cutaneous capillary malformation
MIM.123000
Capillary malformation, or ’port-wine stain’is a common cutaneous vascular anomaly that appears as a red macular stain that darkens over years.
Referred to as birthmarks, capillary malformations consist of dark red, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, leaving a residual brown hyperpigmentation.
Capillary malformation is a frequent birthmark in the newborn infant, especially located in the central forehead; it fades spontaneously over a few months or years, as a rule.
Predisposition
familial capillary malformation (MIM.608354)
- Locus 5q13.3: germline mutations in the RASA1 gene (#14639529#)
combined vascular malformative syndromes
- Sturge-Weber syndrome (MIM.185300)
- Klippel-Trenaunay syndrome (MIM.149000)
- Parkes Weber syndrome (MIM.608355).
Associations
arteriovenous malformation (arteriovenous fistula)