Hereditary haemorrhagic telangiectasia induced by PUVA therapy.

摘要

Hereditary hemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu disease is a rare autosomal dominant bleeding disorder characterized by localized angiodysplasia (figure 1). Genetic linkage studies have revealed the molecular heterogeneity of the disease with the identification of two different loci: Endoglin, which maps to chromosome 9q33-q34 (type-1 HHT) and Activin Receptor Like Kinase-1 (ALK-1) mapped to chromosome 12ql3 (type-2 HHT) . Families with HHT type 1 have a higher incidence of pulmonary involvement while HHT type 2 families show a later onset and milder manifestations of the disease .