Hereditary hemorrhagic telangiectasia associated with acrofacial vitiligo

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

Abstract


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.

 


Keywords


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

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References


Gonzalez CD, Cipriano SD, Topham CA, Stevenson DA, Whitehead KJ, Vanderhooft S, et al. Localization and age distribution of telangiectases in children and adolescents with hereditary hemorrhagic telangiectasia: A retrospective cohort study. J Am Acad Dermatol. 2019;81:950-5.

Athena Kritharis, Hanny Al-Samkari, and David J Kuter. Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist’s perspective. Haematologica. 2018;103:1433-43.

Hata A, Lagna G. Deregulation of Drosha in the pathogenesis of hereditary hemorrhagic telangiectasia. Curr Opin Hematol. 2019; 26:161–9.

Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet. 2000; 91:66-7.

Steineger J, Ueland T, Aukrust P, Michelsen A, Osnes T, Heimdal K, et al. Pentraxin 3 level is elevated in hereditary hemorrhagic telangiectasia and reflects the severity of disease-associated epistaxis. Laryngoscope. 2019;129:E44-9.

Kaliyadan F. Osler-Weber-Rendu syndrome associated with vitiligo. Indian J Dermatol Venereol Leprol. 2008;74:659-61.

A. Grapsa, D. Farmakis, E. Variami, Polonifi A, Diamanti-Kandaraki E, Papalambros E, et al. Hereditary hemorrhagic telangiectasia associated with vitiligo, autoimmune thyroiditis, iridocyclitis, and myelodysplastic syndrome. Clin Exp Dermatol. 2005;30:448-50.

Fain PR, Gowan K, LaBerge GS, Alkhateeb A, Stetler GL, Talbert J, et al. A genome-wide screen for generalized vitiligo: confirmation of AIS1 on chromosome 1p31 and evidence for additional susceptibility loci. Am J Hum Genet. 2003;72:1560-4.

Bayrak-Toydemir P, McDonald J, Akarsu N, Toydemir RM, Calderon F, Tuncali T, et al. A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7. Am J Med Genet A. 2006;140:2155-62.

Faughnan ME, Gossage JR, Chakinala MM, Oh SP, Kasthuri R, Hughes CCW, et al. Pazopanib may reduce bleeding in hereditary hemorrhagic telangiectasia. Angiogenesi.s 2019;22:145-55.


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