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Hereditary benign telangiectasia(HBT)

MedGen UID:
140803
Concept ID:
C0406502
Disease or Syndrome
Synonyms: HBT; TELANGIECTASIA, GENERALIZED ESSENTIAL
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Hereditary benign telangiectasia (238764001)
 
Cytogenetic location: 5q14
OMIM®: 187260

Clinical features

Diffuse telangiectasis
MedGen UID:
224748
Concept ID:
C1265776
Finding
Telangiectases (small dilated blood vessels) with a diffuse localization.
Diffuse telangiectasis
MedGen UID:
224748
Concept ID:
C1265776
Finding
Telangiectases (small dilated blood vessels) with a diffuse localization.

Recent clinical studies

Diagnosis

Takcı Z, Tekin Ö, Tezer A
Turk J Pediatr 2015 Jan-Feb;57(1):94-7. PMID: 26613229
Cai L, Sun QM, Zang DJ, Zhang JZ
Chin Med J (Engl) 2011 Mar;124(5):795-6. PMID: 21518581
Javidi Z, Maleki M, Mashayekhi V, Nahidi Y, Omidvar Borna A
Int J Dermatol 2006 Jul;45(7):828-30. doi: 10.1111/j.1365-4632.2006.02775.x. PMID: 16863520
Sredoja Tisma V, Dobrić I, Pasić A
Acta Dermatovenerol Croat 2004;12(3):169-72. PMID: 15369642
Puppin D Jr, Rybojad M, Morel P
J Dermatol 1992 Jun;19(6):384-6. PMID: 1401494

Therapy

Molho-Pessach V, Agha Z, Libster D, Lerer I, Burger A, Jaber S, Abeliovich D, Zlotogorski A
J Am Acad Dermatol 2007 Nov;57(5):814-8. Epub 2007 Jul 20 doi: 10.1016/j.jaad.2007.06.024. [Epub ahead of print] PMID: 17658662

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