["Blue rubber bleb nevus syndrome"--or Bean's syndrome].
We describe a case of the blue rubber bleb naevus syndrome, an uncommon systemic disorder characterized by multiple bluish haemangiomas of the skin and gastrointestinal tract. The syndrome is commonly associated with iron deficiency anaemia due to gastrointestinal bleeding. The syndrome is likely to be caused by a gene mapping to chromosome 9p and showing autosomal dominant inheritance. This is the first Danish report of this unusual disease. We hope that this case will heighten the awareness of this condition, because early recognition is essential for appropriate medical intervention and genetic counselling.
Bonde
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CT
H:S Rigshospitalet, infektionsmedicinsk afdeling M og haematologisk afdeling L.
Jakobsen
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Hasselbalch
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HC
D002899:Chromosomes, Human, Pair 9; D005260:Female; D005770:Gastrointestinal Neoplasms / Q000235:genetics / Q000473:pathology; D006391:Hemangioma / Q000235:genetics / Q000473:pathology; D006801:Humans; D008875:Middle Aged; D018329:Nevus, Blue / Q000235:genetics* / Q000473:pathology; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology; D013577:Syndrome
"Blue rubber bleb naevus syndrome"--eller Beans syndrom.