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Query: UMLS:C0004135 (ATM)
 13,001 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

There are several syndromes in which neurological and cutaneous alterations of vascular origin, among other symptoms, occur. The key point of this fact is that these cutaneous signs permit early diagnosis, thus helping in further recognition of more complex syndromes and preventing unnecessary, harmful and costly diagnostic procedures or having to wait until the appearance of neurological signs. Therefore, these diseases should be classified attending to the most notorious vascular lesions they show, though they may show other less frequent cutaneous vascular lesions. In this way, these syndromes can be classified as associated with nevus flammeus (Sturge-Weber, Shapiro-Shulman, Bonnet-Dechaume-Blanc, Cobb, Klippel-Trenaunay, Fegeler, Robert), cavernous hemangiomas (Maffucci, blue-rubber-bleb-nevus, Proteus, Bannayan-Zonana, Riley-Smith, familial cavernous angiomatosis, POEMS syndrome), capillary hemangiomas (Rubinstein-Tayabi, Coffin-Siris, PHACE syndrome), telangiectasia (congenital telangiectatic cutis marmorata, Rendu-Osler-Weber, ataxia telangiectasia, Cockayne, De Sanctis-Cacchione), livedo reticularis (Sneddon, Divry-van-Bogaert), angioqueratoma (Fabry disease, Fucosidosis) and hemangioblastoma (Von Hippel-Lindau). Though we have tried that these vascular lesions should be named as angiomas if they are malformations and hemangiomas if they are benign neoplasias, they are called following morphological aspects rather than other criteria, due to their unknown origin.
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PMID:[Neurocutaneous syndromes with vascular alterations]. 927 70

On occasion the forensic evaluation of individuals who have died suddenly and unexpectedly may reveal intracranial vascular abnormalities such as capillary, venous- and arteriovenous malformations. Such vascular abnormalities may form part of a heterogeneous group of disorders called neurocutaneous syndromes and involve the skin, nervous system and other organ systems. These unusual conditions include Sturge-Weber, Osler-Weber-Rendu, Klippel-Trenaunay, Von Hippel-Lindau, Proteus and Wyburn-Mason syndromes in addition to ataxia telangiectasia. Causes and mechanisms of unexpected death include epileptic seizures, intracranial haemorrhage and thromboses. Differentiating these conditions at autopsy is important because of variable inheritance patterns and occasionally inaccurate clinical classifications. The autopsy evaluation requires review of the medical and family histories, and full external and internal examinations with photographic documentation and histologic sampling of lesions. Formal neuropathology, storage of blood and tissues for molecular studies if required, and liaison with a medical geneticist should be considered.
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PMID:Sudden death and the forensic evaluation of neurocutaneous syndromes. 1973 22