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Congenital Bullous Syphilis: A Case Report from Italy and a Comprehensive Literature Review.
Medicina (Kaunas)
January 2025
Department of Health Science, University of Eastern Piedmont, 28100 Novara, Italy.
Congenital syphilis remains a significant global health concern, with severe morbidity and mortality if undiagnosed and untreated. Although many infants appear asymptomatic at birth, subtle clinical signs-including bullous lesions (congenital bullous syphilis, also known as pemphigus syphiliticus)-may facilitate early detection. Recognizing this rare manifestation is crucial for timely intervention, reducing serious outcomes.
View Article and Find Full Text PDFCase Report: Alpha6 Integrin Disorder Presenting in Childhood with Nail Dysplasia and Onycholysis But No History of Fragile or Bullous Skin Changes.
Glob Med Genet
December 2024
Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, United States.
We report a 7-year-old girl born with pyloric atresia but without congenital epidermolysis bullosa or skin fragility. Nail dysplasia developed at age 8 months and throughout childhood she suffered from onycholysis and mild nail hypertrophy. Whole-exome sequencing demonstrated biallelic mutations in alpha6 integrin (ITGA6): p.
View Article and Find Full Text PDFBullous Lung Disease in Turner Syndrome: An Underrecognized Comorbidity?
Am J Med Genet A
February 2025
Divisions of Medical Genetics and Cardiology, University of Nebraska Medical Center, Omaha, Nebraska, USA.
Article Synopsis
- The text discusses a rare case of a female patient with Turner syndrome (TS) who faced congenital pulmonary issues, including emphysema and pulmonary hypertension, developing over time.
- The patient experienced significant health challenges from infancy through adulthood, including heart dysfunction, surgical interventions, and multiple medical treatments.
- The study suggests that altered lymphatic drainage in utero may lead to lung abnormalities in TS patients, advocating for continuous monitoring and management of potential cardiopulmonary complications.
Bevacizumab and External Beam Radiation Therapy for Diffuse Choroidal Hemangioma in Sturge-Weber Syndrome: A Case Report.
Case Rep Ophthalmol
August 2024
Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, USA.
Introduction: Sturge-Weber syndrome, a congenital vascular disorder, is associated with diffuse choroidal hemangiomas in which the current mainstay of treatment is radiation therapy, including external beam radiation therapy (EBRT). The purpose of this case report was to present a novel combination of treatments for diffuse choroidal hemangioma.
Case Presentation: A 37-year-old man with a history of Sturge-Weber-associated glaucoma presented with an acute-onset decrease in vision in the right eye.
Rapid Resolution of Serous Retinal Detachment in Morning Glory Disc Anomaly With Oral Acetazolamide Treatment.
Ophthalmic Surg Lasers Imaging Retina
July 2024
Morning glory disc anomaly is a rare congenital anomaly affecting the optic disc and is frequently associated with retinal detachment. This report presents a unique case of a 10-year-old boy with morning glory disc anomaly and serous retinal detachment, treated with oral acetazolamide. Remarkably, half of the retina exhibiting bullous detachment was reattached leading to full recovery of vision within a few days after starting acetazol-amide treatment.
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