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Unilateral facial telangiectases suggest type 1 segmental manifestation of Osler‐Rendu‐Weber syndrome in an 11‐year‐old boy


European Journal of Dermatology. Volume 13, Number 6, 537-9, November - December 2003, Genes and Skin

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Author(s) : Pamela POBLETE‐GUTIÉRREZ, Albert RBBEN, Hans F. MERK, Jorge FRANK

Summary : An 11‐year‐old boy revealed multiple telangiectases confined to the left cheek and the left side of the lips. Additionally, unilateral epistaxis was present. Radiological examinations of the brain, lungs and abdomen were normal and bleeding of the gastrointestinal tract was excluded. In this case, we propose a probable segmental type 1 manifestation of the autosomal dominantly inherited Osler‐Weber‐Rendu syndrome.

Keywords : cutaneous mosaicism, hereditary hemorrhagic telangiectasia, Osler‐Weber‐Rendu syndrome, segmental skin disorder, unilateral nevoid telangiectasia

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