Glomuvenous malformations versus familial venous malformations

Glomuvenous malformations

Multiple cutaneous & mucosal venous malformations (CMVM)*

Genetic basis

Inheritance	Autosomal dominant	Autosomal dominant
Mutated gene	GLMN	TEK
Type of mutation	Loss-of-function + lesional 2nd hit	Gain-of-function
Protein	Glomulin - component of protein complex with role in vasculogenesis	TIE-2/TEK - endothelial cell-specific tyrosine kinase receptor

Distribution

Cutaneous sites	Favors extremities	Favors face and neck
Mucosal involvement	Rare	Common
Deep muscle involvement	No	Occasional
Trauma-induced lesions	Occasional	No

Features of lesions

Color	Pink to deep bluish purple	Shades of blue
Topography	Cobblestone-like or multinodular	Hemispherical
Overlying hyperkeratosis	Common	No
Fully compressible	No	Yes
Fill with dependency	No	Yes
Pain upon palpation	Yes†	No
Pain following activity	No	Yes

*Blue rubber bleb nevus (Bean) syndrome is an autosomal dominant disorder characterized by venous malformations affecting the gastrointestinal (GI) tract as well as the skin; its relationship to CMVN, which occasionally involves the GI tract, has not yet been determined
†Localized or neuralgic; thought to be related to glomus cell contraction