Ann Dermatol.  2009 May;21(2):206-208. 10.5021/ad.2009.21.2.206.

A Case of Hereditary Hemorrhagic Telangiectasia

• Lee HE
• Sagong C
• Yeo KY
• Ko JY
• Kim JS
• Yu HJ

• KMID: 2219399
• DOI: http://doi.org/10.5021/ad.2009.21.2.206

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.

Keyword

Hereditary hemorrhagic telangiectasia; Osler-Weber-Rendu disease

MeSH Terms

Aged
Anemia
Angiodysplasia
Capillaries
Dermis
Endothelial Cells
Epistaxis
Female
Fingers
Hand
Hemorrhage
Humans
Mucous Membrane
Nails
Skin
Stomach
Telangiectasia, Hereditary Hemorrhagic
Telangiectasis
Tongue

Figure

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  Fig. 1 Typical punctuate or splinter-like telangiectasias on the (A) fingertips (B) and tongue.

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  Fig. 2 HHT manifestation in the GI tract with angiodysplasia in the fundus of the stomach.

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  Fig. 3 The histopathologic findings from the papules on the fingertip show dilated capillaries lined by flat endothelial cells in the papillary dermis (H&E, ×100).

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