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Hereditary hemorrhagic telangiectasia - Skin
See also in: External and Internal Eye,Nail and Distal Digit,Oral Mucosal Lesion
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Hereditary hemorrhagic telangiectasia - Skin

See also in: External and Internal Eye,Nail and Distal Digit,Oral Mucosal Lesion
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Contributors: Noah Craft MD, PhD, Lindy P. Fox MD, Lowell A. Goldsmith MD, MPH, Michael D. Tharp MD
Other Resources UpToDate PubMed

Synopsis

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, is an autosomal dominant hereditary disease (occasional cases are sporadic) causing mucocutaneous and visceral telangiectases and arteriovenous malformations (AVMs). Several genetic forms exist: Type 1 with a mutation in endoglin on chromosome 9 (ENG), Type 2 with a mutation in an activin receptor-like kinase 1 gene on chromosome 12 (ACVRL1), Type 3 with an as yet undefined defect, and juvenile polyposis/hereditary hemorrhagic telangiectasia with mutations in the gene SMAD4. The prevalence of pulmonary and cerebral AVMs is higher in the Type 1, while hepatic AVMs are more common in Type 2. Juvenile polyposis/HHT is the only one with intestinal polyps and may also have AVMs.

HHT is a multisystem disease; telangiectasias can affect the skin, nervous system, and gastrointestinal and genitourinary tracts. Mucocutaneous lesions are seen most frequently on the face, lips, tongue, oral mucosa, and hands. Nasal and GI lesions are common, and epistaxis is the most frequent symptom. Bleeding may occur within the upper or lower GI tract and can lead to anemia. Portal hypertension, biliary tract disease, and high-output heart failure may occur from intrahepatic shunts. Hemorrhage within the brain or spinal cord can cause significant neurologic defects. Pulmonary A-V fistulas with resultant hypoxia are a frequent complication. Due to the wide spectrum of the disease, patients can present at any age; however, most experience the onset of symptoms by age 20. There is no apparent race or sex predilection. The overall prognosis is good, and most patients have a normal life expectancy.

For more information, see OMIM.

Codes

ICD10CM:
I78.0 – Hereditary hemorrhagic telangiectasia

SNOMEDCT:
21877004 – Hereditary hemorrhagic telangiectasia

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Last Updated: 09/04/2018
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Hereditary hemorrhagic telangiectasia - Skin
See also in: External and Internal Eye,Nail and Distal Digit,Oral Mucosal Lesion
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Hereditary hemorrhagic telangiectasia : Buccal mucosa, Hematuria, Lips, Tongue, Conjunctival injection, Epistaxis, Hematemesis, Hemoptysis, Blanching macules, Telangiectasias
Clinical image of Hereditary hemorrhagic telangiectasia
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