ESPE Abstracts

Background: Acanthosis nigricans (AN) is a dermatosis characterised by velvety hyperpigmentation, skin thickening, and papillomatosis. AN is generally associated with endocrine disorders (diabetes mellitus, obesity, polycystic ovary syndrome), drugs, and malignancy. In rare cases, it can be unrelated to any systemic disease. Here, we report on a 5-year-old boy from Turkey with diffuse, progressive skin hyperpigmentation.Case report: He was born in a non-...

Background: Van Wyk–Grumbach syndrome (VWGS) is characterized by breast development, uterine bleeding and multi-cystic ovaries in the presence of long-lasting primary hypothyroidism.Objective and hypotheses: The pathophysiology of VWGS involves a complex mechanism, which is at least partly mediated by the direct action of TSH and FSH receptors.Method: We present a girl with Down syndrome having typical feature...

Background: Hereditary vitamin D-resistant rickets (HVDRR) is a rare disease caused by mutations in vitamin d receptor (VDR). Patients with HVDRR are usually treated with intravenous calcium (i.v.-Ca) therapy via a central catheter. However, central catheter-related complications can cause important morbidity. In this report, we described four patients with HVDRR from different families. In three of these cases we used a novel therapeutic regime of intermittent IV-Ca ...