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Hereditary Benign Telangiectasia


  • Herein, we present two sporadic cases of HBT that were admitted to the dermatology clinic for multiple punctate telangiectasias surrounded by anemic halos, favoring sun-exposed areas.[ncbi.nlm.nih.gov]
  • HBT and CM have usually been considered distinct disorders, based on the different clinical presentation of cutaneous lesions.[jmg.bmj.com]
  • The disorder has been previously mapped to a 7Mb interval on chromosome 5q14 (CMC1 locus) in an Italian pedigree with randomly distributed telangiectases. OBJECTIVES: A large pedigree of HBT with photodistributed lesions is described.[ncbi.nlm.nih.gov]
  • Acknowledgments This work was financed by the Italian Ministry of Health by grant “Ricerca Corrente 2003”. REFERENCES Rook A , Wilkinson D, Ebling J.(eds). Textbook of dermatology, 5th ed. Oxford: Blackwell Scientific Publications, 1992 .[jmg.bmj.com]
  • […] for regional founder effects of ACVRL1 mutations in French and Italian patients.[ojrd.biomedcentral.com]
  • As such, it should be useful to a varied audience, including not only the oral and maxillofacial surgeon but also the oral pathologist, the practitioner of oral medicine, and members of the craniofacial team--the orthodontist, pediatric dentist, speech[books.google.com]
Dermal Thinning
  • thin walled blood vessels. 1 These observations suggest that HBT and CM represent variable clinical presentations of the same disorder and linkage of HBT to CMC1 corroborates this hypothesis.[jmg.bmj.com]
  • الصفحة 151 - Follicular keratosis and verrucous lesions on the extensor surfaces of the arms and legs and on the buttocks (36%) (Figures 11.5 and 11.6) • Palmopiantar hyperhidrosis (20%) Extracutaneous lesions • Cornea! ‏[books.google.com]


  • (See Workup .) Indications for intervention in OWRD vary according to site of involvement and presentation. In mild cases, no treatment is necessary.[emedicine.medscape.com]


  • Abstract Hereditary benign telangiectasia is an idiopathic condition that causes considerable cosmetic embarrassment but has eluded successful treatment due to its extensive nature.[ncbi.nlm.nih.gov]
  • This era was followed by improved environmental factors which operate to produce methods of medical treatment, introduction congenital cardiac malformations.[books.google.com]
  • When treatment is requested for cosmetic reasons, the following treatments may be considered.[dermnetnz.org]


  • Due to the lack of systemic involvement, benign hereditary telangiectasia has an excellent prognosis and medical intervention is not usually required. When treatment is requested for cosmetic reasons, the following treatments may be considered.[dermnetnz.org]
  • Therefore, the prognosis is good if CTS occurs by itself (i.e., it is not associated with other conditions) However, the prognosis can be guarded if it coexists with other vascular malformations as part of mixed brain malformations Additional and Relevant[dovemed.com]
  • Prognosis is generally poor.[genedx.com]
  • The prognosis depends on the disease severity and especially hepatic, pulmonary and CNS involvement.[lecturio.com]
  • Age In one report of 13 patients, the average age of onset for generalized essential telangiectasia was 38 years. [3] Prognosis The development of telangiectases may be gradual or rapid. Usually, telangiectases tend to progress to other sites.[emedicine.medscape.com]


  • The etiology remains unknown. The condition causes only cosmetic disability and is not associated with any other diseases.[ncbi.nlm.nih.gov]
  • Their etiology is not precisely century with the first clinical recognition of known, so we have included chapters that dis symptoms and patterns for diagnosis of car cuss many aspects of congenital cardiac mal diovascular diseases.[books.google.com]
  • Etiology Etiology and pathogenesis of generalized essential telangiectasia remain unknown.[emedicine.medscape.com]
  • Etiology of HHT Causes of HHT As already mentioned, it is an autosomal dominant disorder, with 5 genetic types and homozygous condition being incompatible with life.[lecturio.com]
  • (Etiology) Currently, the cause of Capillary Telangiectasia is not known. However, if the condition is associated with Osler-Weber-Rendu syndrome, mutation(s) in the ACVRL1, ENG, and SMAD4 genes are known to cause malformations in the brain.[dovemed.com]


  • Epidemiologically, it is substantially more likely that this represents sporadic hypothyroidism than a partial phenotype attributed to maternal mosaicism for NKX2-1 . However, mosaicism cannot be excluded.[ng.neurology.org]
  • License: Public Domain Epidemiology of HHT Frequency of HHT HHT occurs with equal frequency in both males and females. While the geographic distribution of the disease is wide, it is more commonly seen in the Whites.[lecturio.com]
  • Epidemiology Epistaxis is extremely common. The majority of people will have had at least one nosebleed, usually as a result of trauma, in the course of their lifetime.[patient.info]
  • […] clinicopathological correlation in order for a diagnosis to be made. [7] One patient exhibited symptoms that might indicate an association between generalized essential telangiectasia, corneal neovascularization, and thoracic aneurysm formation. [8] Epidemiology[emedicine.medscape.com]
  • Silverman EK, Chapman HA, Drazen JM, et al. (1998) Genetic epidemiology of severe, early‐onset chronic obstructive pulmonary disease. Risk to relatives for airflow obstruction and chronic bronchitis.[els.net]
Sex distribution
Age distribution


  • Pathophysiology The pathophysiologic factors causing blood vessel dilatation in generalized essential telangiectasia are yet to be elaborated. Familial cases have been reported with an autosomal dominant pattern of inheritance.[emedicine.medscape.com]
  • Pathophysiology of Spider Angioma Spider angiomas occur as a result of the dilation of preexisting vessels. It is not a vascular proliferation. That means new vessels are not formed, only preexisting vessels dilate.[medcaretips.com]
  • Pathophysiology of HHT A defect in TGF-B superfamily receptor results in abnormal architecture of vessels and consequent malformations and aneurysms. This combined with abnormal repair results in lesions.[lecturio.com]
  • A greater understanding of the genetic basis of pulmonary conditions has provided new insights into their underlying pathophysiology and helped in some cases to shed light on more common sporadic forms.[els.net]
  • "Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment". Blood Rev. 24 (6): 203–19. doi : 10.1016/j.blre.2010.07.001. hdl : 10044/1/22167. PMID 20870325.[en.wikipedia.org]


  • Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive[jamanetwork.com]
  • Presently, there are no known methods or guidance available for the prevention of Capillary Telangiectasia.[dovemed.com]
  • Furthermore, some treatments are applied to prevent the development of common complications. [7] Chronic nosebleeds and digestive tract bleeding can both lead to anemia; if the bleeding itself cannot be completely stopped, the anemia requires treatment[en.wikipedia.org]
  • Use of an air-eliminating filter on all intravenous lines to prevent paradoxical air embolism. Avoidance of SCUBA diving to prevent decompression-related complications.[clinicaladvisor.com]
  • The presented investigation was initiated to analyze early presenting symptoms in HHT, which should help to make the diagnosis at a young age and thus prevent potential complications from occult visceral arteriovenous malformations (AVM), which have commonly[link.springer.com]

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