Ann Dermatol.  2016 Apr;28(2):264-266. 10.5021/ad.2016.28.2.264.

Mucocutaneous Telangiectasia as a Diagnostic Clue of Hereditary Hemorrhagic Telangiectasia: An Activin Receptor-Like Kinase-1 Mutation in a Korean Patient

• Seo J
• Chu H
• Lee JS
• Kim DY

• KMID: 2171394
• DOI: http://doi.org/10.5021/ad.2016.28.2.264

Abstract

No abstract available.

MeSH Terms

Activins*
Humans
Telangiectasia, Hereditary Hemorrhagic*
Telangiectasis*
Activins

Figure

• 

  Fig. 1 (A~C) Typical cutaneous telangiectasias at characteristic sites: lip, oral cavity, and fingers. (D) Presence of the mutation c.940C>T (p.His314Tyr) in activin receptor-like kinase-1.

• 

  Fig. 2 Skin lesions on the tongue showed excellent response after a single treatment using pulsed dye laser (Vbeam Perfecta; Candela Laser Corporation, Wayland, MA, USA): (A) before treatment and (B) after treatment.

Reference

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2. Halachmi S, Israeli H, Ben-Amitai D, Lapidoth M. Treatment of the skin manifestations of hereditary hemorrhagic telangiectasia with pulsed dye laser. Lasers Med Sci. 2014; 29:321–324.

3. Lesca G, Plauchu H, Coulet F, Lefebvre S, Plessis G, Odent S, et al. French Rendu-Osler Network. Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. Hum Mutat. 2004; 23:289–299.

4. Shovlin CL. Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. Blood Rev. 2010; 24:203–219.

5. Dave RU, Mahaffey PJ, Monk BE. Cutaneous lesions in hereditary haemorrhagic telangiectasia: successful treatment with the tunable dye laser. J Cutan Laser Ther. 2000; 2:191–193.