Familial multiple nevi flammei

MedGen UID:: 419699
•Concept ID:: C2931029
•: Disease or Syndrome

Synonyms:	CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC; Nevi Flammei; PORT-WINE STAIN; Port-wine stain familial multiple
SNOMED CT:	Familial multiple port-wine stains (763714006); Familial multiple nevi flammei (763714006)

Gene (location): Gene(s) directly associated with this condition or phenotype.	GNAQ (9q21.2)

Monarch Initiative:	MONDO:0008094
OMIM®:	163000
Orphanet:	ORPHA624

Definition

Capillary malformations (CMC) are a form of vascular malformation that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas (602089), which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity (Spring and Bentz, 2005; Legiehn and Heran, 2006). [from OMIM]

Clinical features

From HPO

Nevus flammeus

MedGen UID:: 65911
•Concept ID:: C0235752
•: Congenital Abnormality

A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.

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