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glomuvenous malformations

Monday 14 March 2005

Glomuvenous malformation (GVM) ("glomangioma") is a localised cutaneous vascular lesion histologically characterised by abnormal smooth muscle-like "glomus cells" in the walls of distended endothelium lined channels.

Predisposition

- familial glomuvenous malformations (familial glomangiomas)

  • Locus 1p21-22: truncating mutations in glomulin with complete localised loss of function

References

- Brouillard P, Ghassibe M, Penington A, Boon LM, Dompmartin A, Temple IK, Cordisco M, Adams D, Piette F, Harper JI, Syed S, Boralevi F, Taieb A, Danda S, Baselga E, Enjolras O, Mulliken JB, Vikkula M. Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect. J Med Genet. 2005 Feb;42(2):e13. PMID: #15689436#

- Boon LM, Mulliken JB, Enjolras O, Vikkula M. Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities. Arch Dermatol. 2004 Aug;140(8):971-6. PMID: #15313813#

- Brouillard P, Boon LM, Mulliken JB, Enjolras O, Ghassibe M, Warman ML, Tan OT, Olsen BR, Vikkula M. Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas"). Am J Hum Genet. 2002 Apr;70(4):866-74. PMID: #11845407#