A Case of Hereditary Hemorrhagic Telangiectasia
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Hereditary hemorrhagic telangiectasia, also known as Osler-Weber-Rendu disease, is an autosomal dominant disorder of the fibrovascular tissue. It is characterized by the classic triad of mucocutaneous telangiectasias, recurrent hemorrhages, and familial occurrence. The cutaneous manifestation appear clinically as punctuate, linear, or splinter- like telangiectasias of the upper body, oral, and nasal mucous membranes, and nail beds. A 73-year-old woman presented with purpuric, punctuate, and tiny macules on the finger tips of both hands and the tongue. The skin lesions were discovered about 50 years previously. She had a family history of cutaneous telangiectasia. Also, she had episodes of recurrent epistaxis, gastrointestinal bleeding, and anemia. The gastroendoscopy revealed gastric angiodysplasia of the fundus and body of the stomach. The histopathologic study showed dilated capillaries lined by flat endothelial cells in the papillary dermis. From these findings, we diagnosed this case as hereditary hemorrhagic telangiectasia, which has rarely been reported in the dermatologic literature.
Abstract
Hereditary hemorrhagic telangiectasia, also known as Osler-Weber-Rendu disease, is an autosomal dominant disorder of the fibrovascular tissue. It is characterized by the classic triad of mucocutaneous telangiectasias, recurrent hemorrhages, and familial occurrence. The cutaneous manifestation appear clinically as punctuate, linear, or splinter- like telangiectasias of the upper body, oral, and nasal mucous membranes, and nail beds. A 73-year-old woman presented with purpuric, punctuate, and tiny macules on the finger tips of both hands and the tongue. The skin lesions were discovered about 50 years previously. She had a family history of cutaneous telangiectasia. Also, she had episodes of recurrent epistaxis, gastrointestinal bleeding, and anemia. The gastroendoscopy revealed gastric angiodysplasia of the fundus and body of the stomach. The histopathologic study showed dilated capillaries lined by flat endothelial cells in the papillary dermis. From these findings, we diagnosed this case as hereditary hemorrhagic telangiectasia, which has rarely been reported in the dermatologic literature.
참고문헌 (8)
- te Veldhuis EC, "Rendu-Osler-Weber disease: update of medical and dental considerations", Oral Surg Oral Med Oral Pathol Oral Radiol Endod, 105, pp.e38~e41 (2008)
- Sadick H, "Hereditary hemorrhagic telangiectasia: an update on clinical manifestations and diagnostic measures", Wien Klin Wochenschr, 118, pp.72~80 (2006)
- 장대성, "유전성 출혈성 모세혈관확장증 1예", 대한피부과학회지, 40(9), pp.1148~1150 (2002), 대한피부과학회
- Bossler AD, "Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype", Hum Mutat, 27, pp.667~675 (2006)
- Abdalla SA, "Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease", J Med Genet, 43, pp.97~110 (2006)
- Juares AJ, "Rendu-Osler-Weber Syndrome: case report and literature review", Braz J Otorhinolaryngol, 74, pp.452~457 (2008)
- Garzon MC, "Vascular malformations. Part II: associated syndromes", J Am Acad Dermatol, 56, pp.541~564 (2007)
- Fernandez-Jorge B, "Treatment of cutaneous and mucosal telangiectases in hereditary hemorrhagic telangiectasia: report of three cases", J Cosmet Laser Ther, 9, pp.29~33 (2007)