Endocrine Abstracts

Introduction: Hidradenitis suppurativa (HS), also known as acne in-versa is a chronic inflammato-ry dermatosis. Emerging evidence suggests that HS is associated with other comorbidities, while data concerning the coexistence of HS and Down syndrome (DS) are scarce. We report the case of a young male affected by DS and HS that suffers from multiple endocrine disturbances.Observation: A 23-year-old overweight male (BMI 32 kg/m2) with a 9-year hi...

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: Addison’s disease was first described in 1855 by Thomas Addison as a result of adrenal insufficiency. It is most common in females aged 30–50 years. Symptoms are often non specific.Weakness and weight loss are universal features of Addison’s disease. It can present to a dermatologist in different ways. We present a case of a young female who reported to dermatology outdoor with a typical melasma-like eruption over her face.Ca...

Introduction: Necrobiosis lipoidica (NL) is a rare, chronic granulomatous cutaneous disease that most often affects the lower extremities. The etiology of the condition is unknown but there appears to be some association with diabetes mellitus. Perforating necrobiosis lipoidica (PNL) is a very rare variant of NL characterized by trans-epidermal collagen elimination. We present a case of type II diabetes patient with disseminated perforating necrobiosis lipoidica (PNL).<p c...

Introduction: Scleredema is a rare connective-tissue disorder characterized by diffuse, non-pitting induration of the skin. Scleredema is divided into three types. Pathogenesis is largely unknown. We present a case of a 56-year-old woman with non insulin-dependent diabetes mellitus who presented with a progressive history of thickening of the skin on her back.Case report: A 56-year-old woman, suffered from type 2 diabetes diagnosed 15 years ago, presente...

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...