scholarly journals Atrophoderma vermiculatum: clinical presentation features, differential diagnosis and treatment

2020 ◽  
Vol 23 (2) ◽  
pp. 115-118
Author(s):  
O. A. Vishnevskaya ◽  
L. M. Shnakhova
Keyword(s):  
Differential Diagnosis ◽  
Skin Disorder ◽  
Congenital Heart ◽  
Congenital Abnormalities ◽  
Clinical Presentation ◽  
Heart Defects ◽  
Hereditary Diseases ◽  
Facial Skin ◽  
Clinical Presentations ◽  
Skin Zone

Atrophoderma vermiculata is a rare, benign, follicular dermatosis localized in an esthetically important facial skin zone, which results in superficial scars formation. The disease usually occurs at the age of 512 years and may be autosomal-dominantly inherited. This type of dermatosis may be associated with other congenital abnormalities and some hereditary diseases, such as Marfan syndrome, neurofibromatosis, congenital heart defects, and mental retardation similar to Downs syndrome. The authors also analyze the typical clinical presentations of atrophoderma vermiculata, from their own clinical experience, conduct a detailed analysis of differential diagnosis with other dermatoses, and provide contemporary therapeutic methods and approaches to this skin disorder.

Ebstein’s Anomaly

2007 ◽  
Vol 26 (3) ◽  
pp. 197-208 ◽  
Author(s):  
Sarah Pashia
Keyword(s):  
Heart Failure ◽  
Tricuspid Valve ◽  
Congenital Heart ◽  
Clinical Presentation ◽  
Ebstein’S Anomaly ◽  
Ebstein's Anomaly ◽  
Clinical Presentations ◽  
Wide Range ◽  
Pathologic Findings ◽  
The Right

EBSTEIN’S ANOMALY IS A RARE congenital heart defect characterized by displacement of the tricuspid valve leaflets into the right ventricle.1The defect was first described by Wilhelm Ebstein in 1866.2This anomaly of the tricuspid valve causes the right atrium to thin and become enlarged, resulting in a wide range of clinical presentations.3Clinical presentation depends on the severity of the pathologic findings, which vary considerably from patient to patient. Some infants may present with cyanosis, respiratory distress, heart failure, and even death, whereas others may not present with mild symptoms until adolescence or adulthood.

22q12.3-q13.1 microdeletion including SOX10 causes atypical Waardenburg syndrome

2020 ◽  
pp. 112067212094435
Author(s):  
Wenqiu Zhang ◽  
Lirong Xiao ◽  
Bingjie Chen ◽  
Yingwen Xu ◽  
Naihong Yan
Keyword(s):  
Congenital Heart Disease ◽  
Laboratory Tests ◽  
Congenital Heart ◽  
Heart Defects ◽  
Male Infant ◽  
Routine Laboratory ◽  
Waardenburg Syndrome ◽  
Whole Exome ◽  
Clinical Presentations ◽  
Severe Congenital Heart Disease

Purpose: To identify disease associated mutations in a male infant with congenital heart defects and heterochromia. Methods: A detailed clinical examination and routine laboratory tests were performed on the patient. We applied whole exome sequencing to identify the causal mutation on the proband and other family members. Results: The patient presented with severe congenital heart disease, strabismus, and pigment disturbances of the iris. We identified a deletion of 1.99 megabase [arr[hg19]22q12.3-13.1 (chr22:36656004-38643920) *1], including SOX10 and 13 RefSeq genes on this patient, which was associated with atypical Waardenburg syndrome. Conclusion: Our results suggest that a deletion of 1.99 megabase (including SOX10) acts as a dominant pathogenic variant on the clinical presentations of this patient with atypical Waardenburg syndrome.

scholarly journals Perinatal cardiology: the present and the future. Part I: congenital heart disease

2019 ◽  
Vol 64 (3) ◽  
pp. 5-10 ◽  
Author(s):  
E. L. Bokerija
Keyword(s):  
Congenital Heart Disease ◽  
Congenital Heart ◽  
Congenital Abnormalities ◽  
Heart Defects ◽  
Heart Rhythm ◽  
Care Level ◽  
Pregnancy And Childbirth ◽  
Existing Problems ◽  
Stage Of Development ◽  
Heart Rhythm Disorders

The article discussesthe currentstate of the care level for fetuses, newborns and children with congenital abnormalities of the cardiovascular system. There are considered the features of prenatal diagnostics of heart defects and aspects of the management of pregnancy and childbirth of women with the specified pathology in the fetus. The authors made the analysis of the existing problems in the diagnosis and treatment of congenital heart defects and heart rhythm disorders in children. The article substantiates the introduction of the perinatal cardiology concept and formulates the main issues to be solved at this stage of development.

scholarly journals Ileum duplex: egy ritka elváltozás okozta differenciáldiagnosztikai kihívás

2018 ◽  
Vol 159 (52) ◽  
pp. 2217-2221
Author(s):  
Balázs Simon ◽  
István Berki ◽  
Huba Zoltán Szabó ◽  
Zsolt Virág ◽  
Péter Lukovich
Keyword(s):  
Differential Diagnosis ◽  
Congenital Abnormalities ◽  
Clinical Presentation ◽  
Pathological Examination ◽  
Ileocecal Resection ◽  
History Taking ◽  
Abdominal Symptoms ◽  
Long Line ◽  
Mri Scans ◽  
Ct And Mri

Abstract: Gastrointestinal tract duplications (GSD) are rare congenital abnormalities. Eighty percent of GSDs are diagnosed before the age of two. These lesions can be seen anywhere from the oral cavity to the anus, but ileum is the most commonly affected site. Their clinical presentation is widely variable and unspecific, making the differential diagnosis really hard. Thus despite performing a long line of radiological scans, the diagnosis can be made during a surgery and by the pathologist. A 23-year-old female patient presented at the emergency room (ER) with abdominal cramps. Examinations revealed an unidentified intraabdominal mass. This could not been identified through the next years despite having tons of examinations: intravaginal and abdominal ultrasonographies, CT and MRI scans, colonoscopies, laparoscopies, surgical, gynecological and gastroenterological visits. Amongst the diagnoses were: ovarian cyst, bowel enlargement, Crohn’s disease. Due to the latter, she received therapy which temporarily eased her symptoms. But after these, because of abdominal pain, fever and an ultrasonography that showed an intramural abscess in her abdomen, she went through a surgery having an ileocecal resection. Pathological examination showed a duplication of the ileum that might have caused her symptoms all through the years. Despite facing this rare abnormality, it is important to keep this in mind in differentiating abdominal symptoms. It is true that in no case there could be a diagnosis made without surgery, it raises attention to the importance of precise medical history taking and also cooperation between specialties. Orv Hetil. 2018; 159(52): 2217–2221.

scholarly journals Do you know this syndrome?

2013 ◽  
Vol 88 (4) ◽  
pp. 664-666 ◽  
Author(s):  
Rogerio Nabor Kondo ◽  
Ligia Márcia Mario Martins ◽  
Vivian Cristina Holanda Lopes ◽  
Rodrigo Antonio Bittar ◽  
Fernanda Mendes Araújo
Keyword(s):  
Differential Diagnosis ◽  
Short Stature ◽  
Noonan Syndrome ◽  
Congenital Heart ◽  
Heart Defects ◽  
Facial Dysmorphism ◽  
Genetic Syndromes ◽  
Cardiac Defects ◽  
Important Differential Diagnosis ◽  
Dental Malocclusion

Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndrome that presented typical facies, cardiac defects (pulmonary dilatation and mitral regurgitation), dental malocclusion, micrognatism, short stature and a certain degree of learning disability.

scholarly journals Williams-Beuren Syndrome:A Rare Case from Western India

2016 ◽  
Vol 1 (1) ◽  
pp. 1
Author(s):  
Pankaj K. Gadhia ◽  
Salil N. Vaniawala
Keyword(s):  
Williams Syndrome ◽  
Congenital Heart Defects ◽  
Rare Case ◽  
Congenital Heart ◽  
Clinical Presentation ◽  
Heart Defects ◽  
Genetic Disorder ◽  
Western India ◽  
Renal Anomalies ◽  
Live Births

Williams-Beuren Syndrome (WBS) also known as Williams Syndrome (WS) is a rare multisystem genetic disorder having incidence of 1 in 20,000 to 50,000 live births. WS caused by deletion of 26 - 28 contiguous genes including elastin (ELN) on chromosome 7q11.23. It is characterized by congenital heart defects, skeletal and renal anomalies. We report herein two rare cases of WS (One male and one female) from Western India varying clinical presentation. The confirmation was carried out by cytogenetic analysis and FISH test.

Clinical Profile and Etiological Agents Involved in Pediatric Infective Endocarditis

2021 ◽  
Vol 15 (10) ◽  
pp. 2787-1089
Author(s):  
Muhammad Imran ◽  
Muhammad Naveed ◽  
Fazal ur Rehman ◽  
Khurram Shahnawaz ◽  
Farhan Zahoor ◽  
...  
Keyword(s):  
Infective Endocarditis ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Clinical Presentation ◽  
Heart Defects ◽  
Underlying Disease ◽  
Etiological Agent ◽  
Coagulase Negative Staphylococcus ◽  
Shortness Of Breath ◽  
Etiological Agents

Objective: To find out clinical profile and etiological agents involved in Pediatric infective endocarditis. Study Design: A descriptive observational study. Place and Duration of the Study: The Department of Pediatrics, Sughra Shafi Medical Complex, Sahara Medical College, Narowal, Pakistan from April 2017 to March 2021. Material and Methods: A total of 195 children of both genders aged below 14 years and having endocarditis were enrolled. Endocarditis was labeled as per modified Duke’s criteria. Data was entered and analyzed using SPSS version 26.0. Quantitative data like age was represented as mead and standard deviation. Qualitative data like gender, area of residence, clinical presentation, types of isolated microorganisms and underlying disease were shown as frequencies and percentages. Results: Out of a total of 195 children, 124 (63.6%) were male. Overall, mean age was noted to be 5.48+2.1 years. Fever was the commonest type of clinical presentation noted among 148 (75.9%) children followed by shortness of breath 101 (51.8%) and chest pain/discomfort 48 (24.6%). Congenital heart defects were the commonest form of underlying disease observed in 95 (48.7%) children. Blood culture findings revealed 112 (57.4%) samples to produce no growth while coagulase negative staphylococcus was the commonest etiological agent noted in 37 (19.0%) children. Conclusion: Majority of the children with infective endocarditis were male. Most common types of clinical presentation were fever and shortness of breath. Congenital heart defects formed major chunk of underlying disease. Coagulase negative staphylococcus was found to be the most common etiological agent. Keywords: Infective endocarditis, fever, shortness of breath, congenital heart defects.

scholarly journals TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations

2019 ◽  
Vol 62 (6) ◽  
pp. 103534 ◽  
Author(s):  
Marcello Niceta ◽  
Sabina Barresi ◽  
Francesca Pantaleoni ◽  
Rossella Capolino ◽  
Maria Lisa Dentici ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Term Survival ◽  
Long Term Survival ◽  
Pathogenetic Considerations
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