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 syndrome, ataxiatelangiectasia, and Fabry’s disease.
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References
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). Am J Med 1987;5:989.
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.
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 ataxiatelangiectasia: 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 Kenntis der Purpura haemorrhagica nodularis. Arch Dermatol Syphilol 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.
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(2007). Lethal Hereditary Vascular Disorders: Osler-Weber-Rendu, Ataxia-Telangiectasia, and Fabry’s Disease. In: Deadly Dermatologic Diseases. Springer, New York, NY. https://doi.org/10.1007/978-0-387-68858-9_30
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DOI: https://doi.org/10.1007/978-0-387-68858-9_30
Publisher Name: Springer, New York, NY
Print ISBN: 978-0-387-25442-5
Online ISBN: 978-0-387-68858-9
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