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CADASIL—an unusual manifestation with prominent cutaneous involvement

Ratzinger, G. ; Ransmayr, G. ; Romani, N. ; Zelger, B.

British journal of dermatology (1951), 2005-02, Vol.152 (2), p.346-349 [Periódico revisado por pares]

Oxford, UK: Blackwell Science Ltd

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Título:
CADASIL—an unusual manifestation with prominent cutaneous involvement
Autor: Ratzinger, G. ; Ransmayr, G. ; Romani, N. ; Zelger, B.
Assuntos: Biological and medical sciences ; CADASIL ; CADASIL - complications ; CADASIL - diagnosis ; CADASIL - pathology ; Dermatology ; Hemorrhage - etiology ; Humans ; Male ; Medical sciences ; Middle Aged ; Skin - blood supply ; Skin - ultrastructure ; Skin Diseases, Vascular - etiology ; Skin Diseases, Vascular - pathology
É parte de: British journal of dermatology (1951), 2005-02, Vol.152 (2), p.346-349
Notas: Conflict of interest: None declared.
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Descrição: Summary Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucencephalopathy (CADASIL) is a rare vascular disorder affecting mainly the central nervous system with transient ischaemic attacks, strokes, psychiatric symptoms and dementia. It is a progressive familial disease owing to mutations in the Notch3 gene. Clinically apparent skin involvement is usually absent. Electron microscopy of seemingly uninvolved skin reveals characteristic granular deposits in the basal lamina of vessels and adnexals. We report on a case of CADASIL with generalized haemorrhagic macules and patches. Typical neurological symptoms as well as classical findings in histopathology and electron microscopy confirmed the diagnosis. Immunofluorescence showed an increased number of vessels with walls markedly thickened by deposits of fibrin, complement and immunoglobulins. This method could serve as an additional method for accurate diagnosis of CADASIL.
Editor: Oxford, UK: Blackwell Science Ltd
Idioma: Inglês

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CADASIL—an unusual manifestation with prominent cutaneous involvement

Ratzinger, G. ; Ransmayr, G. ; Romani, N. ; Zelger, B.

Oxford, UK: Blackwell Science Ltd

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