Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Acne vulgaris, a common dermatological condition that affects most adolescents and young adults, can indicate an underlying pathology if present prematurely in mid-childhood. Premature acne can be caused by premature adrenarche secondary to non-classical congenital adrenal hyperplasia (NC-CAH), a condition arising from 21-hydroxylase deficiency. This report describes a pair of monozygotic twin brothers with identical premature onset of acne, who were found to have an identical homozygous mutation in the promoter region of the CYP21A2 gene. While it is widely known that NCCAH is associated with genetic changes, the drive behind onset of adrenarche are widely unknown. As such, this report provokes thoughts on whether adrenarche could be influenced by adrenal genetic polymorphisms.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/ajd.14117 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Premature monozygotic twins with congenital diaphragmatic hernia: a case report.
Sudan J Paediatr
January 2025
Department of Pediatric Surgery, Faculty of Medicine, Necmettin Erbakan University, Konya, Turkey.
Congenital diaphragmatic hernia (CDH) is a severe developmental anomaly with variable clinical outcomes, influenced by factors such as liver herniation, pulmonary hypertension and associated anomalies. While familial clustering of CDH has been described, its occurrence in monozygotic twins remains rare. We report the case of premature monozygotic female twins diagnosed prenatally with left-sided CDH, delivered at 30 weeks and 1 day of gestation due to maternal haemolysis, elevated liver enzyme levels and low platelet levels syndrome.
View Article and Find Full Text PDFMultimodal Therapy Achieves Secondary Prevention LDL-C Targets in LDL-Receptor Null Homozygous Familial Hypercholesterolemia.
JACC Case Rep
August 2025
Division of Endocrinology and Metabolism, University of British Columbia, Vancouver, Canada. Electronic address:
Background: Homozygous familial hypercholesterolemia is a rare condition most commonly associated with pathogenic variants in the LDLR gene that leads to mortality before age 20 if not treated.
Case Summary: A 4-year-old boy of Lebanese origin with multiple skin xanthomas was found to have untreated low-density lipoprotein cholesterol (LDL-C) of 1005 mg/dL (26 mM). Gene analysis revealed biallelic identical LDLR variants with <2% residual LDLR activity (LDLR-null).
High-fidelity and differential nonsense suppression in live cells and a frontotemporal dementia allele with human transfer RNAs.
Nucleic Acids Res
July 2025
Department of Biochemistry, The University of Western Ontario, London, Ontario, N6A 5C1, Canada.
Nonsense mutations generate premature termination codons (PTCs) that are responsible for 11% of genetic disease alleles. The arginine (Arg, CGA) to stop (UGA) mutation is the most common PTC. Humans encode >600 transfer RNA (tRNA) genes with many identical and similar copies.
View Article and Find Full Text PDFParallel Phase II Clinical Trials of Selinexor in Patients With Advanced Thymoma and Thymic Carcinoma.
JTO Clin Res Rep
September 2025
Department of Oncology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Introduction: Thymic epithelial tumors (TETs) are rare and include thymomas (T) and thymic carcinomas (TC). Effective treatment options are needed for patients with progressive disease after platinum-based chemotherapy. Preclinical studies demonstrated antitumor activity of selinexor, an inhibitor of the nuclear receptor exportin-1 (XPO1/CRM1), supporting the clinical development of XPO1-targeted therapy for the treatment of TETs.
View Article and Find Full Text PDFPathophysiology of Achalasia.
Digestion
July 2025
Division of Gastroenterology, Washington University School of Medicine, St. Louis, Missouri, USA.
Background: Achalasia is a rare primary esophageal motility disorder of the esophageal smooth muscle, characterized by abnormal relaxation of the lower esophageal sphincter and associated with abnormal, spastic, or absent esophageal body peristalsis.
Summary: The primary pathophysiological defect is abnormal esophageal inhibitory nerve function from neuronal death in the esophageal neuronal plexuses and ganglia that control esophageal smooth muscle peristalsis. This is a consequence of an autoimmune cytotoxic insult from molecular mimicry following an intercurrent viral infection, typically herpes simplex virus, varicella zoster virus, human papillomavirus, measles virus, and even the COVID-19 virus.