Advances in genetics of clinical syndromes associated with vascular birthmarks

Vascular birthmarks mainly include infantile hemangioma and vascular malformation.Infantile hemangioma shows familial clustering,and is associated with allergic diseases such as atopic dermatitis in some cases.Variable gene expression is seen in infantile hemangioma during proliferation and involution.Vascular malformation may be sporadic or inherited in an autosomal dominant pattern.Arteriovenous malformation is usually caused by RASA1 mutation.Venous malformation may be sporadic,paradominant,or autosomal dominant.Autosomal dominant inherited forms of venous malformation are due to mutations in Tie2/Tek.Additionally,Tie2 somatic mutations have been identified in about half of sporadic venous malformation cases.To study vascular birthmarks at the molecular level may offer new ideas for their treatment. Key words: Hemangioma;  Abnormalities;  Heredity