๐ ็ธฝ็ฎ้ ๏ฝ ๐ ่ฑๆๅๆ๏ผๆฌ็ฏ๏ผ ๏ฝ ๐ ๅฎๆด็ฟป่ญฏ ๏ฝ โญ ็ฒพ่ฏ็ญ่จ
Introduction
Nigel P. Burrows, Franziska Ringpfeil and Jouni Uittoโ Heritable Disorders of Connective Tissue
Key features
ยHeritable connective tissue disorders with skin involvement comprise a phenotypically diverse group of conditions
ยRecognition of characteristic skin findings is often critical to estab- lishing the diagnosis and identifying associated internal involvement, which may include life-threatening cardiovascular disease as in vascular EhlersโDanlos syndrome and pseudoxanthoma elasticum
ยHeritable connective tissue disorders can result from mutations in genes encoding structural extracellular matrix (ECM) proteins (e.g. collagens, components of elastic fibers), enzymes that modify these structural proteins, and other proteins with effects on the ECM (e.g. via transport or regulatory functions)