U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Capillary malformation of the lip

MedGen UID:
1611689
Concept ID:
C4531089
Anatomical Abnormality
HPO: HP:0031487

Definition

A vascular malformation located in the lip that is characterized by ectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCapillary malformation of the lip

Conditions with this feature

CLAPO syndrome
MedGen UID:
416522
Concept ID:
C2751313
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.

Professional guidelines

PubMed

Wang MX, Kamel S, Elsayes KM, Guillerman RP, Habiba A, Heng L, Revzin M, Mellnick V, Iacobas I, Chau A
Radiographics 2022 Oct;42(6):1598-1620. doi: 10.1148/rg.210234. PMID: 36190850
Sohail M, Bashir MM, Ansari HH, Khan FA, Assumame N, Awan NU, Chatha AA
J Craniofac Surg 2016 Sep;27(6):e520-4. doi: 10.1097/SCS.0000000000002824. PMID: 27607127
Qiu Y, Lin X, Ma G, Chang L, Jin Y, Chen H, Hu X
Pediatr Dermatol 2015 Mar-Apr;32(2):188-91. Epub 2015 Jan 30 doi: 10.1111/pde.12422. PMID: 25640925

Recent clinical studies

Etiology

Rodriguez-Laguna L, Ibañez K, Gordo G, Garcia-Minaur S, Santos-Simarro F, Agra N, Vallespín E, Fernández-Montaño VE, Martín-Arenas R, Del Pozo Á, González-Pecellín H, Mena R, Rueda-Arenas I, Gomez MV, Villaverde C, Bustamante A, Ayuso C, Ruiz-Perez VL, Nevado J, Lapunzina P, Lopez-Gutierrez JC, Martinez-Glez V
Genet Med 2018 Aug;20(8):882-889. Epub 2018 Feb 15 doi: 10.1038/gim.2017.200. PMID: 29446767
Cao H, Alrejaye N, Klein OD, Goodwin AF, Oberoi S
Orthod Craniofac Res 2017 Jun;20 Suppl 1(Suppl 1):32-38. doi: 10.1111/ocr.12144. PMID: 28643916Free PMC Article
Sohail M, Bashir MM, Ansari HH, Khan FA, Assumame N, Awan NU, Chatha AA
J Craniofac Surg 2016 Sep;27(6):e520-4. doi: 10.1097/SCS.0000000000002824. PMID: 27607127
Sillard L, Léauté-Labreze C, Mazereeuw-Hautier J, Viseux V, Barbarot S, Vabres P, Bessis D, Martin L, Lorette G, Berthier F, Lacour JP
J Pediatr 2011 May;158(5):836-41. Epub 2010 Dec 16 doi: 10.1016/j.jpeds.2010.11.001. PMID: 21167498
Wang L, Chen X, Liu B
Int J Oral Maxillofac Surg 2009 Dec;38(12):1330-3. Epub 2009 Jul 23 doi: 10.1016/j.ijom.2009.06.018. PMID: 19631510

Diagnosis

Kamboj A, Tooley AA, Godfrey KJ, Maher MD, Schubert HD, Kazim M
Orbit 2020 Jun;39(3):221-223. Epub 2019 Oct 28 doi: 10.1080/01676830.2019.1677727. PMID: 31658870
McCuaig CC
Curr Opin Pediatr 2017 Aug;29(4):448-454. doi: 10.1097/MOP.0000000000000518. PMID: 28654575
Cao H, Alrejaye N, Klein OD, Goodwin AF, Oberoi S
Orthod Craniofac Res 2017 Jun;20 Suppl 1(Suppl 1):32-38. doi: 10.1111/ocr.12144. PMID: 28643916Free PMC Article
Sohail M, Bashir MM, Ansari HH, Khan FA, Assumame N, Awan NU, Chatha AA
J Craniofac Surg 2016 Sep;27(6):e520-4. doi: 10.1097/SCS.0000000000002824. PMID: 27607127
Wang L, Chen X, Liu B
Int J Oral Maxillofac Surg 2009 Dec;38(12):1330-3. Epub 2009 Jul 23 doi: 10.1016/j.ijom.2009.06.018. PMID: 19631510

Therapy

Cerejeira D, Vergara-de-la-Campa L, Boixeda P, López-Gutiérrez JC
Actas Dermosifiliogr 2022 May;113(5):505-509. Epub 2021 Oct 5 doi: 10.1016/j.ad.2021.02.020. PMID: 35292145
González-Hermosa MR, Guerra E, Tuduri I, Vicente I, López-Almaraz R
Dermatol Ther 2019 Jul;32(4):e12991. Epub 2019 Jun 20 doi: 10.1111/dth.12991. PMID: 31172613
Qiu Y, Lin X, Ma G, Chang L, Jin Y, Chen H, Hu X
Pediatr Dermatol 2015 Mar-Apr;32(2):188-91. Epub 2015 Jan 30 doi: 10.1111/pde.12422. PMID: 25640925

Prognosis

Ercan TE, Oztunc F, Celkan T, Bor M, Kizilkilic O, Vural M, Perk Y, Islak C, Tuysuz B
J Child Neurol 2013 Jan;28(1):115-9. Epub 2012 Mar 25 doi: 10.1177/0883073812439346. PMID: 22451530
Aypar E, Yildirim MS, Sert A, Ciftci I, Odabas D
Am J Med Genet A 2011 Mar;155A(3):638-41. Epub 2011 Feb 22 doi: 10.1002/ajmg.a.33839. PMID: 21344634
Sillard L, Léauté-Labreze C, Mazereeuw-Hautier J, Viseux V, Barbarot S, Vabres P, Bessis D, Martin L, Lorette G, Berthier F, Lacour JP
J Pediatr 2011 May;158(5):836-41. Epub 2010 Dec 16 doi: 10.1016/j.jpeds.2010.11.001. PMID: 21167498
Juern AM, Glick ZR, Drolet BA, Frieden IJ
J Am Acad Dermatol 2010 Nov;63(5):805-14. Epub 2010 Aug 21 doi: 10.1016/j.jaad.2009.08.066. PMID: 20728246
Wang L, Chen X, Liu B
Int J Oral Maxillofac Surg 2009 Dec;38(12):1330-3. Epub 2009 Jul 23 doi: 10.1016/j.ijom.2009.06.018. PMID: 19631510

Clinical prediction guides

Ma G, Yu Z, Liu F, Wang L, Yu W, Zhu J, Gu H, Liu Y, Cai R, Lin X
Br J Dermatol 2018 Nov;179(5):1109-1114. Epub 2018 Aug 14 doi: 10.1111/bjd.16830. PMID: 29878304
Sohail M, Bashir MM, Ansari HH, Khan FA, Assumame N, Awan NU, Chatha AA
J Craniofac Surg 2016 Sep;27(6):e520-4. doi: 10.1097/SCS.0000000000002824. PMID: 27607127
Capra V, Severino M, Rossi A, Nozza P, Doneda C, Perri K, Pavanello M, Fiorio P, Gimelli G, Tassano E, Di Battista E
Am J Med Genet A 2014 Feb;164A(2):495-9. Epub 2013 Dec 5 doi: 10.1002/ajmg.a.36283. PMID: 24311370
Sillard L, Léauté-Labreze C, Mazereeuw-Hautier J, Viseux V, Barbarot S, Vabres P, Bessis D, Martin L, Lorette G, Berthier F, Lacour JP
J Pediatr 2011 May;158(5):836-41. Epub 2010 Dec 16 doi: 10.1016/j.jpeds.2010.11.001. PMID: 21167498
Mulliken JB, Pensler JM, Kozakewich HP
Plast Reconstr Surg 1993 Sep;92(3):395-403; discussion 404. PMID: 8341737

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...