AI Article Synopsis
- Dyskeratosis congenita (DC) is a rare inherited disorder characterized by leukoplakia of mucous membranes, nail dystrophy, and skin pigmentation, primarily affecting males.
- A 22-year-old man presented with symptoms of DC, including oral leukoplakia, nail issues, and distinct skin findings such as poikilodermia, webbed neck, and low posterior hairline.
- Additional medical examinations revealed complications such as esophageal stricture, Chiari 1 malformation, and the absence of the inferior vena cava.
Article Abstract
Dyskeratosis congenita (DC) is a rare inherited disorder that is usually seen in males, consisting of the triad of leukoplakia of the mucous membranes, nail dystrophy, and skin pigmentation. We present a case of DC associated with esophageal stricture, Chiari 1 malformation, absence of inferior vena cava, webbed neck, and low posterior hair neck. A 22-year-old man attended our clinic with leukoplakia of the oral mucosa and nail dystrophy. In addition to these findings, poikilodermia on his neck and upper and lower extremities, bilateral ectropion, webbed neck, and low posterior hair neck was detected on dermatologic examination. Esophagoscopy demonstrated esophageal stricture. Cranial magnetic resonance imaging showed tonsillar herniation, and thoracoabdominal computed tomography revealed absence of inferior vena cava.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1365-4632.2008.03525.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A free association semantic task for fNIRS-based perinatal depression assessment.
Front Neurol
January 2025
National Clinical Research Center for Obstetric & Gynecologic Diseases Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Perinatal depression (PD) is a highly prevalent psychological disorder that has a detrimental effect on infant and maternal physical and mental health, but effective and objective assessment of PD is still insufficient. In recent years, the functional near-infrared spectroscopy (fNIRS) has been acknowledged as an effective non-invasive tool for clinical assessment of depression. This study proposed a free association semantic task (FAST) paradigm for fNIRS-based assessment of PD.
View Article and Find Full Text PDFA systematic review of cognitive telerehabilitation in patients with cognitive dysfunction.
Front Neurol
January 2025
International St. Mary's Hospital, Catholic Kwandong University College of Medicine, Incheon, Republic of Korea.
Introduction: One of the possible treatment options for patient with cognitive dysfunction is cognitive telerehabilitation. Previous systematic reviews on cognitive telerehabilitation have focused on specific disease groups and the analysis of intervention methods did not differentiate between traditional face-to-face cognition treatment and usual care. In this systematic review, we aim to analyze randomized controlled trials (RCTs) that compare telerehabilitation with face-to-face treatment or usual care for improving cognitive function in elderly individuals with cognitive dysfunction or patients with acquired brain injury.
View Article and Find Full Text PDFThe efficacy and safety of half-dose glucocorticoids combined with rituximab versus high-dose glucocorticoids for initial treatment of minimal change disease: a single-center experience.
Front Pharmacol
January 2025
Department of Nephrology, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, Jiangxi, China.
Background: Minimal change disease (MCD) is a podocytopathy more commonly seen in children, but it also accounts for 10%-25% of adult nephrotic syndrome. High-dose oral glucocorticoids were recommended for initial treatment of MCD. However, long-term use of systemic corticosteroids is associated with significant adverse events, such as steroid-induced diabetes and infections.
View Article and Find Full Text PDFThe effects of heritage multilingualism on foreign language learning: a comparison of children with typical language development and developmental language disorder.
Front Psychol
January 2025
Institute for Language Sciences, Utrecht University, Utrecht, Netherlands.
Introduction: Both multilingualism and developmental language disorder (DLD) may be associated with inferior performance in the majority language, albeit for different reasons. At the same time, there is a growing body of evidence that multilingualism may have a positive effect on foreign language performance. This study tests the hypothesis that the positive effects of multilingualism on foreign language learning may be smaller in children with DLD compared to their multilingual peers with typical language development.
View Article and Find Full Text PDFStatic and dynamic brain functional connectivity patterns in patients with unilateral moderate-to-severe asymptomatic carotid stenosis.
Front Aging Neurosci
January 2025
Department of Radiology, The Third Affiliated Hospital of Zunyi Medical University (The First People's Hospital of Zunyi), Zunyi, Guizhou, China.
Background And Purpose: Asymptomatic carotid stenosis (ACS) is an independent risk factor for ischemic stroke and vascular cognitive impairment, affecting cognitive function across multiple domains. This study aimed to explore differences in static and dynamic intrinsic functional connectivity and temporal dynamics between patients with ACS and those without carotid stenosis.
Methods: We recruited 30 patients with unilateral moderate-to-severe (stenosis ≥ 50%) ACS and 30 demographically-matched healthy controls.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!