Generalized essential telangiectasia

Abstract

A 43-year-old woman presented with a 1-year history of telangiectatic lesions on her lower legs. The lesions progressively spread to involve her thighs and left arm. She had no family or personal history of recurrent haemorrhage or telangiectases. Her general health was unaffected. The diagnosis of generalized essential telangiectasia was made on the basis of clinical presentation and investigations. Generalized essential telangiectasia is a rare condition that can only be diagnosed if other primary and secondary telangiectasias are excluded. It is probably under-reported, with patients mistakenly diagnosed with atypical hereditary haemorrhagic telangiectasia.

Erythematous macules in a 14-year-old girl

“…Extracutaneous involvement of the oral mucosa and conjunctivae has also been documented. Standard laboratory tests give normal results 1–4 …”

“…As the main differential diagnosis, atypical hereditary haemorrhagic telangiectasia (Rendu–Weber–Osler syndrome) has to be considered. This is an inherited autosomal dominant disease characterized by easily bleeding telangiectases on the skin and mucosal surfaces that are associated with the presence of arteriovenous malformations in multiple organ systems, often presenting with recurrent haemorrhages 2 . The differential diagnosis also includes telangiectasia macularis eruptiva perstans, multiple naevi aranei and ataxia–telangiectasia 1–4 …”

An unusual presentation of generalized essential telangiectasia

“…GET is a rare disorder, and the diagnosis is considered only after systemic causes have been excluded . The skin lesions represent capillary dilatation within the superficial dermis, and so are readily blanched by external pressure .…”

“…They usually start on the lower extremities, as they had done on our patient's ankles, and progress proximally to involve the trunk and upper limbs . The lesions are usually asymptomatic, but mild symptoms such as pruritus and tingling have been reported . More severe symptoms such as bleeding should raise suspicion of alternative diagnoses such as hereditary haemorrhagic telangiectasia.…”

Mattenartig konfigurierte Teleangiektasien

“…Selten beschrieben, jedoch wahrscheinlich auch oft fehldiagnostiziert, betreffen die generalisierten essentiellen Teleangiektasien häufi g Frauen im mittleren Alter [ 2 ] . Die Pathogenese ist unbekannt, ein komplexer dynamischer Prozess mit unterschiedlichen Entstehungsmechanismen wird vermutet [ 4 ] .…”