GET 1_0612 Derm Dx
GET 2_0612 Derm Dx
GET 3_0612 Derm Dx
GET 4_0612 Derm Dx
A 60-year-old white man presents with a chief complaint of red spots on his trunk and extremities that have developed during the past 25 years. Besides obesity, the patient has no significant past medical history.
He is not taking any medications, and a recent physical exam including a complete metabolic panel was unremarkable. The patient is HIV and hepatitis C negative and has been vaccinated against hepatitis A and B. Family history is unremarkable. On physical exam, you note confluent groupings of telangiectasias. What’s your diagnosis?
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Telangiectasias are small-dilated blood vessels of the skin, visible with the naked eye. They appear red-to-purple in color and are blanchable. Telangiectasias result from dilation of existing vessels rather than the growth of new vessels and arise in numerous clinical settings including various congenital diseases, photoaging, autoimmune connective-tissue diseases, pregnancy and liver disease.
This is a case of generalized essential telangiectasia (GET). In GET, telangiectasias appear over large areas of the body in the absence of preceding skin lesions. Onset is between ages 20 and 50 years, and women are affected with greater frequency than men.
GET is widespread, progressive and permanent. Although conjunctival telangiectasias are sometimes seen, there is an absence of systemic symptoms. Gastrointestinal bleeding has been reported infrequently. Most cases are idiopathic, but familial cases have been reported.
Clinical diagnosis is based on the presence of widespread acquired telangiectasias in the absence of another predisposing condition.
Collagenous vasculopathy (CV) is a condition that is clinically similar to GET with the exception that it favors males. CV and GET are distinguished on histological grounds. In GET, biopsies demonstrate thin-walled dilated vessels in the upper dermis, whereas in CV the vessels have thickened walls.
Unilateral nevoid telangiectasia is a congenital or acquired condition in which telangiectasias are limited to the trigeminal or upper cervical dermatomes of the face, neck and/or upper shoulder. Acquired unilateral nevoid telangiectasia is associated with conditions of estrogen excess, such as pregnancy and liver disease.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant condition characterized by telangiectasias of the skin and mucous membranes, as well as arteriovenous malformations of the gastrointestinal tract and other organs. HHT skin lesions are distributed on the tongue, lips, face, nasal mucosa (causing frequent epistaxis), hands and fingertips.
Ataxia telangiectasia, also known as Louis-Bar syndrome, is an autosomal recessive disorder characterized by ataxia, short stature, telangiectasias, immunodeficiency and increased lymphoma risk. It is associated with to mutations in the ATM gene.
If desired for cosmetic reasons, treatment can be attempted with lasers that specifically target vascular lesions. However, patients should be informed that capillary telangiectases are often refractory to treatment and may still remain after multiple treatments.
In this case, the diagnosis of GET was suspected on clinical grounds and confirmed with skin biopsy (distinguishing it from CV). The patient declined treatment.
Adam Rees, MD, is a graduate of the University of California Los Angeles School of Medicine and a resident in the Department of Dermatology at Baylor College of Medicine in Houston.
1. Bolognia J, Jorizzo JL and Rapini RP. “Chapter 106: Other Vascular Disorders.” Dermatology. St. Louis, Mo.: Mosby/Elsevier, 2008.
2. James WD, Berger TG, Elston DM et al. “Chapter 35: Cutaneous Vascular Diseases.” Andrews’ Diseases of the Skin: Clinical Dermatology. Philadelphia: Saunders Elsevier, 2006.