Prominent Telangiectasia Associated with Marked Bleeding in CREST Syndrome

Abstract

A 64-year-old woman with CREST syndrome developed prominent telangiectases mimicking hereditary hemorrhagic telangiectasia (HHT) of Osler-Rendu-Weber. We have been following her since she first came to us with discrete telangiectatic mats and Raynaud's phenomenon 11 years ago. Telangiectatic lesions have been seen on her larynx and esophagus in addition to commonly affected sites. She has experienced spontaneous epistaxis and marked bleeding from the lesions on her lips, oral mucous membrane, and soles. This case illuminates new aspects of telangiectasia in CREST syndrome.

The diagnostic quandary of hereditary haemorrhagic telangiectasia vs. CREST syndrome.

“…The detection of ACA has been reported to be a useful test to distinguish the CREST syndrome from HHT 9 . Unlike in other reports, 4,9 the presence of ACA did not change the diagnosis from HHT to the CREST syndrome in our patient. The large AVMs of the lungs, which have never been described in patients with the CREST syndrome, and the biopsy findings of the telangiectasia (discussed below) support the diagnosis of HHT, although the autosomal dominant inheritance pattern of HHT could not established.…”

“…In the case report by Ueda et al . of a patient with severe GI bleeding who had the CREST syndrome, the authors could not exclude the possibility of coexistence of HHT 4 …”

“…In 1964, Winterbauer delineated clinical features of the CREST syndrome ( c alcinosis, R aynaud’s phenomenon, o e sophageal involvement, s clerodactyly, t elangiectasia), comparing and contrasting it with hereditary haemorrhagic telangiectasia (HHT) 1 . Subsequently, there have been several more reports of the CREST syndrome simulating HHT 2–4 . We report a patient with both the CREST syndrome and HHT, and discuss the distinguishing features of the two diseases.…”

Hereditäre hämorrhagische Teleangiektasie (Morbus Osler)

“…Beim CREST-Syndrom können sehr ähnliche kutane und mukokutane Teleangiektasien auftreten, sodass die Differentialdiagnose schwierig werden kann [68]. Beim CREST-Syndrom können sehr ähnliche kutane und mukokutane Teleangiektasien auftreten, sodass die Differentialdiagnose schwierig werden kann [68].…”

Fatal scleroderma renal crisis caused by gastrointestinal bleeding in a patient with scleroderma, Sjögren's syndrome and primary biliary cirrhosis overlap

“…These lesions of the skin commonly occur in SSc and similar lesions have also been observed in the mucosal membranes causing severe acute or chronic blood loss. [8][9][10][11][12][13][14][15][16][17][18][19] Another specific form of vascular malformation appearing in the gastrointestinal tract is the gastric antral vascular ectasia, or 'watermelon stomach' , and is characterized by prominent stripes of ectatic vascular tissue in the antral region of the stomach similar to the stripes on a watermelon. 4,5,20 -22 Primary biliary cirrhosis (PBC) is a chronic progressive cholestatic liver disease characterized by immune-mediated destruction of intrahepatic bile ducts, inflammation within the portal tracts and the development of fibrosis, leading to cirrhosis.…”