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
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