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Symptoms that suggest a difference in connective tissue structure Unusually soft or velvety skin; Mild skin hyperextensibility; Unexplained striae distensae or rubae at the back, groins, thighs, breasts, and/or abdomen in adolescents, men, or pre-pubertal women without a history of significant gain or loss of body fat or weight
Connective tissue disease, also known as connective tissue disorder, or collagen vascular diseases, refers to any disorder that affects the connective tissue. [1] The body's structures are held together by connective tissues, consisting of two distinct proteins : elastin and collagen .
Bethlem myopathy 1 is a rare disease, affecting about 1 in 200,000 people. [8] Bethlem myopathy 2 is an ultra-rare disease, affecting less than 1 in 1,000,000 people. [9] The condition was described by J. Bethlem and G. K. van Wijngaarden in 1976. [10]
The type II and XI collagenopathies are a group of disorders that affect connective tissue, the tissue that supports the body's joints and organs. These disorders are caused by defects in type II or type XI collagen. Collagens are complex molecules that provide structure, strength, and elasticity to connective tissue.
Dermatomyositis is a form of systemic connective tissue disorder, a class of diseases that often involves autoimmune dysfunction. [12] [16] It has also been classified as an idiopathic inflammatory myopathy, along with polymyositis, necrotizing autoimmune myositis, cancer-associated myositis, and sporadic inclusion body myositis. [17]
Usually, pseudoxanthoma elasticum affects the skin first, often in childhood or early adolescence. [7] Small, yellowish papular lesions form and cutaneous laxity mainly affect the neck, axillae (armpits), groin, and flexural creases (the inside parts of the elbows and knees). [3] [8] Skin may become lax and redundant.
Fibrodysplasia ossificans progressiva (/ ˌ f aɪ b r oʊ d ɪ ˈ s p l eɪ ʒ (i) ə ɒ ˈ s ɪ f ɪ k æ n z p r ə ˈ ɡ r ɛ s ɪ v ə /; [1] abbr. FOP), also called Münchmeyer disease or formerly myositis ossificans progressiva, is an extremely rare connective tissue disease in which fibrous connective tissue such as muscle, tendons, and ligaments turn into bone tissue (ossification).
Dermatomyositis: an inflammatory disease of skin and muscle marked especially by muscular weakness and skin rash. Scleroderma is a connective tissue disease that causes fibrosis and vascular abnormalities, but that also has an autoimmune component, and can include connective tissues complications.