Histopathologic Features of Intracranial Vascular Involvement in Fibromuscular Dysplasia, Ehlers-Danlos Type IV, and Neurofibromatosis I
نویسندگان
چکیده
منابع مشابه
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.
BACKGROUND Ehlers-Danlos syndrome type IV, the vascular type, results from mutations in the gene for type III procollagen (COL3A1). Affected patients are at risk for arterial, bowel, and uterine rupture, but the timing of these events, their frequency, and the course of the disease are not well documented. METHODS We reviewed the clinical and family histories of and medical and surgical compl...
متن کاملEhlers-Danlos syndrome type IV
Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed ...
متن کاملEhlers-Danlos syndrome versus cleidocranial dysplasia
Dear Sir, The early identification of hereditary syndromes is essential for planning medical and surgical interventions for reducing the risk of complications [1]. Unfortunately, clinical phenotypes of hereditary syndromes in the first years of life and in mild cases are often poorly characterized. Some disease symptoms are also common to several different genetic conditions. Cleidocranial dysp...
متن کاملVascular Ehlers-Danlos Syndrome Without the Characteristic Facial Features
As a type of Ehlers-Danlos syndrome (EDS), vascular EDs (vEDS) is typified by a number of characteristic facial features (eg, large eyes, small chin, sunken cheeks, thin nose and lips, lobeless ears). However, vEDs does not typically display hypermobility of the large joints and skin hyperextensibility, which are features typical of the more common forms of EDS. Thus, colonic perforation or ane...
متن کاملTransforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome.
BACKGROUND Vascular Ehlers-Danlos syndrome (VEDS) causes reduced life expectancy because of arterial dissections/rupture and hollow organ rupture. Although the causative gene, COL3A1, was identified >20 years ago, there has been limited progress in understanding the disease mechanisms or identifying treatments. METHODS AND RESULTS We studied inflammatory and transforming growth factor-β (TGF-...
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ژورنال
عنوان ژورنال: Journal of Neuropathology & Experimental Neurology
سال: 2014
ISSN: 0022-3069,1554-6578
DOI: 10.1097/nen.0000000000000113