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( Thilo Gambichler ),( Rebecca Matip ) 대한피부과학회 2012 Annals of Dermatology Vol.24 No.2
Essential thrombocythemia (ET) is a clonal stem cell disease characterized by isolated thrombocytosis and thrombohemorrhagic complications. We describe an unusual case of ET primarly presenting with skin symptoms including erythromelalgia and livedo reticularis (racemosa-type). Persistent thrombocytosis, bone marrow findings, JAK2 gene mutation, and markedly decreased ristocetin-cofactor activity were consistent with the diagnosis of ET and acquired von Willebrand disease. Elevated antiphospholipid antibodies were also found. The present case highlights the complex nature and diagnostic challenge of myeloproliferative disorders such as ET, which can involve multiple organ systems and often shows a variety of microvascular complications, coagulation anomalies, and autoimmune phenomena. (Ann Dermatol 24(2) 214∼217, 2012)
Acne Inversa: Evaluating Antimicrobial Peptides and Proteins
( Falk G Bechara ),( Michael Sand ),( Marina Skrygan ),( Alexander Kreuter ),( Peter Altmeyer ),( Thilo Gambichler ) 대한피부과학회 2012 Annals of Dermatology Vol.24 No.4
Background: Acne inversa is a chronic, suppurative relapsing inflammatory skin disease that primarily affects the axillae, perineum and inframammary regions. Evidence suggests that the innate immune system is involved in the pathogenesis of acne inversa. Objective: To investigate the role of the innate immune system in acne inversa. Methods: Skin biopsies were obtained from inflammatory skin lesions (n=17) and from non-lesional skin (intraindividual control, n=17) of patients with acne inversa. Additional skin lesions were taken from patients with chronic venous leg ulcers (interindividual control, n=5). Quantitative real-time reverse transcription-polymerase chain reaction was used to determine the mRNA levels of antimicrobial peptides and proteins (AMPs), including human β-defensin (hBD)-1, hBD-2 and hBD-3, LL-37 (cathelicidin) and Ribonuclease 7 (RNase 7). mRNA levels were also determined for inflammatory and anti- inflammatory cytokines, including tumor necrosis factor- alpha (TNF-α), matrix metalloproteinase- 1 (MMP1), interleukin (IL)-1β, IL-6, IL-8 and IL-10. Results: The mRNA levels of hBD-2, LL-37, IL-1β, IL-6, IL-8, IL-10 and MMP1 were significantly higher in acne inversa lesions compared to non-lesional skin (p<0.05). A significant positive correlation expression was observed between hBD-2 mRNA expression and LL-37 (ρ=0.53, p=0.03), and between hBD-2 and RNAse 7 (ρ=0.68, p=0.006). When compared to the chronic venous leg ulcer lesions, acne inversa lesions showed a significantly higher expression of RNase 7 mRNA, while IL-1 β, IL-6, IL-8, TNF- α and MMP1 mRNA expression was significantly higher in the chronic venous leg ulcer lesions (p<0.05). Conclusion: The AMP, cytokine milieu and tissue proteases in acne inversa lesions differ significantly from non-lesional skin and chronic venous leg ulcers. The positively correlating up-regulation of AMPs in acne inversa indicates an important role of the innate immune system in the pathogenesis of this disorder. (Ann Dermatol 24(4) 393∼397, 2012)