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| (myofibroblast disorder, proliferation) Involves myofibroblasts of palmar fascia. Myofibroblasts pull fascia together. A disorder with the myofibroblasts of the palmar fascia, and is a fixed flexion contracture of the hand where the fingers bend towards the palm and cannot be fully extended. |
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| (Type I Collagen Defect) A genetic bone disorder due to defective connective tissue, usually because of a deficiency of Type-I collagen. This deficiency arises from an amino acid substitution of glycine to bulkier amino acids in the collagen triple helix structure. The larger amino acid side-chains create steric hindrance that creates a "bulge" in the collagen complex. Repeated fractures after minor trauma, brittle bones, abnormal teeth, thin skin, weak tendons, blue sclera (Sclera thinner in this disease thus Choroid plexus of veins shows causing blue apppearance), progressive hearing loss. AKA brittle bone disease. |
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| (fibrillin) Defect in FBN1 gene that encodes for fibrillin-1. A genetic disorder of the connective tissue carried by a gene called FBN1, which encodes a connective protein called fibrillin-1. People with **** are typically tall, with long limbs and long thin fingers (Arachnodactyly) due to either no fibrillin or defective fibrillin Also the eyes are affected specifically the suspensory ligament that controls the shape of the lens. The lens is displaced. |
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| (Type III Collagen defect) *** syndrome is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen. Specifically, Type IV, is an autosomal dominant defect in the type-III collagen synthesis. Type IV is considered one of the more serious forms of **** syndrome because blood vessels and organs are more prone to tearing. Patients with EDS Type IV often express a characteristic facial appearance (large eyes, small chin, thin nose and lips, lobeless ears), and typically have thin, pale, translucent skin. Hypermobility of joints of digits, pale thin skin, severe bruisability, early morbidity and mortality resulting from rupture of vessels and internal organs. Skin hyperextensibility is also evident. |
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| (Collagen IV defects, causing basement membrane disorder, hematuria is most common and earliest manifestation) *** syndrome is caused by mutations in COL4A3, COL4A4, and COL4A5, collagen biosynthesis genes. Mutations prevent the proper production or assembly of the type IV collagen network, which is an important structural component of basement membranes in the kidney, inner ear, and eye. When mutations prevent the formation of type IV collagen fibers, the basement membranes of the kidneys are not able to filter waste products normally, allowing blood and protein into the urine. The abnormalities of type IV collagen in kidneys cause gradual scarring of the kidneys, eventually leading to kidney failure. Hematuria resulting from structural changes in the glomerular basement membrane of the kidney, progressive hearing loss and ocular lesions. |
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| (The most common benign tumor in men, derived from subcutaneous adipose tissue) most common benign adipose tissue tumor; well-defined, soft, painless, masses of mature adipocytes/lipocytes (also contains lipid-depleted lipocytes but less frequently) usually found in the subcutaneous tissue of the back, thorax, and proximal parts of the upper and lower limbs. See also Box 9.2 |
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| (Exaggerated growth of scar tissue) the result of overgrowth of dense CT that usually develops after healing of a skin injury; they can be described as variations of typical wound healing; more collagen is produced than degraded and the scar grows in all directions. |
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| (a plasma cell dyscrasia (abnormal condition of blood), sheets or aggregates of malignant plasma cells are present in the bone marrow, a monoclonal spike with electrophoresis (M component), degrades cortical bone) Sheets of malignant plasma cells are present in a bone marrow aspirate, plasma cells account for over 10% of cells in the aspirate; IgM spike occurs in 80-90% of cases |
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(a life threatening hypersensitivity reaction in that bronchoconstriction occurs (bronchiole sm. m. contracts). Another event is the formation of hives due to skin edema. -- As a result of mast cell degranulation) a life threatening allergic (type 1 immediate hypersensitivity) reaction. Occurs after ingestion, skin contact, injection of an allergen or inhalation. A process/event occurs leading to the degranulation of mast cells; skin appears red and edematous. Wheals of urtricaria or hives sometimes result.
Mast cells actually promote this type of allergic reaction or immediate hypersensitivity rxns. |
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