ◽  
Rebecca L. Johnson
Keyword(s):  
Celiac Disease ◽  
Medical Literature ◽  
Case Reports ◽  
Disease Entity ◽  
Review Of The Literature ◽  
Molecular Features ◽  
Refractory Sprue ◽  
Exact Etiology ◽  
Sporadic Cases ◽  
Small Intestinal

Abstract Collagenous sprue is a severe malabsorptive disorder, histologically characterized by small intestinal villous and crypt atrophy, and a subepithelial collagen deposit, thicker than 12 µm, that entraps lamina propria cellular elements. Collagenous sprue is a rare disease entity, with only about 60 sporadic cases reported worldwide since it was first described in 1947. Its exact etiology is still under investigation, and its relationship with classic celiac disease and other refractory, spruelike intestinal disorders remains controversial. Two larger-scale studies, in 2009, brought new insights into this elusive, yet emerging, topic. Here, we present a review of the literature on the possible etiology of collagenous sprue, its proposed links to classic celiac disease and to refractory sprue, and its clinical, biochemical, histologic, and molecular features. To our knowledge, all case reports on collagenous sprue in the medical literature to date are summarized.

SP5.1.7 What did we miss? A 5 - year retrospective cohort study calculating the endoscopy miss rate for UGI cancers in a Scottish district general hospital

2021 ◽  
Vol 108 (Supplement_7) ◽  
Author(s):  
M Rashid ◽  
D Clyde ◽  
P J Driscoll ◽  
H Jafferbhoy
Keyword(s):  
General Hospital ◽  
Meta Analysis ◽  
District General Hospital ◽  
Quality Standard ◽  
Health Records ◽  
Male Predominance ◽  
Patient Demographics ◽  
Reporting Tool ◽  
Age Range ◽  
Upper Gastrointestinal

Abstract Aims Despite the widespread use of endoscopy, upper gastrointestinal (UGI) cancers still present at an advanced stage. As survival is closely linked to stage and time of diagnosis, failure to detect subtle precancerous changes at endoscopy may compound poor prognoses. This study calculates the miss rate of UGI cancer over a 5-year period at a district general hospital. Methods All patients diagnosed with UGI cancer between January 2015 - December 2019 were identified from a prospectively collected cancer registry. Electronic health records and Unisoft GI reporting tool were used to identify patient demographics and previous UGI endoscopies. ‘Missed cancers’ were defined as patients who had a normal endoscopy within 3 years of their cancer diagnosis. Results The median age at diagnosis was 72.2 years (age range 24 - 98, n = 408) with a male predominance of 2:1 (66.6% male vs 33.4% female) in keeping with UK statistics. Within this 5 year study period, there were 22 missed cancers (5.4%, n = 408). A year by year break down shows miss rate in 2015 of 3% ( 3,n=100), 2016 of 4.2% (5,n=120), 2017 5.5% (5,n=91), 2018 6.4% (6,n=94) and most recently in 2019 3.2% (3,n=94). Conclusions In 2014, a meta-analysis by S.Menon et al recorded a miss rate of 11.3%. More recently published UK studies report miss rates between 6% - 7.3%, more in keeping with our local rate of 5.4%. Further assessment is required to assess whether the 2017 BSG and AUGIS UGI endoscopy quality standard statement will improve this rate.

Cytomorphology and Histology Correlation of Rosai-Dorfman Disease: A 15-Year Study from a Tertiary Referral Centre in South India

2016 ◽  
Vol 61 (1) ◽  
pp. 55-61 ◽  
Author(s):  
Abid Hussain ◽  
Ashwani Tandon ◽  
Aruna K. Prayaga ◽  
Tara Roshni Paul ◽  
Anukonda M.V.R. Narendra
Keyword(s):  
Hodgkin Lymphoma ◽  
Plasma Cells ◽  
Cervical Lymphadenopathy ◽  
Cost Effective ◽  
Needle Aspiration ◽  
Unknown Etiology ◽  
Tertiary Referral Centre ◽  
Reliable Technique ◽  
Male Predominance ◽  
Rosai Dorfman Disease

Objectives: Rosai-Dorfman disease (RDD) is an uncommon, benign histiocytic disorder of unknown etiology, typically presenting in young adulthood. We highlight the cytomorphology of RDD and correlate it with the histopathology. Study Design: All cases diagnosed as RDD on fine-needle aspiration cytology between January 2001 and June 2015 were included. Clinical details were obtained from medical records. The cytology smears were reviewed along with the histopathology and immunohistochemistry, wherever available. Results: The study included 10 cases ranging in age from 11 to 68 years (median 29). There was a male predominance with a male:female ratio of 1.5:1. The patients commonly presented with bilateral cervical lymphadenopathy. Extranodal involvement was seen in 2 cases in the nose and mandible, respectively. Of these 10 cases, 8 were later biopsied. The cytological features included numerous crescentic histiocytes, emperipolesis, reactive lymphocytes and plasma cells. A histological diagnosis of RDD was made in 7 out of 8 cases, and 1 was diagnosed as Hodgkin lymphoma. Conclusion: FNA represents an efficient, minimally invasive, cost-effective and reliable technique for the diagnosis of RDD and may obviate the need for further biopsy. However, the disease has close differential diagnoses, including Langerhans cell histiocytosis, granulomatous lesions, and Hodgkin lymphoma. Hence, it must be remembered that there can be pitfalls when the diagnosis is made by cytology alone.

scholarly journals Degos disease – malignant atrophic papulosis or cutaneointestinal lethal syndrome: rarity of the disease

2015 ◽  
pp. 141 ◽  
Author(s):  
Eduardo Pirolla ◽  
Felipe Fregni ◽  
Irene Miura ◽  
Antonio Misiara ◽  
Fernando Almeida ◽  
...  
Keyword(s):  
Malignant Atrophic Papulosis ◽  
Degos Disease

scholarly journals Patient with Metastatic Process in the Skeleton of Unknown Etiology

2019 ◽  
pp. 135-142
Author(s):  
Majerníková M ◽  
Sedláček J ◽  
Monhart Z
Keyword(s):  
Multiple Myeloma ◽  
Primary Tumor ◽  
Case Reports ◽  
Unknown Etiology ◽  
Primary Process ◽  
Kidney Tumor ◽  
Complex Treatment ◽  
Benign Process ◽  
Metastatic Process

Bearing bone involvement is a possible sign of generalization variety of cancers. In many cases the process of bearing skeletal diagnosed at the time when the primary tumor is not obvious. The task of the physician is quickly to determine whether it is a benign process or not, and diagnosis of the primary process by which then determine the further progress of therapy. The search for causative bearing shell process, alternatively the primary tumor, is often common practice in the hands of internist. Departments of Clinical Oncology do not have to have sufficient capacity for complex treatment all of newly discovered deposits skeleton whose nature does not have to be always initially clear. Therefore, in the opinion of the authors in these cases, the role of internist as a significant diagnosis very important In our article, we introduce six case reports of patients who were bearing the ambiguous process of investigation of the skeleton in our department in 2014. In accordance with the literature data were represented kidney tumor, multiple myeloma, chondrosarcoma, and in one case the origo malignant process was not found.

scholarly journals PAX2 Mutation-Related Renal Hypodysplasia: Review of the Literature and Three Case Reports

2022 ◽  
Vol 9 ◽  
Author(s):  
Yu-Ming Chang ◽  
Chih-Chia Chen ◽  
Ni-Chung Lee ◽  
Junne-Ming Sung ◽  
Yen-Yin Chou ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Renal Disease ◽  
Case Reports ◽  
Genetic Disorder ◽  
Unknown Etiology ◽  
Related Disorder ◽  
Multiple Systems ◽  
Genetic Sequencing ◽  
Renal Hypodysplasia

Paired box 2 (PAX2)-related disorder is an autosomal dominant genetic disorder associated with kidney and eye abnormalities and can result in end stage renal disease (ESRD). Despite reported low prevalence of PAX2 mutations, the prevalence of PAX2 related disorders may have been underestimated in past studies. With improved genetic sequencing techniques, more genetic abnormalities are being detected than ever before. Here, we report three patients from two families with PAX2 mutations identified within 1 year. Two patients were adults with chronic kidney disease and were followed for decades without correct diagnoses, including one with ESRD who had even undergone kidney transplant. The third patient was a neonate in whom PAX2-related disorder manifested as oligohydramnios, coloboma, and renal failure that progressed to ESRD within 1 year after birth. The phenotypes of PAX2 gene mutation were shown to be highly variable, even within the same family. Early detection promoted genetic counseling and guided clinical management. The appropriate time point for genetic study is an important issue. Clinicians must be more alert for PAX2 mutation when facing patients with congenital kidney and urinary tract anomalies, chronic kidney disease of unknown etiology, involvement of multiple systems, and/or a family history of renal disease.

scholarly journals CURRENT SCENARIOS IN MANAGEMENT OF BUERGER'S DISEASE AT TERTIARY HOSPITAL UTTARAKHAND

2021 ◽  
pp. 106-109
Author(s):  
Sanjeev Prakash ◽  
Keshri Amit ◽  
Nitin Chauhan ◽  
Khem Pal Singh
Keyword(s):  
Systemic Vasculitis ◽  
Strong Association ◽  
Cold Weather ◽  
Thromboangiitis Obliterans ◽  
Unknown Etiology ◽  
Care Hospital ◽  
Buerger’S Disease ◽  
Buerger's Disease ◽  
Middle East Countries ◽  
Tobacco Abuse

Introduction / Background: Buerger's disease is a systemic vasculitis of unknown etiology, strongly associated with tobacco abuse worldwide. Buerger described Thromboangiitis obliterans (TAO) in 1908. High prevalence is found in Asian / Middle East countries. The survival rate of TAO is almost 90%. Presently, total abstinence from tobacco is the mainstay of treatment. Aim: To determine the incidence, progression, etiology, impact of seasonal variations on admission, as well as, presentations, and treatment outcomes at our tertiary health care hospital in Uttarakhand region. Materials: Patients of Buerger's disease admitted to our Institute during January 2015 to December 2019, were included in this study. Methods: Retrospective analysis and study of 142 patients of Buerger's disease admitted at our institute. Results: Most patients were males (97%), with mean age 38.6 years. The incidence & total TAO admission were overall decreasing during these years. Trends showed that eighty two (58%) patients were admitted between months of November to February (cold weather), while least in summers (15%). More than 50% were severe smokers (>30 bidi / cigarette per day). Pain in limbs was present in 77.4% cases. Major amputations were done in (12) 8% cases, while digital / finger / forefoot amputations in 31.69% / 3.52% / 10.58.% cases respectively. Lumbar sympathectomy was done in twelve cases. The median requirement of analgesic (opioids) by intravenous & oral route was 10 & 12 doses initially, & mean VAS score on day-1, 5 & 10 was 6.4, 4.1 & 2.9 respectively. Conclusion: We conclude that incidence of TAO overall shows a decreasing trend, with better health practices. Admissions peak in the cold season, along with complaints related to painful / ulcerated limbs, with a strong association with tobacco abuse. Complete stopping of tobacco can halt further progression of TAO.

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