Endocrine Abstracts

Introduction: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease, which pathogenesis remains elusive. Patients with SLE have a higher overall risk of malignancy than the general population. Herein, we report an original association of SLE with ovarian and thyroid malignancies.Case report: A 52-year-old woman was followed-up for 13 years in the dermatology department for SLE. Her disease remained stable under hydroxychloroquin with SLEDAI ...

Introduction: Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis, with specific clinical features. Herein, we report a case of RTS with RECQL4 mutation, unusually associated with hypercortisolemia.Case report: An 18-year-old girl, born to consanguinous parents, with a history of xeroderma pigmentosum (XP) in two cousins, has been followed-up for RTS, since the age of 3 years. The diagnosis of RTS was made based on photosensitivi...