Hereditary hemorrhagic telangiectasia associated with acrofacial vitiligo

Haritha Thiruveedhula, Soumya Ruvva, Haritha Samanthula, Dr. Sasanka V


Hereditary hemorrhagic telangiectasia (HHT) or Osler Weber Rendu syndrome is an autosomal dominant systemic vascular dysplastic disorder presenting with telangiectases over the skin and arterio-venous malformations (AVMs) in internal organs.1 Mutations in Endoglin (ENG or CD 105) and Activin receptor-like kinase 1 (ACVRL1 encoding the ALK1) genes of the TGF β are responsible for HHT1 and HHT2 respectively.1 They account for the majority of HHT cases. Mutations in MADH4 (which encodes for SMAD4 protein, a transcription factor that mediates signal transduction in the TGF-β pathway) result in juvenile polyposis with HHT syndrome (JP-HHT).1,2 Bone morphogenetic protein (BMP9 or GDF2)3 genes also showed pathogenic mutations. Drosha mediated micro RNA biogenesis contributes significantly to the control of vascular development and homeostasis by TGF β.3 Loss or reduction of the Drosha function may predispose carriers to HHT.

HHT is associated with autoimmune diseases like lupus erythematosus, scleroderma, primary biliary cirrhosis, thyroiditis, vitiligo and, platelet dysfunctions like primary thrombocythaemia, and with recurrent iridocyclitis and myelodysplastic syndrome. We report the third case of HHT associated with acrofacial vitiligo.



Hereditary hemorrhagic telangiectasia; Osler-Weber-Rendu syndrome; Acrofacial vitiligo.

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