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Contributor

Bernard Cohen, MD

Diagnosis

hereditary hemorrhagic telangiectasia telangiectasia Osler-Rendu-Weber disease

Body Site

hand finger

Age

46 years

Pigmentation

light

Organization

scattered grouped, clustered

Color

red

Morphology

macular / flat (macule / patch)

Pattern

generalized, disseminated

Comments

This 46-year-old woman had slowly progressive spider angiomas, linear telangiectasias, and telangiectatic papules beginning during adolescence. Her father, who complined of recurrent nose bleeds requiring cautery, had similar cutaneous lesions. Hereditary hemorrhagic telangiectasia is characterized by the appearance of multiple punctate telangiectasias on skin and mucous membranes. Lesions usually begin to devop in adolescence and many patients present with recurrent nose bleeds. The number and size of lesions increases with increasing age. Fibrovascular anomalies if the liver and vascular malformations in the brain and lungs are common findings. Genetic studies have identified mutations at loci on chromosomes 9 and 12 which encode for endoglin and activin-like kinase 1 which are expressed on endothelial cells.

Description

multiple widespread 2-5 mm blanching red macules and partially blanching papules, 1 hemorrhagic crust

Categories

vascular malformation genodermatosis/genetic disorder cutaneous sign of systemic disease

Image Added

1/31/2005 23:46:44

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Other Resources

PubMed Medline Plus Medscape

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