Article
The genetics of vascular birthmarks.
Clinics in dermatology - 1 Jan 2000
Mahajan Priya, Bergstrom Katie L, Phung Thuy L, Metry Denise W
Abstract excerpt
One in 10 infants are born with a vascular birthmark each year. Some vascular birthmarks, such as infantile hemangiomas, are common, while vascular malformations, such as capillary, lymphatic, venous, and arteriovenous malformations, are less so. Diagnosing uncommon vascular birthmarks can be challenging, given the phenotypic heterogeneity and overlap among these lesions. Both sporadic and germline variants have...
Topics
- Capillaries
- Class I Phosphatidylinositol 3-Kinases
- Hemangioma
- Humans
- Mitogen-Activated Protein Kinase Kinases
- Mutation
- Proto-Oncogene Proteins c-akt
- Syndrome
- TOR Serine-Threonine Kinases
- Vascular Malformations
- p120 GTPase Activating Protein