Vascular Hamartomas
Steven D. Billings, MD
Key Facts
Clinical Issues
Port-wine stain
Usually involves head and neck
Sturge-Weber syndrome
Port-wine stain involving ophthalmic branch of trigeminal nerve
Klippel-Trenaunay-Weber syndrome
Port-wine stain usually involving extremity
Blue rubber bleb nevus syndrome
Multiple blue-colored rubbery hemangiomas of skin
Mafucci syndrome
Multiple hemangiomas of dermis and subcutis and enchondromas
Microscopic Pathology
Dilated blood-filled capillaries
Confined to papillary dermis in salmon patch
Involve deeper dermis in port-wine stain
 Port-wine stain is a vascular hamartoma that usually presents on the head and neck. As the patient ages, it often becomes thicker and more nodular. (Courtesy A. Vidimos, MD.) |
 Vascular hamartomas are usually characterized by closely packed, dilated, thin-walled blood vessels. |
TERMINOLOGY
Synonyms
Congenital vascular malformations
Sturge-Weber syndrome: Encephalotrigeminal angiomatosis
Klippel-Trenaunay-Weber syndrome: Angioosteohypertrophy, hemangiectatic hypertrophy
Definitions
Nevus flammeus: Group of congenital vascular malformations
ETIOLOGY/PATHOGENESIS
Developmental Anomaly
Vascular malformations present at birth
Klippel-Trenaunay-Weber syndrome may be associated with t(8;14)(q22.3;q13)
CLINICAL ISSUES
Presentation
Present at birth usually in the head and neck area, but may involve extremities or trunk
Port-wine stain (PWS)
Present in 0.3% of all births
Usually involves head and neck, but any location may be affected
May be segmental
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