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).
Keywords
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsReferences
OWR
Osler W. On multiple hereditary telangiectasis with recurrent ring hemorrhages. Q J Med. 1907;1:53.
Perry W. The clinical spectrum of hereditary hemorrhagic telangiectasias (Osler-Weber-Rendu disease). Am J Med. 1987;5:989.
Garg N, Khunger M, Gupta A, Kumar N. Optimal management of hereditary hemorrhagic telangiectasia. J Blood Med. 2014;5:191.
Chandler D. Pulmonary and cerebral arteriovenous fistula with Osler’s disease. Arch Intern Med. 1965;116:277.
Swanson D, Dahl M. Embolic abscesses in hereditary hemorrhagic telangiectasia. J Am Acad Dermatol. 1991;24:580.
Vase P. Estrogen treatment of hereditary hemorrhagic telangiectasia: a double blind controlled clinical trial. Acta Med Scand. 1981;209:393.
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.
AT
Smith L, Conerly S. Ataxia-telangiectasia or Louis-Bar syndrome. J Am Acad Dermatol. 1985;12:686.
Li A, Swift M. Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. Am J Med Genet. 2000;92:170.
Khanna K. Cancer risk and the ATM gene: a continuing debate. J Natl Cancer Inst. 2000;92:795.
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.
Peterson R, Funkhouser J. Speculations on ataxia-telangiectasia: defective regulation of the immunoglobulin gene superfamily. Immunol Today. 1989;10:313.
Drolet B, Drolet B, Zvulunov A, et al. Cutaneous granulomas as a presenting sign in ataxia-telangiectasia. Dermatology. 1997;194:273.
FD
Anderson W. A case of angiokeratoma. Br J Dermatol. 1898;10:113.
Fabry J. Ein Beitrag Zur Kenntnis der Purpura haemorrhagica nodularis. Arch Dermatol Syphilis. 1898;43:187.
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.
Wallace H. Anderson-Fabry disease. Br J Dermatol. 1973;88:1.
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.
Epinette W, Norins A, Drew A, et al. Angiokeratoma corporis diffusum with a L-fucosidase deficiency. Arch Dermatol. 1973;107:754.
Thomas AS, Hughes DA. Fabry disease. Pediatr Endocronil Rev. 2014;1:88–101.
Fellgiebel A, et al. Enzyme replacement therapy stabilized white matter lesion progression in Fabry disease. Cerebrovasc Dis. 2014;38:448–56.
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.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2016 Springer International Publishing Switzerland
About this chapter
Cite this chapter
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
Download citation
DOI: https://doi.org/10.1007/978-3-319-31566-9_15
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-31564-5
Online ISBN: 978-3-319-31566-9
eBook Packages: MedicineMedicine (R0)