scholarly journals Keloid-like dermatofibroma

2021 ◽  
Vol 12 (4) ◽  
pp. 460-461
Author(s):  
Fatima Azzahra El Gaitibi ◽  
Soumaya Hamich
Keyword(s):  
Skin Tumor ◽  
Dermatology Department ◽  
Familial History ◽  
Histological Features ◽  
History Of ◽  
Yellow Pigmentation ◽  
Atypical Presentations ◽  
Low Cell Density ◽  
Previous Medical History ◽  
Fibroblastic Proliferation

Dermatofibroma is a common benign skin tumor, mainly occurring in young to middle-aged females. It is frequently localized in the lower extremities. A typical dermatofibroma usually presents itself as a single firm papule or nodule, of variable color, bluish, brownish, or pinkish. Its clinical, dermoscopic, and histological features usually allow easy diagnosis [1]. However, it is possible to observe some variations of these typical features. Keloid-like dermatofibroma is one of these atypical presentations rarely reported in the literature [2]. A 40-year-old patient with no previous medical history presented to our dermatology department with a lumbosacral lesion evolving for several months. A physical examination revealed a firm, well-demarcated, asymptomatic erythematous nodule, 5 × 12 mm in size, localized in the lumbosacral area (Fig. 1). The patient denied any trauma preceding the onset of the lesion. There was no personal or familial history of keloidal scars. A dermoscopic examination revealed erythema, telangiectatic vessels, a shiny white streak, and a brownish-yellow pigmentation (Fig. 2). A biopsy was performed. A histological examination revealed an atrophic epidermis. The dermis contained a fibroblastic proliferation of low cell density haphazardly arranged, located on a fibromatous background (Figs. 3 and 4). Dermatofibroma with a keloidal presentation was the diagnosis.

Clinical Characteristics of Patients Diagnosed with Strongyloidiasis in a United States Urban Outpatient Dermatology Department: A Case Series

2017 ◽  
Vol 1 (3) ◽  
pp. 156-160
Author(s):  
Jacqueline Watchmaker ◽  
Sean Legler ◽  
Dianne De Leon ◽  
Vanessa Pascoe ◽  
Robert Stavert
Keyword(s):  
United States ◽  
Case Series ◽  
The United States ◽  
Screening Tools ◽  
Dermatology Department ◽  
Cutaneous Manifestations ◽  
Serologic Testing ◽  
Patient Reported ◽  
History Of ◽  
Endemic Areas

Background: Although considered a tropical disease, strongyloidiasis may be encountered in non-endemic regions, primarily amongst immigrants and travelers from endemic areas.  Chronic strongyloides infection may be under-detected owing to its non-specific cutaneous presentation and the low sensitivity of commonly used screening tools. Methods: 18 consecutive patients with serologic evidence of strongyloides infestation who presented to a single urban, academic dermatology clinic between September 2013 and October 2016 were retrospectively included.  Patient age, sex, country of origin, strongyloides serology titer, absolute eosinophil count, presenting cutaneous manifestations, and patient reported subjective outcome of pruritus after treatment were obtained via chart review.  Results: Of the 18 patients, all had non-specific pruritic dermatoses, 36% had documented eosinophila and none were originally from the United States. A majority reported subjective improvement in their symptoms after treatment. Conclusion:  Strongyloides infection and serologic testing should be considered in patients living in non-endemic regions presenting with pruritic dermatoses and with a history of exposure to an endemic area.Key Points:Chronic strongyloidiasis can be encountered in non-endemic areas and clinical manifestations are variableEosinophilia was not a reliable indicator of chronic infection in this case series Dermatologists should consider serologic testing for strongyloidiasis in patients with a history of exposure and unexplained pruritus

An audit and insights from clinical exome sequencing in psychiatry: genotype-phenotype correlation

2020 ◽  
Author(s):  
Jayant Mahadevan ◽  
Reeteka Sud ◽  
Ravi Kumar Nadella ◽  
Vani P ◽  
Anand G Subramaniam ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Psychiatric Symptoms ◽  
Pathogenic Variant ◽  
Clinical Exome Sequencing ◽  
Mapt Gene ◽  
Nf1 Gene ◽  
Novel Variant ◽  
History Of ◽  
Atypical Presentations ◽  
Minor Physical Anomalies

BACKGROUND:Psychiatric syndromes have polymorphic symptomatology, and are known to be heritable. Psychiatric symptoms (and even syndromes) often occur as part of the clinical presentation in rare Mendelian syndromes. Clinical exome sequencing reports may help with refining diagnosis and influence treatment decisions, in addition to providing a window into the biology of brain and behaviour. We describe a clinical audit of 12 individuals who sought treatment at our hospital, and for whom targeted sequencing was ordered. Three cases are discussed in detail to demonstrate correlations between genotype and phenotype in the clinic.METHODS:Targeted Next-Generation Sequencing (NGS) was done using Clinical Exome Panel (TruSight One, Illumina) covering coding exons and flanking intronic sequences of 4811 genes associated with known inherited diseases. Variants detected were classified according to the American College for Medical Genetics (ACMG) recommendation for standards of interpretation and reporting of sequence variations.RESULTS:Ten out of twelve cases had at least one pathogenic variant. In one of these cases, we detected a known pathogenic variant in MAPT gene in a suspected FTD case, which helped us to confirm the diagnosis. In another case, we detected a novel variant predicted to be deleterious in NF1 gene. Identification of this mutation suggested a change in treatment for the patient, that was of benefit. The same patient also harboured a novel variant in the TRIO gene. This gene may be involved in biological processes that underlie the patient’s psychiatric illness.CONCLUSIONS:The cases discussed here exemplify different scenarios under which targeted exome sequencing can find meaningful application in the clinic: confirming diagnosis (MAPT variant), or modifying treatment (NF1). We suggest that clinical exome sequencing can be a helpful addition to a clinician’s toolkit when there are expediting factors to consider— such as early-onset, strong family history of mental illness, complex/atypical presentations and minor physical anomalies or neurocutaneous markers.

Shapes of Subcortical Structures in Adolescents With and Without Familial History of Substance Use Disorder

2020 ◽  
Author(s):  
Zhishun Wang ◽  
Diana V. Rodriguez Moreno ◽  
Yael M. Cycowicz ◽  
Lawrence V. Amsel ◽  
Keely Cheslack-Postava ◽  
...  
Keyword(s):  
Substance Use ◽  
Substance Use Disorder ◽  
Subcortical Structures ◽  
Familial History ◽  
History Of

scholarly journals 451. Evaluation of Exposure History in Healthcare Personnel with Coronavirus 2019 Disease

2020 ◽  
Vol 7 (Supplement_1) ◽  
pp. S293-S293
Author(s):  
Sandra Silva ◽  
Thriveen Mana ◽  
Davinder Bhullar ◽  
Beatrice Tabor ◽  
Curtis Donskey
Keyword(s):  
High Risk ◽  
Risk Exposure ◽  
Healthcare Personnel ◽  
Administrative Personnel ◽  
Asymptomatic Carriage ◽  
Moderate Disease ◽  
Control And Prevention ◽  
History Of ◽  
Exposure History ◽  
Atypical Presentations

Abstract Background During the Coronavirus Disease 2019 (COVID-19) pandemic, many healthcare personnel (HCP) have developed COVID-19. However, there is uncertainty regarding whether severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was acquired at work versus in the community. Methods We conducted a cohort study to examine exposure history of personnel with COVID-19 infection or asymptomatic carriage in a VA healthcare system. High-risk exposures were classified based Centers for Disease Control and Prevention criteria. Results Of 578 personnel tested, 49 (8%) had nasopharyngeal swabs with positive PCR results, including 45 (92%) with and 4 (8%) without COVID-19 symptoms. Of the 49 cases, 21 (43%) had a documented high-risk exposure at work, including 14 exposures to COVID-19 patients and 7 exposures to colonized or infected personnel. Exposures to infected patients most often were a result of delays in recognition of COVID-19 due to atypical presentations. Exposures to personnel with COVID-19 most often involved activities such as meals when facemasks were not worn. Most cases occurred among nurses (26, 53%) and administrative personnel (10, 20%); only 3 physicians developed COVID-19. No cases occurred in personnel working on COVID-19 wards. All personnel had mild or moderate disease. Conclusion Forty-three percent of healthcare personnel with COVID-19 had prior high-risk exposures at work. Improved detection of patients with atypical presentations and efforts to reduce high-risk contacts among personnel may reduce the risk for acquisition of SARS-CoV-2. Disclosures All Authors: No reported disclosures

Streptococcus salivarius endogenous endophthalmitis

2021 ◽  
Vol 14 (2) ◽  
pp. e239299
Author(s):  
Carl-Joe Mehanna ◽  
Lea Kallassi ◽  
Ahmad M Mansour ◽  
Rola N Hamam
Keyword(s):  
Opportunistic Infections ◽  
External Source ◽  
Endogenous Endophthalmitis ◽  
Streptococcus Salivarius ◽  
Source Of Infection ◽  
Transcatheter Aortic Valve ◽  
History Of ◽  
Atypical Presentations ◽  
High Index Of Suspicion ◽  
Valve Implantation

We describe a case of endogenous endophthalmitis in an elderly man caused by Streptococcus salivarius. An 88-year-old male patient with diabetes with iron deficiency anaemia and history of transcatheter aortic valve implantation presented with an insidious clinical picture of atraumatic endophthalmitis. No internal or external source could be identified. Diagnostic and therapeutic vitrectomy revealed papillomacular abscess and vitreous fluids grew S. salivarius. Despite lack of an identifiable source of infection, a high index of suspicion for atypical presentations is required in patients with multiple comorbidities that could weaken their immune system towards opportunistic infections. Early detection, microbiological evaluation and prompt treatment are critical to avoid disastrous outcomes. While S. salivarius has been implicated in cases of exogenous endophthalmitis, this is the first reported case of endogenous endophthalmitis due to S. salivarius.

scholarly journals Susac's Syndrome

2011 ◽  
Vol 38 (2) ◽  
pp. 335-337 ◽  
Author(s):  
Kevin Lian ◽  
Rekha Siripurapu ◽  
Robert Yeung ◽  
Julia Hopyan ◽  
Kenneth T. Eng ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
White Matter Hyperintensities ◽  
Brain Biopsy ◽  
High Dose ◽  
Normal Brain ◽  
Left Hand ◽  
Elevated Protein ◽  
Fluid Attenuated Inversion Recovery ◽  
History Of ◽  
Previous Medical History

A 40-year-old woman with no significant previous medical history presented with a three month history of ataxia, confusion, memory difficulties, and headaches. Physical examination revealed numbness in the left hand, but was otherwise unremarkable. Magnetic resonance imaging fluid-attenuated inversion recovery (MRI FLAIR) images demonstrated multiple small white matter hyperintensities, including lesions involving the corpus callosum. There were also deep gray nuclei lesions (Figure 1). The corpus callosum lesions involved the central fibers (Figure 2). Post gadolinium T1 images demonstrated enhancement of some of the lesions as well as extensive perivascular and leptomeningeal enhancement (Figure 3). Extensive infectious serology, autoimmune panel, and paraneoplastic antibodies were negative. Lumbar puncture revealed elevated protein (1116 mg/L), but was otherwise normal. Brain biopsy indicated no apparent pathology. The patient was tentatively diagnosed with acute encephalopathy and treated with high dose steroids seven days after presentation. She was subsequently discharged and was sent for rehabilitation.

scholarly journals Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
P. C. Johannesma ◽  
R. J. A. van Moorselaar ◽  
S. Horenblas ◽  
L. E. van der Kolk ◽  
E. Thunnissen ◽  
...  
Keyword(s):  
Renal Cell Cancer ◽  
Renal Cell ◽  
Cell Cancer ◽  
Positive Family History ◽  
Renal Tumour ◽  
Molecular Testing ◽  
Familial History ◽  
Lung Cysts ◽  
History Of ◽  
Bhd Syndrome

Birt-Hogg-Dubé (BHD) syndrome is a cancer disorder caused by a pathogenicFLCNmutation characterized by fibrofolliculomas, lung cysts, pneumothorax, benign renal cyst, and renal cell carcinoma (RCC). In this case we describe a patient with bilateral renal tumour and a positive familial history for pneumothorax and renal cancer. Based on this clinical presentation, the patient was suspected for BHD syndrome, which was confirmed after molecular testing. We discuss the importance of recognizing this autosomal dominant cancer disorder when a patient is presented at the urologist with a positive family history of chromophobe renal cell cancer or a positive familial history for renal cell cancer and pneumothorax.

Intrauterine supraventricular tachycardia with a familial history of Lown-Ganong-Levine syndrome

1986 ◽  
Vol 7 (1) ◽  
pp. 57-58
Author(s):  
Giuliano Bosi ◽  
Pietro Guerrini ◽  
Gian-Paolo Garani ◽  
Paolo Alboni
Keyword(s):  
Supraventricular Tachycardia ◽  
Familial History ◽  
History Of

Incidence of Mitral Valve Prolapse in Adolescent Scoliosis and Thoracic Hypokyphosis

PEDIATRICS ◽  
1982 ◽  
Vol 70 (3) ◽  
pp. 451-454
Author(s):  
Stephen S. Hirschfeld ◽  
Charles Rudner ◽  
Clyde L. Nash ◽  
Eliezer Nussbaum ◽  
Eleanor M. Brower
Keyword(s):  
Family History ◽  
Mitral Valve ◽  
Mitral Valve Prolapse ◽  
Soft Tissue Defect ◽  
Skeletal Abnormality ◽  
Degree Relative ◽  
Familial History ◽  
High Incidence ◽  
History Of ◽  
Echocardiographic Evidence

Seventy-four patients with adolescent scoliosis underwent cardiac examination and M-mode echocardiography to detect the presence of mitral valve prolapse (MVP). Twenty-one (28%) had echocardiographic evidence of MVP, whereas 18 had auscultatory findings of a nonejection click or late systolic murmur. A subset of 41 patients had a family history of scoliosis and 37% had MVP. The incidence of MVP increased to 41% when a first degree relative, such as a sibling, parent, or offspring, had scoliosis. Thirty-six patients with scoliosis had additional thoracic hypokyphosis (straight back) and 13 (36%) had MVP. The incidence of MVP was 48% when the scoliosis and hypokyphosis were hereditary and increased to 53% when a familial history of skeletal abnormality was present. This study indicates a high incidence of MVP in patients with scoliosis and hypokyphosis, especially when the skeletal abnormality is familial. It suggests that the cardiac and skeletal systems may be affected by a generalized soft-tissue defect.

Sign in / Sign up

Export Citation Format

Share Document