Generalized essential telangiectasia
نویسندگان
چکیده
منابع مشابه
[Essential progressive telangiectasia].
by well-established clinical criteria.5 The abnormality is located on chromosome 17 and exhibits autosomal dominant inheritance. Most cases of Sturge-Weber syndrome are sporadic, but a familial distribution has been reported. As a result, the syndrome is believed to follow paradominant inheritance, such that the individual is heterozygotic for this inherited characteristic and phenotypically no...
متن کاملEssential telangiectasia in an infant: a diagnosis to be considered.
Essential generalized telangiectasia as the result of postcapillary venule dilatation, is characterized by the sudden development of generalized telangiectasias, sometimes involving the conjunctiva. A few pediatric cases have been reported. The main condition in the differential diagnosis includes syndromes with telangiectasia such as hereditary hemorrhagic telangiectasia of Rendu-Osler, unilat...
متن کاملAtaxia-telangiectasia
Objective Ataxia-telangiectasia (AT) is a rare, severe, and ineluctably progressive multisystemic neurodegenerative disease. Variant AT phenotypes have been described in patients with mildand late-onset neurologic deterioration and atypical features (dystonia and myoclonus). We report on the clinical characteristics and transcriptome profile of patients with a typical AT presentation and genoty...
متن کاملAtaxia-telangiectasia.
Ataxia-telangiectasia is a complex syndrome that includes a very high cancer risk in children with a progressive cerebellar ataxia, the onset of which occurs in early infancy. Ocular telangiectasiae often do not appear until several years after the ataxia. The most common type of malignancy is lymphoma, usually of the B-cell type. Leukemias also occur. Failure to diagnose ataxia-telangiectasia ...
متن کاملMouse model for hereditary hemorrhagic telangiectasia has a generalized vascular abnormality.
BACKGROUND Mutations in endoglin or activin like kinase-1, both involved in the endothelial transforming growth factor-beta signaling pathway, cause the autosomal dominant bleeding disorder hereditary hemorrhagic telangiectasia. We and others have reported mouse models for this disease that share the characteristic phenotype of dilated vessels and sporadic hemorrhage. The reasons for the variab...
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ژورنال
عنوان ژورنال: Dermatology Online Journal
سال: 2018
ISSN: 1087-2108
DOI: 10.5070/d32412042395