Skin and nail lesions are very rare in Marfan's syndrome. We reported a 14-year-old boy who presented with pterygium in the nails of both the upper and lower limbs with chest deformity along with other features of Marfan's syndrome. Histopathological findings revealed hyperkeratosis with a scant perivascular inflammatory infiltrate. It was not clear whether this case is the first presentation of pterigium in Marfan's syndrome or congenital lichen planus. To our knowledge, this kind of feature is the first Marfan's syndrome case of its kind.
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http://dx.doi.org/10.1111/j.1346-8138.2002.tb00241.x | DOI Listing |
Pediatr Int
January 2025
Department of Medical Genetics, Sakakibara Heart Institute, Tokyo, Japan.
Eur Heart J Imaging Methods Pract
January 2025
Department of Radiology, University of Michigan, 1500 E Medical Center Drive, CVC 5581, Ann Arbor, MI 48109, USA.
Aims: Aortic wall stiffening in ascending thoracic aortic aneurysm (aTAA) is common. However, the spatial and temporal relationships between stiffness, aortic size, and growth in aTAA remain unclear.
Methods And Results: In this single-centre retrospective study, we utilized vascular deformation mapping to extract multi-directional aortic motion, aortic distensibility, and aortic growth in a multi-planar fashion from multi-phasic ECG-gated computed tomography angiograms.
Int J Mol Sci
December 2024
Department of Vascular Surgery, RWTH Aachen University Hospital, 52074 Aachen, Germany.
Thoracoabdominal aortic aneurysms (TAAAs) are rare but serious conditions characterized by dilation of the aorta characterized by remodeling of the vessel wall, with changes in the elastin and collagen content. Individuals with Marfan syndrome have a genetic predisposition for elastic fiber fragmentation and elastin degradation and are prone to early aneurysm formation and progression. Our objective was to analyze the medial collagen characteristics through histological, polarized light microscopy, and electron microscopy methods across the thoracic and abdominal aorta in twenty-five patients undergoing open surgical repair, including nine with Marfan syndrome.
View Article and Find Full Text PDFAnn Thorac Surg Short Rep
September 2024
Department of Cardiovascular Surgery, Tokyo Women's Medical University, The Heart Institute of Japan, Tokyo, Japan.
An implantable ventricular assist device became smaller and has been used for small body size patients. However, it is still challenging to determine whether it is implantable for pediatric patients. The preoperative computed tomography virtual simulation provided spatial information among the pump, intracardiac structures, and extracardiac structures, which was very useful to assess the implantability for borderline children.
View Article and Find Full Text PDFAnn Thorac Surg Short Rep
June 2024
Department of Cardiothoracic Surgery, St Francis Hospital, Roslyn, New York.
We present the case of a 72-year-old man diagnosed with an aortic root aneurysm who was then diagnosed with Marfan syndrome. The patient suffered an intraoperative type B dissection with lower extremity malperfusion managed with an axillary-bifemoral extra-anatomic bypass.
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