Hereditary hemorrhagic telangiectasia - Nail and Distal Digit
HHT is a multisystem disease with most symptoms typically presenting in adulthood, in the second or third decade, and most experiencing 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.
Epistaxis is the most common and earliest sign of disease, presenting in childhood, with an average age of onset of 12 years. Telangiectasia presents later in life ranging from postpubescent years to adulthood. Telangiectasias can affect the skin, nervous system, and gastrointestinal (GI) and genitourinary tracts. Mucocutaneous lesions are seen most frequently on the face, lips, tongue, oral mucosa, and hands. Nasal and GI lesions are common. Bleeding may occur within the upper or lower GI tract and can lead to iron-deficiency anemia. Pulmonary AVMs can cause hypoxemia, pulmonary hemorrhage, shunts, and paradoxical embolic disease (eg, stroke) due to disruption in blood flow. 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 and death. Paraplegia can result from spinal AVMs. The spleen and urinary tract can also be involved.
In the nail unit, subungual hemorrhages and telangiectasias may be evident.
I78.0 – Hereditary hemorrhagic telangiectasia
21877004 – Hereditary hemorrhagic telangiectasia
- The telangiectasias of HHT are similar to those seen in CREST syndrome; however, recurring nosebleeds and mucosal hemorrhage are not features of CREST.
- HHT does not have the central punctum that appears in spider angiomas associated with chronic liver disease.
- Similar nail lesions may be seen in subacute bacterial endocarditis.