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Telangiectasia of the oral mucosa

MedGen UID:
870436
Concept ID:
C4024882
Anatomical Abnormality
Synonyms: Angioectasia of the oral mucosa; Angioectasia of the oral mucous membrane; Spider veins of the oral mucosa; Telangiectasia of the oral mucous membrane
 
HPO: HP:0007428

Definition

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTelangiectasia of the oral mucosa

Conditions with this feature

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).

Professional guidelines

PubMed

Nagler AR, Del Rosso J
J Drugs Dermatol 2019 Jun 1;18(6):506. PMID: 31251542
Gonzalez J, Bryant S, Hermes-DeSantis ER
Am J Health Syst Pharm 2018 May 1;75(9):e177-e183. doi: 10.2146/ajhp170241. PMID: 29691259
McDonald J, Bayrak-Toydemir P, Pyeritz RE
Genet Med 2011 Jul;13(7):607-16. doi: 10.1097/GIM.0b013e3182136d32. PMID: 21546842

Recent clinical studies

Etiology

de Paiva Gonçalves V, Onofre MA, Bufalino A, Navarro CM, Cirelli JA, Ortega RM
Gen Dent 2022 Jul-Aug;70(4):67-71. PMID: 35749250
Gonzalez J, Bryant S, Hermes-DeSantis ER
Am J Health Syst Pharm 2018 May 1;75(9):e177-e183. doi: 10.2146/ajhp170241. PMID: 29691259
Frech TM, Pauling JD, Murtaugh MA, Kendall K, Domsic RT
J Clin Rheumatol 2016 Jan;22(1):19-21. doi: 10.1097/RHU.0000000000000339. PMID: 26693622Free PMC Article
Migliore L, Coppedè F, Fenech M, Thomas P
Mutagenesis 2011 Jan;26(1):85-92. doi: 10.1093/mutage/geq067. PMID: 21164187
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

Hyldahl SJ, El-Jaji MQ, Schuster A, Kjeldsen AD
Int J Dermatol 2022 Dec;61(12):1497-1505. Epub 2022 Jul 6 doi: 10.1111/ijd.16320. PMID: 35792874Free PMC Article
Vigarios E, Epstein JB, Sibaud V
Support Care Cancer 2017 May;25(5):1713-1739. Epub 2017 Feb 22 doi: 10.1007/s00520-017-3629-4. PMID: 28224235
McDonald J, Bayrak-Toydemir P, Pyeritz RE
Genet Med 2011 Jul;13(7):607-16. doi: 10.1097/GIM.0b013e3182136d32. PMID: 21546842
da Silva Santos PS, Fernandes KS, Magalhães MH
J Can Dent Assoc 2009 Sep;75(7):527-30. PMID: 19744364
Sharathkumar AA, Shapiro A
Haemophilia 2008 Nov;14(6):1269-80. doi: 10.1111/j.1365-2516.2008.01774.x. PMID: 19141168

Therapy

Nagler AR, Del Rosso J
J Drugs Dermatol 2019 Jun 1;18(6):506. PMID: 31251542
Li S, Wang SJ, Zhao YQ
Medicine (Baltimore) 2018 Aug;97(31):e11687. doi: 10.1097/MD.0000000000011687. PMID: 30075565Free PMC Article
Gonzalez J, Bryant S, Hermes-DeSantis ER
Am J Health Syst Pharm 2018 May 1;75(9):e177-e183. doi: 10.2146/ajhp170241. PMID: 29691259
Vigarios E, Epstein JB, Sibaud V
Support Care Cancer 2017 May;25(5):1713-1739. Epub 2017 Feb 22 doi: 10.1007/s00520-017-3629-4. PMID: 28224235
Foldes EG
Int J Clin Pharmacol Ther Toxicol 1988 Jul;26(7):356-9. PMID: 2974837

Prognosis

Hyldahl SJ, El-Jaji MQ, Schuster A, Kjeldsen AD
Int J Dermatol 2022 Dec;61(12):1497-1505. Epub 2022 Jul 6 doi: 10.1111/ijd.16320. PMID: 35792874Free PMC Article
Schmalz MJ, Radhakrishnan K
World J Gastroenterol 2020 Nov 14;26(42):6582-6598. doi: 10.3748/wjg.v26.i42.6582. PMID: 33268948Free PMC Article
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
Gonzalez E, Gange RW, Momtaz KT
J Am Acad Dermatol 1992 Aug;27(2 Pt 1):220-6. doi: 10.1016/0190-9622(92)70174-e. PMID: 1430360
Maruyama J, Watanabe M, Onodera S, Hasebe N, Yamashita H, Tobise K
Jpn J Med 1989 Sep-Oct;28(5):651-6. doi: 10.2169/internalmedicine1962.28.651. PMID: 2585896

Clinical prediction guides

Hyldahl SJ, El-Jaji MQ, Schuster A, Kjeldsen AD
Int J Dermatol 2022 Dec;61(12):1497-1505. Epub 2022 Jul 6 doi: 10.1111/ijd.16320. PMID: 35792874Free PMC Article
Salah E
Int J Dermatol 2018 Jul;57(7):830-836. Epub 2018 Apr 27 doi: 10.1111/ijd.14015. PMID: 29700807
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
Vigarios E, Epstein JB, Sibaud V
Support Care Cancer 2017 May;25(5):1713-1739. Epub 2017 Feb 22 doi: 10.1007/s00520-017-3629-4. PMID: 28224235
Frech TM, Pauling JD, Murtaugh MA, Kendall K, Domsic RT
J Clin Rheumatol 2016 Jan;22(1):19-21. doi: 10.1097/RHU.0000000000000339. PMID: 26693622Free PMC Article

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