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Lip telangiectasia

MedGen UID:
347522
Concept ID:
C1857697
Finding
Synonyms: Lip telangiectases; Telangiectasia of the lips
 
HPO: HP:0000214

Definition

Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Lip telangiectasia

Conditions with this feature

Reynolds syndrome
MedGen UID:
450547
Concept ID:
C0748397
Disease or Syndrome
An autoimmune disorder characterized by the association of primary biliary cirrhosis with limited cutaneous systemic sclerosis. Onset occurs between 30-65 years. Occurs sporadically, but rare familial cases with an unknown inheritance pattern have been observed. There is no cure and management is mainly supportive.
Alpha-N-acetylgalactosaminidase deficiency type 2
MedGen UID:
324539
Concept ID:
C1836522
Disease or Syndrome
Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder with atypical features. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy (609241); type II, also known as Kanzaki disease, is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder (see 609241) with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).
Telangiectasia, hereditary hemorrhagic, type 2
MedGen UID:
324960
Concept ID:
C1838163
Disease or Syndrome
Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.
Hereditary hemorrhagic telangiectasia type 4
MedGen UID:
341824
Concept ID:
C1857688
Disease or Syndrome
Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.
Telangiectasia, hereditary hemorrhagic, type 1
MedGen UID:
1643786
Concept ID:
C4551861
Disease or Syndrome
Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.

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
Vase P, Lorentzen M
J Laryngol Otol 1983 May;97(5):427-9. doi: 10.1017/s0022215100094354. PMID: 6222125

Recent clinical studies

Etiology

Tuček L, Sirák I, Hodek M, Kašaová L, Grepl J, Paluska P, Pohanková D, Hruška L, Vošmik M, Petera J
Brachytherapy 2023 Jul-Aug;22(4):496-502. Epub 2023 Apr 2 doi: 10.1016/j.brachy.2023.02.001. PMID: 37015847
Gaines JJ, Gilbert BC, Gossage JR, Parker W, Reddy A, Forseen SE
AJNR Am J Neuroradiol 2022 Nov;43(11):1603-1607. Epub 2022 Oct 20 doi: 10.3174/ajnr.A7677. PMID: 36265891Free PMC Article
Cubiró X, Garcia-Melendo C, Morales-Munera CE, Roé-Crespo E, Riera-Mestre A, Mora-Luján JM, Iriarte A, Puig L, Baselga E
Dermatol Ther 2021 Nov;34(6):e15124. Epub 2021 Sep 13 doi: 10.1111/dth.15124. PMID: 34486206
Scaglione C, Salvi F, Riguzzi P, Vergelli M, Tassinari CA, Mascalchi M
J Neurol Neurosurg Psychiatry 2001 Sep;71(3):390-3. doi: 10.1136/jnnp.71.3.390. PMID: 11511717Free PMC Article
Nagy G, Kovács J, Zeher M, Czirják L
Oral Surg Oral Med Oral Pathol 1994 Feb;77(2):141-6. doi: 10.1016/0030-4220(94)90276-3. PMID: 8139831

Diagnosis

Cvenkel K, Hosta V, Starbek Zorko M
Acta Dermatovenerol Alp Pannonica Adriat 2022 Mar;31(Suppl):S14-S17. PMID: 35339136
Wollina U, Goldman A
Dermatol Ther 2020 Jul;33(4):e13558. Epub 2020 May 25 doi: 10.1111/dth.13558. PMID: 32390286
Khaitan BK, Gupta V, Rai M, Garg A
Am J Med 2017 May;130(5):537-538. Epub 2017 Feb 1 doi: 10.1016/j.amjmed.2017.01.008. PMID: 28159602
Layegh P, Sharifi-Sistani N, Abadian M, Moghiman T
Indian J Dermatol Venereol Leprol 2008 Nov-Dec;74(6):632-4. doi: 10.4103/0378-6323.45109. PMID: 19171990
Peng YF, Chen LK, Chou YH, Chang FC, Hwang SJ
Zhonghua Yi Xue Za Zhi (Taipei) 2002 Dec;65(12):614-8. PMID: 12636208

Therapy

Cubiró X, Garcia-Melendo C, Morales-Munera CE, Roé-Crespo E, Riera-Mestre A, Mora-Luján JM, Iriarte A, Puig L, Baselga E
Dermatol Ther 2021 Nov;34(6):e15124. Epub 2021 Sep 13 doi: 10.1111/dth.15124. PMID: 34486206
Wollina U, Goldman A
Dermatol Ther 2020 Jul;33(4):e13558. Epub 2020 May 25 doi: 10.1111/dth.13558. PMID: 32390286
Hamer MA, Jacobs LC, Lall JS, Wollstein A, Hollestein LM, Rae AR, Gossage KW, Hofman A, Liu F, Kayser M, Nijsten T, Gunn DA
Skin Res Technol 2015 Nov;21(4):392-402. Epub 2015 Jan 20 doi: 10.1111/srt.12205. PMID: 25601617
Layegh P, Sharifi-Sistani N, Abadian M, Moghiman T
Indian J Dermatol Venereol Leprol 2008 Nov-Dec;74(6):632-4. doi: 10.4103/0378-6323.45109. PMID: 19171990
Lai TF, Leibovitch I, James C, Huilgol SC, Selva D
Acta Ophthalmol Scand 2004 Dec;82(6):765-7. doi: 10.1111/j.1600-0420.2004.00335.x. PMID: 15606479

Prognosis

Kemel K, Baillet-Guffroy A, Faivre V, Laugel C
J Pharm Sci 2019 Oct;108(10):3366-3371. Epub 2019 Jun 28 doi: 10.1016/j.xphs.2019.06.018. PMID: 31255683
Olczak-Kowalczyk D, Krasuska-Sławińska E, Gozdowski D, Kowalczyk W, Pawłowska J
Acta Paediatr 2018 May;107(5):886-892. Epub 2018 Jan 24 doi: 10.1111/apa.14213. PMID: 29297940
Scaglione C, Salvi F, Riguzzi P, Vergelli M, Tassinari CA, Mascalchi M
J Neurol Neurosurg Psychiatry 2001 Sep;71(3):390-3. doi: 10.1136/jnnp.71.3.390. PMID: 11511717Free PMC Article
Craig RD, Purser JM, Lessells AM, Hufton AP
Br J Plast Surg 1985 Apr;38(2):148-55. doi: 10.1016/0007-1226(85)90043-8. PMID: 3986414

Clinical prediction guides

Tuček L, Sirák I, Hodek M, Kašaová L, Grepl J, Paluska P, Pohanková D, Hruška L, Vošmik M, Petera J
Brachytherapy 2023 Jul-Aug;22(4):496-502. Epub 2023 Apr 2 doi: 10.1016/j.brachy.2023.02.001. PMID: 37015847
Cubiró X, Garcia-Melendo C, Morales-Munera CE, Roé-Crespo E, Riera-Mestre A, Mora-Luján JM, Iriarte A, Puig L, Baselga E
Dermatol Ther 2021 Nov;34(6):e15124. Epub 2021 Sep 13 doi: 10.1111/dth.15124. PMID: 34486206
Salah E
Int J Dermatol 2018 Jul;57(7):830-836. Epub 2018 Apr 27 doi: 10.1111/ijd.14015. PMID: 29700807
Hamer MA, Jacobs LC, Lall JS, Wollstein A, Hollestein LM, Rae AR, Gossage KW, Hofman A, Liu F, Kayser M, Nijsten T, Gunn DA
Skin Res Technol 2015 Nov;21(4):392-402. Epub 2015 Jan 20 doi: 10.1111/srt.12205. PMID: 25601617
Lapunzina P, Gairí A, Delicado A, Mori MA, Torres ML, Goma A, Navia M, Pajares IL
Am J Med Genet A 2004 Sep 15;130A(1):45-51. doi: 10.1002/ajmg.a.30235. PMID: 15368495

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