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Glomuvenous malformation(VMGLOM; GVM)

MedGen UID:
374834
Concept ID:
C1841984
Disease or Syndrome
Synonyms: Familial glomangioma; GLOMANGIOMAS, MULTIPLE; GLOMUS TUMORS, MULTIPLE; Glomuvenous malformations; VENOUS MALFORMATIONS WITH GLOMUS CELLS
SNOMED CT: Glomuvenous malformation (715644000); Hereditary multiple glomangioma (715644000); Venous malformations with glomus cells (715644000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): GLMN (1p22.1)
 
Monarch Initiative: MONDO:0007672
OMIM®: 138000
Orphanet: ORPHA83454

Definition

Glomuvenous malformations, also known as 'venous malformations with glomus cells' or glomangiomas, are similar to mucocutaneous venous malformations (VMCM; 600195), but clinically are distinguishable: they have a cobble-stone appearance, have a consistency harder than that of venous malformations, and are painful on palpation. Histologically, GVMs are distinguishable by the presence of pathognomonic rounded cells (glomus cells) around the distended vein-like channels. The term glomus (Latin for ball) stems from the morphologically similar contractile cells of the Sucquet-Hoyer arteriovenous anastomoses in glomus bodies that are involved in cutaneous thermoregulation. Glomus cells in GVMs appear to be incompletely or improperly differentiated vascular smooth muscle cells, since they stain positively with smooth muscle cell alpha-actin (102620) and vimentin (193060) (summary by Brouillard et al., 2002). The genetic distinctness of glomuvenous malformations from mucocutaneous venous malformations is indicated by the fact that mutations have been found in the TIE2/TEK gene (600221) in mucocutaneous venous malformations and not in glomuvenous malformations. [from OMIM]

Clinical features

From HPO
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding
Abnormality of the skin
MedGen UID:
11449
Concept ID:
C0037268
Congenital Abnormality
An abnormality of the skin.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGlomuvenous malformation
Follow this link to review classifications for Glomuvenous malformation in Orphanet.

Professional guidelines

PubMed

Szmyd B, Malicki M, Blaszczyk M, Karuga FF, Braun M, Sołek J, Jabbar R, Jankowski J, Wysiadecki G, Radek M
Neurol Neurochir Pol 2023;57(4):387-391. Epub 2023 Jun 21 doi: 10.5603/PJNNS.a2023.0039. PMID: 37341191
Redondo P, Aguado L, Martínez-Cuesta A
J Am Acad Dermatol 2011 Nov;65(5):909-23; quiz 924. doi: 10.1016/j.jaad.2011.03.009. PMID: 22000871
Redondo P, Aguado L, Martínez-Cuesta A
J Am Acad Dermatol 2011 Nov;65(5):893-906; quiz 907-8. doi: 10.1016/j.jaad.2010.12.047. PMID: 22000870

Recent clinical studies

Etiology

Jiang X, Yang C, Wang Z, Liang L, Gong Z, Huang S, Xu Z, Zhang B, Pei X, Cai L, Wang H, Lin Z
Br J Dermatol 2024 Jun 20;191(1):107-116. doi: 10.1093/bjd/ljae108. PMID: 38489583
Szmyd B, Malicki M, Blaszczyk M, Karuga FF, Braun M, Sołek J, Jabbar R, Jankowski J, Wysiadecki G, Radek M
Neurol Neurochir Pol 2023;57(4):387-391. Epub 2023 Jun 21 doi: 10.5603/PJNNS.a2023.0039. PMID: 37341191
Murthy AS, Dawson A, Gupta D, Spring S, Cordoro KM
J Am Acad Dermatol 2017 Sep;77(3):473-479. Epub 2017 Jun 1 doi: 10.1016/j.jaad.2017.04.014. PMID: 28578999
Vargas-Navia N, Baselga E, Muñoz-Garza FZ, Puig L
Actas Dermosifiliogr 2017 Jan-Feb;108(1):72-74. Epub 2016 Aug 21 doi: 10.1016/j.ad.2016.07.008. PMID: 27555518
Boon LM, Mulliken JB, Enjolras O, Vikkula M
Arch Dermatol 2004 Aug;140(8):971-6. doi: 10.1001/archderm.140.8.971. PMID: 15313813

Diagnosis

Szmyd B, Malicki M, Blaszczyk M, Karuga FF, Braun M, Sołek J, Jabbar R, Jankowski J, Wysiadecki G, Radek M
Neurol Neurochir Pol 2023;57(4):387-391. Epub 2023 Jun 21 doi: 10.5603/PJNNS.a2023.0039. PMID: 37341191
Huang JS, Wang D
J Pediatr Gastroenterol Nutr 2023 Apr 1;76(4):e81. Epub 2022 Dec 27 doi: 10.1097/MPG.0000000000003691. PMID: 36728817
Aneiros-Fernandez J, Retamero JA, Husein-ElAhmed H, Carriel V, Ruiz Villaverde R, O'Valle F, Aneiros-Cachaza J
Histol Histopathol 2017 Feb;32(2):153-160. Epub 2016 May 17 doi: 10.14670/HH-11-782. PMID: 27184662
Shaikh R, Alomari AI, Mulliken JB, Fishman SJ, Kozakewich HP, Chaudry G
Skeletal Radiol 2014 Jul;43(7):895-7. Epub 2014 Feb 28 doi: 10.1007/s00256-014-1836-3. PMID: 24577796
Boon LM, Mulliken JB, Enjolras O, Vikkula M
Arch Dermatol 2004 Aug;140(8):971-6. doi: 10.1001/archderm.140.8.971. PMID: 15313813

Therapy

Murthy AS, Dawson A, Gupta D, Spring S, Cordoro KM
J Am Acad Dermatol 2017 Sep;77(3):473-479. Epub 2017 Jun 1 doi: 10.1016/j.jaad.2017.04.014. PMID: 28578999
Vargas-Navia N, Baselga E, Muñoz-Garza FZ, Puig L
Actas Dermosifiliogr 2017 Jan-Feb;108(1):72-74. Epub 2016 Aug 21 doi: 10.1016/j.ad.2016.07.008. PMID: 27555518
Rivers JK, Rivers CA, Li MK, Martinka M
J Cutan Med Surg 2016 Jan;20(1):80-3. Epub 2015 Jul 15 doi: 10.1177/1203475415596121. PMID: 26177926
Phillips CB, Guerrero C, Theos A
Dermatol Online J 2015 Apr 16;21(4) PMID: 25933083
Redondo P, Aguado L, Martínez-Cuesta A
J Am Acad Dermatol 2011 Nov;65(5):909-23; quiz 924. doi: 10.1016/j.jaad.2011.03.009. PMID: 22000871

Prognosis

Vargas-Navia N, Baselga E, Muñoz-Garza FZ, Puig L
Actas Dermosifiliogr 2017 Jan-Feb;108(1):72-74. Epub 2016 Aug 21 doi: 10.1016/j.ad.2016.07.008. PMID: 27555518

Clinical prediction guides

Wortsman X, Millard F, Aranibar L
Actas Dermosifiliogr (Engl Ed) 2018 Apr;109(3):e17-e21. Epub 2017 Jul 3 doi: 10.1016/j.ad.2017.04.013. PMID: 28683898

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