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Treatment of hereditary hemorrhagic telangiectasias with sclerotherapy: A case series.
Am J Otolaryngol
December 2024
Department of Otolaryngology - Head and Neck Surgery, Washington University School of Medicine, 660 S Euclid Ave, CB 8115, St. Louis, MO 63110, USA; Clinical Outcomes Research Office, Department of Otolaryngology-Head and Neck Surgery, Washington University School of Medicine, 660 S Euclid Ave, CB 8115, St. Louis, MO 63110, USA. Electronic address:
Background: Hereditary hemorrhagic telangiectasia (HHT) is characterized by abnormal blood vessel formation. One treatment for HHT-related arteriovenous malformations (AVMs) is sclerotherapy, which collapses the blood vessels by irritating the endothelial lining.
Methods: This case series describes two HHT patients undergoing in-office sodium tetradecyl sulfate sclerotherapy for non-nasal telangiectasias and AVMs.
Pulmonary arteriovenous malformations (PAVMs) are abnormal vascular connections between the pulmonary arteries and pulmonary veins. Despite their relatively uncommon incidence, PAVMs should be considered in the differential diagnosis of children presenting with cyanosis due to the life-threatening complications posed by paradoxical emboli. The primary management approach involves eliminating the abnormal connections, either through surgical or endovascular methods.
View Article and Find Full Text PDFArticle Synopsis
- The study aimed to create a multi-functional imaging system using optical coherence tomography/angiography (OCT/OCTA) to examine skin lesions caused by Hereditary Hemorrhagic Telangiectasia (HHT).
- Researchers imaged skin lesions on five individuals, measuring vascular density and diameter to assess both the lesions and surrounding healthy tissue, including a patient who received anti-angiogenic therapy.
- Results showed that OCTA can effectively and non-invasively monitor HHT lesions over time, revealing significant differences in vascular metrics between affected and healthy areas, which could enhance understanding and treatment of HHT.
Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single-Center Report.
Pediatr Dermatol
November 2024
Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark.
Article Synopsis
- Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare genetic condition affecting primarily women, linked to mutations in the PORCN gene, that impacts the skin, bones, and eyes.
- A study at Aarhus University Hospital examined four confirmed cases of FDH, revealing typical symptoms like skin atrophy, limb abnormalities, and eye issues, as well as identifying new genetic variants.
- The prevalence of FDH in Western Denmark was estimated at 1.6 cases per million, highlighting the rarity and complexity of the disorder, which necessitates comprehensive medical collaboration for effective diagnosis and care.
Juvenile dermatomyositis with Anti-SAE antibodies in a Moroccan child associated with pseudo-angioedema: a case report.
Pediatr Rheumatol Online J
May 2024
Dermatology department, CHU SOUSS-MASSA, Agadir, Morocco.
Article Synopsis
- Juvenile Dermatomyositis (JDM) is an autoimmune condition in children that causes inflammation in muscles and skin, and identifying specific autoantibodies can help classify its subtypes and predict outcomes.
- A case study describes a 5-year-old Moroccan boy with JDM who exhibited symptoms such as dysphagia, facial erythema, muscle weakness, and characteristic skin rashes, along with positive anti-SAE antibodies, a rare finding.
- Treatment involved high-dose methylprednisolone followed by a tapering dose of oral prednisone, highlighting the need for targeted therapies based on specific antibody presence in JDM.
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