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Capillary malformation(CMC)

MedGen UID:
90955
Concept ID:
C0340803
Congenital Abnormality
Synonyms: CAPILLARY MALFORMATIONS; Capillary malformations, congenital; CMC
SNOMED CT: Congenital anomaly of capillary (234118009); Capillary malformation (234118009)
 
Related gene: GNAQ
 
HPO: HP:0025104
Monarch Initiative: MONDO:0016231
OMIM®: 163000
Orphanet: ORPHA211247

Definition

Capillary malformations 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]

Conditions with this feature

CLOVES syndrome
MedGen UID:
442876
Concept ID:
C2752042
Disease or Syndrome
PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.
Ogden syndrome
MedGen UID:
477078
Concept ID:
C3275447
Disease or Syndrome
Ogden syndrome (OGDNS) is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Many patients also have cardiac malformations or arrhythmias (summary by Popp et al., 2015).
Microcephaly-capillary malformation syndrome
MedGen UID:
481926
Concept ID:
C3280296
Disease or Syndrome
The defining clinical characteristics of the microcephaly-capillary malformation (MIC-CAP) syndrome are typically present at birth: microcephaly and generalized cutaneous capillary malformations (a few to hundreds of oval/circular macules or patches varying in size from 1-2 mm to several cm), hypoplastic distal phalanges of the hands and/or feet, early-onset intractable epilepsy, and profound developmental delay. Seizures, which can be focal, tonic, and complex partial and can include infantile spasms, appear to stabilize after age two years. Myoclonus of the limbs and eyelids is common; other abnormal movements (dyskinetic, choreiform) may be seen. To date, the diagnosis has been confirmed in 18 individuals from 15 families.
Shashi-Pena syndrome
MedGen UID:
934639
Concept ID:
C4310672
Disease or Syndrome
Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures (summary by Shashi et al., 2016).
Capillary malformation-arteriovenous malformation 1
MedGen UID:
1648501
Concept ID:
C4747394
Disease or Syndrome
Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is characterized by the presence of multiple small (1-2 cm in diameter) capillary malformations mostly localized on the face and limbs. Some affected individuals also have associated arteriovenous malformations (AVMs) and/or arteriovenous fistulas (AFVs), fast-flow vascular anomalies that typically arise in the skin, muscle, bone, spine, and brain; life-threatening complications of these lesions can include bleeding, congestive heart failure, and/or neurologic consequences. Symptoms from intracranial AVMs/AVFs appear to occur early in life. Several individuals have Parkes Weber syndrome (multiple micro-AVFs associated with a cutaneous capillary stain and excessive soft-tissue and skeletal growth of an affected limb).
Capillary malformation-arteriovenous malformation 2
MedGen UID:
1648502
Concept ID:
C4748670
Disease or Syndrome
Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is characterized by the presence of multiple small (1-2 cm in diameter) capillary malformations mostly localized on the face and limbs. Some affected individuals also have associated arteriovenous malformations (AVMs) and/or arteriovenous fistulas (AFVs), fast-flow vascular anomalies that typically arise in the skin, muscle, bone, spine, and brain; life-threatening complications of these lesions can include bleeding, congestive heart failure, and/or neurologic consequences. Symptoms from intracranial AVMs/AVFs appear to occur early in life. Several individuals have Parkes Weber syndrome (multiple micro-AVFs associated with a cutaneous capillary stain and excessive soft-tissue and skeletal growth of an affected limb).

Professional guidelines

PubMed

Yeom S, Cohen B, Weiss CR, Montano C, Wohler E, Sobreira N, Hammill AM, Comi A
Am J Med Genet A 2023 Apr;191(4):983-994. Epub 2023 Jan 29 doi: 10.1002/ajmg.a.63106. PMID: 36710374
Douzgou S, Rawson M, Baselga E, Danielpour M, Faivre L, Kashanian A, Keppler-Noreuil KM, Kuentz P, Mancini GMS, Maniere MC, Martinez-Glez V, Parker VE, Semple RK, Srivastava S, Vabres P, De Wit MY, Graham JM Jr, Clayton-Smith J, Mirzaa GM, Biesecker LG
Clin Genet 2022 Jan;101(1):32-47. Epub 2021 Jul 16 doi: 10.1111/cge.14027. PMID: 34240408Free PMC Article
Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG
Am J Med Genet A 2015 Feb;167A(2):287-95. Epub 2014 Dec 31 doi: 10.1002/ajmg.a.36836. PMID: 25557259Free PMC Article

Recent clinical studies

Etiology

Hammill AM, Boscolo E
J Clin Invest 2024 Apr 15;134(8) doi: 10.1172/JCI172842. PMID: 38618955Free PMC Article
Yeom S, Comi AM
Stroke 2022 Dec;53(12):3769-3779. Epub 2022 Oct 20 doi: 10.1161/STROKEAHA.122.038585. PMID: 36263782Free PMC Article
Palit A, Inamadar AC
Indian J Dermatol Venereol Leprol 2022 May-Jun;88(4):452-463. doi: 10.25259/IJDVL_799_20. PMID: 35138057
Douzgou S, Rawson M, Baselga E, Danielpour M, Faivre L, Kashanian A, Keppler-Noreuil KM, Kuentz P, Mancini GMS, Maniere MC, Martinez-Glez V, Parker VE, Semple RK, Srivastava S, Vabres P, De Wit MY, Graham JM Jr, Clayton-Smith J, Mirzaa GM, Biesecker LG
Clin Genet 2022 Jan;101(1):32-47. Epub 2021 Jul 16 doi: 10.1111/cge.14027. PMID: 34240408Free PMC Article
Rauen KA
Annu Rev Genomics Hum Genet 2013;14:355-69. Epub 2013 Jul 15 doi: 10.1146/annurev-genom-091212-153523. PMID: 23875798Free PMC Article

Diagnosis

Yeom S, Comi AM
Stroke 2022 Dec;53(12):3769-3779. Epub 2022 Oct 20 doi: 10.1161/STROKEAHA.122.038585. PMID: 36263782Free PMC Article
Mahajan P, Bergstrom KL, Phung TL, Metry DW
Clin Dermatol 2022 Jul-Aug;40(4):313-321. Epub 2022 Feb 16 doi: 10.1016/j.clindermatol.2022.02.006. PMID: 35181412
Palit A, Inamadar AC
Indian J Dermatol Venereol Leprol 2022 May-Jun;88(4):452-463. doi: 10.25259/IJDVL_799_20. PMID: 35138057
Douzgou S, Rawson M, Baselga E, Danielpour M, Faivre L, Kashanian A, Keppler-Noreuil KM, Kuentz P, Mancini GMS, Maniere MC, Martinez-Glez V, Parker VE, Semple RK, Srivastava S, Vabres P, De Wit MY, Graham JM Jr, Clayton-Smith J, Mirzaa GM, Biesecker LG
Clin Genet 2022 Jan;101(1):32-47. Epub 2021 Jul 16 doi: 10.1111/cge.14027. PMID: 34240408Free PMC Article
Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG
Am J Med Genet A 2015 Feb;167A(2):287-95. Epub 2014 Dec 31 doi: 10.1002/ajmg.a.36836. PMID: 25557259Free PMC Article

Therapy

Yeom S, Cohen B, Weiss CR, Montano C, Wohler E, Sobreira N, Hammill AM, Comi A
Am J Med Genet A 2023 Apr;191(4):983-994. Epub 2023 Jan 29 doi: 10.1002/ajmg.a.63106. PMID: 36710374
Liu L, Li X, Zhao Q, Yang L, Jiang X
Int J Mol Sci 2022 Oct 12;23(20) doi: 10.3390/ijms232012139. PMID: 36292993Free PMC Article
Sebold AJ, Day AM, Ewen J, Adamek J, Byars A, Cohen B, Kossoff EH, Mizuno T, Ryan M, Sievers J, Smegal L, Suskauer SJ, Thomas C, Vinks A, Zabel TA, Hammill AM, Comi AM
Pediatr Neurol 2021 Feb;115:29-40. Epub 2020 Nov 2 doi: 10.1016/j.pediatrneurol.2020.10.013. PMID: 33316689Free PMC Article
Gemmete JJ, Pandey AS, Kasten SJ, Chaudhary N
Neuroimaging Clin N Am 2013 Nov;23(4):703-28. Epub 2013 May 30 doi: 10.1016/j.nic.2013.03.016. PMID: 24156860
Comi AM
Neurologist 2011 Jul;17(4):179-84. doi: 10.1097/NRL.0b013e318220c5b6. PMID: 21712663Free PMC Article

Prognosis

Porwal M, Anderson D, Razzak AN, Fitzgerald G
BMJ Case Rep 2022 Dec 26;15(12) doi: 10.1136/bcr-2022-249587. PMID: 36572450Free PMC Article
Valdivielso-Ramos M, Martin-Santiago A, Azaña JM, Hernández-Nuñez A, Vera A, Perez B, Tercedor J, Feito M, Vicente A, Prat C, Lopez-Gutierrez JC, Garnacho G, Baselga E, Roe E, Palencia S, Cordero P, Moreno R, Agudo A, de la Cueva P, Torrelo A
Clin Exp Dermatol 2021 Mar;46(2):300-305. Epub 2020 Oct 20 doi: 10.1111/ced.14428. PMID: 32840927
Bui TNPT, Corap A, Bygum A
Orphanet J Rare Dis 2019 Dec 4;14(1):283. doi: 10.1186/s13023-019-1229-8. PMID: 31801575Free PMC Article
Bichsel C, Bischoff J
Curr Opin Hematol 2019 May;26(3):179-184. doi: 10.1097/MOH.0000000000000500. PMID: 30870248Free PMC Article
Nabbout R, Juhász C
Handb Clin Neurol 2013;111:315-21. doi: 10.1016/B978-0-444-52891-9.00037-3. PMID: 23622182

Clinical prediction guides

Valdivielso-Ramos M, Martin-Santiago A, Azaña JM, Hernández-Nuñez A, Vera A, Perez B, Tercedor J, Feito M, Vicente A, Prat C, Lopez-Gutierrez JC, Garnacho G, Baselga E, Roe E, Palencia S, Cordero P, Moreno R, Agudo A, de la Cueva P, Torrelo A
Clin Exp Dermatol 2021 Mar;46(2):300-305. Epub 2020 Oct 20 doi: 10.1111/ced.14428. PMID: 32840927
Cubiró X, Rozas-Muñoz E, Castel P, Roé Crespo E, Garcia-Melendo C, Puig L, Baselga E
Pediatr Dermatol 2020 Sep;37(5):833-838. Epub 2020 Jul 1 doi: 10.1111/pde.14252. PMID: 32608066
Bui TNPT, Corap A, Bygum A
Orphanet J Rare Dis 2019 Dec 4;14(1):283. doi: 10.1186/s13023-019-1229-8. PMID: 31801575Free PMC Article
Bichsel C, Bischoff J
Curr Opin Hematol 2019 May;26(3):179-184. doi: 10.1097/MOH.0000000000000500. PMID: 30870248Free PMC Article
Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL; Finding of Rare Disease Genes (FORGE) Canada Consortium, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB
Nat Genet 2012 Jun 24;44(8):934-40. doi: 10.1038/ng.2331. PMID: 22729224Free PMC Article

Recent systematic reviews

Chou M, Karim M, Josephs J, Itzkowitz T, Dreker MR, Labadie JG
Lasers Surg Med 2024 Jan;56(1):39-44. Epub 2023 Jul 11 doi: 10.1002/lsm.23706. PMID: 37431532
Snast I, Lapidoth M, Kaftory R, Nosrati A, Hodak E, Mimouni D, Solomon-Cohen E, Levi A
Lasers Med Sci 2021 Dec;36(9):1909-1916. Epub 2021 Feb 13 doi: 10.1007/s10103-021-03264-7. PMID: 33580846
van Raath MI, Chohan S, Wolkerstorfer A, van der Horst CMAM, Limpens J, Huang X, Ding B, Storm G, van der Hulst RRWJ, Heger M
Dermatology 2021;237(3):416-432. Epub 2020 Dec 3 doi: 10.1159/000511438. PMID: 33271556Free PMC Article
Banzic I, Brankovic M, Maksimović Ž, Davidović L, Marković M, Rančić Z
Phlebology 2017 Jul;32(6):371-383. Epub 2016 Aug 9 doi: 10.1177/0268355516664212. PMID: 27511883
Gripp KW, Hopkins E, Doyle D, Dobyns WB
Am J Med Genet A 2010 May;152A(5):1161-8. doi: 10.1002/ajmg.a.33391. PMID: 20425820Free PMC Article

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