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Lethal Hereditary Vascular Disorders: Osler-Weber-Rendu Syndrome, Ataxia-Telangiectasia, and Fabry’s Disease

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Deadly Dermatologic Diseases

Abstract

Mucocutaneous vascular ectasia, otherwise referred to as telangiectasia, can be an important harbinger of serious systemic disease. Among a variety of acquired conditions, including hepatic cirrhosis, that are responsible for their development, are a heterogeneous group of inherited conditions that entail the development of multiple cutaneous and mucous membrane vascular lesions associated with other life-threatening complications. This chapter deals with the clinical and pathologic features of three such conditions, namely, Osler-Weber-Rendu (OWR) syndrome, ataxia-telangiectasia (AT), and Fabry’s disease (FD).

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References

OWR

  1. Osler W. On multiple hereditary telangiectasis with recurrent ring hemorrhages. Q J Med. 1907;1:53.

    Google Scholar 

  2. Perry W. The clinical spectrum of hereditary hemorrhagic telangiectasias (Osler-Weber-Rendu disease). Am J Med. 1987;5:989.

    Article  Google Scholar 

  3. Garg N, Khunger M, Gupta A, Kumar N. Optimal management of hereditary hemorrhagic telangiectasia. J Blood Med. 2014;5:191.

    PubMed  PubMed Central  Google Scholar 

  4. Chandler D. Pulmonary and cerebral arteriovenous fistula with Osler’s disease. Arch Intern Med. 1965;116:277.

    Article  CAS  PubMed  Google Scholar 

  5. Swanson D, Dahl M. Embolic abscesses in hereditary hemorrhagic telangiectasia. J Am Acad Dermatol. 1991;24:580.

    Article  CAS  PubMed  Google Scholar 

  6. Vase P. Estrogen treatment of hereditary hemorrhagic telangiectasia: a double blind controlled clinical trial. Acta Med Scand. 1981;209:393.

    Article  CAS  PubMed  Google Scholar 

  7. Dupuis-Girod S, et al. Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output. JAMA. 2012;307:948.

    Article  CAS  PubMed  Google Scholar 

AT

  1. Smith L, Conerly S. Ataxia-telangiectasia or Louis-Bar syndrome. J Am Acad Dermatol. 1985;12:686.

    Article  Google Scholar 

  2. Li A, Swift M. Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. Am J Med Genet. 2000;92:170.

    Article  CAS  PubMed  Google Scholar 

  3. Khanna K. Cancer risk and the ATM gene: a continuing debate. J Natl Cancer Inst. 2000;92:795.

    Article  CAS  PubMed  Google Scholar 

  4. Swift M, Morrell D, Massey R, et al. Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med. 1991;325:1831.

    Article  CAS  PubMed  Google Scholar 

  5. Peterson R, Funkhouser J. Speculations on ataxia-telangiectasia: defective regulation of the immunoglobulin gene superfamily. Immunol Today. 1989;10:313.

    Article  CAS  PubMed  Google Scholar 

  6. Drolet B, Drolet B, Zvulunov A, et al. Cutaneous granulomas as a presenting sign in ataxia-telangiectasia. Dermatology. 1997;194:273.

    Article  CAS  PubMed  Google Scholar 

FD

  1. Anderson W. A case of angiokeratoma. Br J Dermatol. 1898;10:113.

    Article  Google Scholar 

  2. Fabry J. Ein Beitrag Zur Kenntnis der Purpura haemorrhagica nodularis. Arch Dermatol Syphilis. 1898;43:187.

    Article  Google Scholar 

  3. Eng C, Guffon N, Wilcox W, et al. Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry’s disease. N Engl J Med. 2001;345:9.

    Article  CAS  PubMed  Google Scholar 

  4. Wallace H. Anderson-Fabry disease. Br J Dermatol. 1973;88:1.

    Article  CAS  PubMed  Google Scholar 

  5. Holmes R, Fenson A, McKee P, et al. Angiokeratoma corporis diffusum in a patient with normal enzyme activities. J Am Acad Dermatol. 1984;10:384.

    Article  CAS  PubMed  Google Scholar 

  6. Epinette W, Norins A, Drew A, et al. Angiokeratoma corporis diffusum with a L-fucosidase deficiency. Arch Dermatol. 1973;107:754.

    Article  CAS  PubMed  Google Scholar 

  7. Thomas AS, Hughes DA. Fabry disease. Pediatr Endocronil Rev. 2014;1:88–101.

    Google Scholar 

  8. Fellgiebel A, et al. Enzyme replacement therapy stabilized white matter lesion progression in Fabry disease. Cerebrovasc Dis. 2014;38:448–56.

    Article  CAS  PubMed  Google Scholar 

  9. Kizhner T, et al. Characterization of a chemically modified plant cell culture expressed human alpha-galactosidase-A enzyme for treatment of Fabry disease. Mol Genet Metab. 2015;114:259–67.

    Article  CAS  PubMed  Google Scholar 

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Correspondence to Michael B. Morgan .

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Michael, G., Morgan, M.B. (2016). Lethal Hereditary Vascular Disorders: Osler-Weber-Rendu Syndrome, Ataxia-Telangiectasia, and Fabry’s Disease. In: Crowe, D., Morgan, M., Somach, S., Trapp, K. (eds) Deadly Dermatologic Diseases. Springer, Cham. https://doi.org/10.1007/978-3-319-31566-9_15

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  • DOI: https://doi.org/10.1007/978-3-319-31566-9_15

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