We report a 37-year-old man who had a cutaneous marker of tuberous sclerosis with angiofibromas, periungal fibromas and who also showed bilateral verrucous hemangiomas on buttock. It is not known whether there is association between verrucous hemangioma and tuberous sclerosis, but there are some evidence suggest a more than chance association. We describe a case of bilateral verrucous hemangiomas combined with tuberous sclerosis.
Adult ; Angiofibroma ; Buttocks ; Fibroma ; Hemangioma* ; Humans ; Tuberous Sclerosis*

In this study, the authors investigated whether death of vascular smooth muscle cell (VSMC) had a pathological pertinence. Conditioned media obtained from rat aorta smooth muscle cell (SMC) that were induced death by expressing FADD in the absence of tetracycline (FADD-SMC) triggered death of normal SMC. DNA fragmentation and caspase-3 activation were observed in dying SMC by conditioned media. FADD-SMC showed transcriptional activation of tumor necrosis factor (TNF)-alpha. Conditioned medium contained TNF-alpha, indicating secretion of the cytokine from dying FADD-SMC. It was investigated if secreted TNF-alpha was functional. Conditioned medium activated ERK and p38 MAPK pathways and induced MMP-9 expression, whereas depletion of the cytokine with its soluble receptor (sTNFR) remarkably inhibited induction of MMP-9 by conditioned medium. These findings suggest that TNF-alpha in conditioned medium seems to be active. Then, contribution of TNF-alpha on death-inducing activity of conditioned medium was examined. Depletion of TNF-alpha with soluble TNF-alpha receptor decreased the death activity of conditioned medium by 35%, suggesting that TNF-alpha play a partial role in the death activity. Boiling of medium almost completely abolished the death-inducing activity, suggesting that other heat labile death inducing proteins existed in conditioned medium. Taken together, these results indicate that SMC undergoing death could contribute to inflammation by expressing inflammatory cytokines and pathological complications by inducing death of neighboring cells.
Animals ; Aorta ; Apoptosis ; Caspase 3 ; Culture Media, Conditioned* ; Cytokines ; DNA Fragmentation ; Hot Temperature ; Inflammation ; Muscle, Smooth* ; Muscle, Smooth, Vascular ; Myocytes, Smooth Muscle* ; p38 Mitogen-Activated Protein Kinases ; Rats ; Tetracycline ; Transcriptional Activation ; Tumor Necrosis Factor-alpha

Systemic lupus erythematosus (SLE) is a chronic inflammatory disease of unknown cause, and is characterized by appearance of various autoantibodies and multiple organ involvement. Some of the systems commonly involved in SLE include the muscle and joints, brain and peripheral nervous system, lungs, heart, kidneys, skin, serous membranes, and component of blood. The clinical manifestations of SLE is protean, overlap with other illnesses, and are often subtle. However there are few documented reports on SLE associated with Crohn's disease in other countries and no reporting case in Korea. We experienced a 30-year-old female patient who was admitted for right leg swelling and diagnosed as SLE with Crohn's disease.
Adult ; Autoantibodies ; Brain ; Crohn Disease* ; Female ; Heart ; Humans ; Joints ; Kidney ; Korea ; Leg ; Lung ; Lupus Erythematosus, Systemic* ; Lupus Vasculitis, Central Nervous System ; Peripheral Nervous System ; Serous Membrane ; Skin

Growth hormone (GH) deficiency is caused by congenital or acquired causes and occurs in childhood or adulthood. GH replacement therapy brings benefits to body composition, exercise capacity, skeletal health, cardiovascular outcomes, and quality of life. Before initiating GH replacement, GH deficiency should be confirmed through proper stimulation tests, and in cases with proven genetic causes or structural lesions, repeated GH stimulation testing is not necessary. The dosing regimen of GH replacement therapy should be individualized, with the goal of minimizing side effects and maximizing clinical improvements. The Korean Endocrine Society and the Korean Society of Pediatric Endocrinology have developed a position statement on the diagnosis and treatment of GH deficiency. This position statement is based on a systematic review of evidence and expert opinions.