Gehad Gamal Maghraby

Background: Since its first description by Otto Werner in 1904, patients with Werner syndrome were subjected to misdiagnosis in part, due to the great mimic with systemic sclerosis and the variable constellation of manifestations including dermatologic, ophthalmic, growth disorders and endocrinopathies. Case presentation: We reported two cases with Werner syndrome. One case of a 31-year-old female presented with six-month history of fever, cough, progressive dyspnea, arthritis affecting all large joints and persistent low back pain. At her age and the presence of sclerotic skin lesions, interstitial lung disease and joint tenderness, it was assumed that this was a case of connective tissue disease. However, her incomplete response to steroids and cyclophosphamide prompted a revision of the diagnosis. She developed metastatic carcinomatous deposits in bone. She had a poor outcome and succumbed to malignancy of unknown primary meanwhile, the 25-year-old sibling had a milder phenotype that without proper family history would have been passed unnoticed. Conclusion: This close mimic with systemic sclerosis might mask cases of Werner syndrome in developing countries where no genetic screening is readily available. The cases are illustrative for the confusion that may arise with systemic sclerosis and the difficulty in making the diagnosis in mild cases. Therefore, these descriptions are of clinical value to clinicians treating such patients.

Gastric antral vascular ectasia (GAVE) continues to be a challenge in both diagnosis and treatment. GAVE has a diverse group of associations and presumed causes, including cirrhosis, chronic renal failure and autoimmune connective tissue diseases. However, in most occasions, the management plan of GAVE itself is the same whatever the underlying disease by using Argon plasma coagulation (APC). Herein, we will discuss three cases of systemic sclerosis-associated GAVE presenting with either acute or chronic gastrointestinal bleeding showing variable responses to APC. Anemia and telangiectasia may be the first striking presentation of systemic sclerosis (SSc). Renal artery stenosis, aortic stenosis, widespread cutaneous and mucosal telangiectasia and hypertension seem to be associated with poor prognosis and should prompt rapid intervention and careful follow-up. Moreover, the hunt for molecular underpinnings of the broad array of vascular lesions in SSc has to include von Willebrand factor and endoglin. Eventually, we will review the recent alternatives that can be effective in SSc-GAVE, such as band ligation, hematopoietic stem cells transplantation and immunotherapy.