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Hereditary benign telangiectasia(HBT)

MedGen UID:
140803
Concept ID:
C0406502
Disease or Syndrome
Synonyms: HBT; TELANGIECTASIA, GENERALIZED ESSENTIAL
SNOMED CT: Hereditary benign telangiectasia (238764001)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0008534
OMIM®: 187260
Orphanet: ORPHA280774

Definition

A rare skin disease characterized by widespread cutaneous telangiectases usually first appearing on the lower limbs and slowly progressing upwards to involve the trunk and arms. The lesions can be diffuse, localized, macular, plaque-like, discrete, or confluent. Recurrent bleeding from the skin and mucous membranes is not a common feature. Likewise, co-existing epidermal or dermal abnormalities, like atrophy, depigmentation, or purpura, are absent. The condition is non-hereditary, and to establish the diagnosis, other primary and secondary telangiectases must be excluded. [from ORDO]

Clinical features

From HPO
Vascular dilatation
MedGen UID:
8076
Concept ID:
C0002940
Pathologic Function
Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
Diffuse telangiectasia
MedGen UID:
224748
Concept ID:
C1265776
Finding
Telangiectases (small dilated blood vessels) with a diffuse localization.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary benign telangiectasia

Professional guidelines

PubMed

Purcell E, Condon C
Br J Plast Surg 2004 Jul;57(5):453-5. doi: 10.1016/j.bjps.2003.11.023. PMID: 15191828

Recent clinical studies

Diagnosis

Cvenkel K, Hosta V, Starbek Zorko M
Acta Dermatovenerol Alp Pannonica Adriat 2022 Mar;31(Suppl):S14-S17. PMID: 35339136
Sredoja Tisma V, Dobrić I, Pasić A
Acta Dermatovenerol Croat 2004;12(3):169-72. PMID: 15369642
Zahorcsek Z, Schneider I
Dermatology 1994;189(3):286-8. doi: 10.1159/000246863. PMID: 7949486
Gold MH, Eramo L, Prendiville JS
Pediatr Dermatol 1989 Sep;6(3):194-7. doi: 10.1111/j.1525-1470.1989.tb00816.x. PMID: 2798257
Wells RS, Dowling GB
Br J Dermatol 1971 Jan;84(1):93-4. doi: 10.1111/j.1365-2133.1971.tb14205.x. PMID: 5573189

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. PMID: 17658662

Prognosis

Jaquinandi V, Stivalet O, Grabas M
Vasc Med 2019 Jun;24(3):261-262. Epub 2018 Oct 24 doi: 10.1177/1358863X18803162. PMID: 30355073

Clinical prediction guides

Jaquinandi V, Stivalet O, Grabas M
Vasc Med 2019 Jun;24(3):261-262. Epub 2018 Oct 24 doi: 10.1177/1358863X18803162. PMID: 30355073

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