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Connective tissue disease, also known as connective tissue disorder, or collagen vascular diseases, refers to any disorder that affect the
connective tissue.[1] The body's structures are held together by connective tissues. They consist of two distinct proteins called elastin and collagen. Tendons, ligaments, skin, cartilage, bone, and blood vessels are all made of collagen. Skin and ligaments contain elastin. The proteins and the body's surrounding tissues may suffer damage when these connective tissues become inflamed.[2]
The two main categories of connective tissue diseases are (1) a set of relatively rare genetic disorders affecting the primary structure of connective tissue, and (2) a variety of acquired diseases where the connective tissues are the site of multiple, more or less distinct immunological and inflammatory reactions.
Classification
Connective tissue diseases can be classified into two groups: (1) a group of relatively rare
genetic disorders affecting the primary structure of
connective tissue; and (2) a number of acquired conditions where the connective tissues are the site of multiple, more or less distinct immune and inflammatory reactions.[1]
Heritable connective tissue disorders
Hereditary connective tissue disorders are a diverse set of broad, single-gene disorders that impact one or more of the main components of
connective tissues, such as ground substance (
glycosaminoglycans),
collagen, or
elastin. Many result in anomalies of the skeleton and joints, which can substantially impair normal growth and development. In contrast to acquired connective tissue diseases, these conditions are uncommon.[1]
Ehlers–Danlos syndrome - diverse collection of disorders distinguished by the fragility of soft connective tissues and widespread symptoms affecting the skin, ligaments, joints,
blood vessels, and internal organs.[5]
Epidermolysis bullosa - hereditary, diverse grouping of rare genetic
dermatoses that are marked by blisters and mucocutaneous fragility.[16]
Loeys–Dietz syndrome - autosomal dominant condition linked to a wide range of systemic manifestations, such as skeletal, cutaneous, vascular, and craniofacial abnormalities.[17]
Acquired connective tissue diseases share certain clinical features, such as joint inflammation, inflammation of
serous membranes, and
vasculitis, as well as a high frequency of involvement of various internal organs that are particularly rich in
connective tissue.[1]
Scleroderma - diverse collection of autoimmune fibrosing conditions.[21]
Dermatomyositis and
polymyositis - autoimmune myopathies that are clinically characterized by extramuscular symptoms, muscle inflammation, proximal muscle weakening, and oftentimes the detection of autoantibodies.[22]
Vasculitis - disease that results in blood vessel inflammation.[23]
Sjögren syndrome - a systemic autoimmune illness that mostly affects the exocrine glands and causes mucosal surfaces, especially those in the mouth and eyes, to become extremely dry.[24]
Rheumatic fever - multisystem inflammatory illness that develops after group A streptococcal pharyngitis.[25]
Amyloidosis - uncommon condition caused by protein mutations or changes in the body that result in twisted clusters of malformed proteins accumulating on organs and tissues.[26]
Osteoarthritis - common articular cartilage degenerative disease linked to hypertrophic bone abnormalities.[27]
Thrombotic thrombocytopenic purpura - uncommon and potentially fatal thrombotic microangiopathy characterized by severe thrombocytopenia, organ ischemia connected to diffuse microvascular platelet rich-thrombi, and microangiopathic hemolytic anemia.[28]
Relapsing polychondritis - uncommon multisystem autoimmune disease with an unclear etiology that is marked by progressive cartilaginous tissue loss and recurring episodes of inflammation.[29]
Mixed connective tissue disease - systemic autoimmune disease that shares characteristics with two or more other systemic autoimmune diseases, such as rheumatoid arthritis, polymyositis/dermatomyositis, systemic lupus erythematosus, and systemic sclerosis.[30]
Undifferentiated connective tissue disease - unclassifiable systemic autoimmune disorders that do not meet any of the current classification requirements for connective tissue diseases yet have clinical and serological signs similar to connective tissue diseases.[31]
^Phornphutkul, Chanika; Introne, Wendy J.; Perry, Monique B.; Bernardini, Isa; Murphey, Mark D.; Fitzpatrick, Diana L.; Anderson, Paul D.; Huizing, Marjan; Anikster, Yair; Gerber, Lynn H.; Gahl, William A. (2002-12-26). "Natural History of Alkaptonuria". New England Journal of Medicine. 347 (26): 2111–2121.
doi:
10.1056/NEJMoa021736.
ISSN0028-4793.
^Kaplan, Frederick S.; Le Merrer, Martine; Glaser, David L.; Pignolo, Robert J.; Goldsby, Robert E.; Kitterman, Joseph A.; Groppe, Jay; Shore, Eileen M. (2008). "Fibrodysplasia ossificans progressiva". Best Practice & Research Clinical Rheumatology. 22 (1). Elsevier BV: 191–205.
doi:
10.1016/j.berh.2007.11.007.
ISSN1521-6942.
^Stattin, E.-L.; Tegner, Y.; Domellöf, M.; Dahl, N. (2008). "Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature". Osteoarthritis and Cartilage. 16 (8). Elsevier BV: 890–896.
doi:
10.1016/j.joca.2007.11.009.
ISSN1063-4584.
^Bennett, James; McMurray, Scott (November 1990).
"Stickler Syndrome". Journal of Pediatric Orthopaedics. 10 (6): 760–763. Retrieved 15 July 2024.
^Bardhan, Ajoy; Bruckner-Tuderman, Leena; Chapple, Iain L. C.; Fine, Jo-David; Harper, Natasha; Has, Cristina; Magin, Thomas M.; Marinkovich, M. Peter; Marshall, John F.; McGrath, John A.; Mellerio, Jemima E.; Polson, Rex; Heagerty, Adrian H. (2020-09-24). "Epidermolysis bullosa". Nature Reviews Disease Primers. 6 (1). Springer Science and Business Media LLC.
doi:
10.1038/s41572-020-0210-0.
ISSN2056-676X.
^Gouda, Pishoy; Kay, Robert; Habib, Marina; Aziz, Amir; Aziza, Eitan; Welsh, Robert (2022). "Clinical features and complications of Loeys-Dietz syndrome: A systematic review". International Journal of Cardiology. 362: 158–167.
doi:
10.1016/j.ijcard.2022.05.065.
^Atwell, Karina; Michael, William; Dubey, Jared; James, Sarah; Martonffy, Andrea; Anderson, Scott; Rudin, Nathan; Schrager, Sarina (2021). "Diagnosis and Management of Hypermobility Spectrum Disorders in Primary Care". The Journal of the American Board of Family Medicine. 34 (4): 838–848.
doi:
10.3122/jabfm.2021.04.200374.
ISSN1557-2625.
^American College of Rheumatology Subcommittee on Rheumatoid Arthritis Guidelines (2002). "Guidelines for the management of rheumatoid arthritis: 2002 Update". Arthritis & Rheumatism. 46 (2): 328–346.
doi:
10.1002/art.10148.
ISSN0004-3591.
^Fett, Nicole (2013). "Scleroderma: Nomenclature, etiology, pathogenesis, prognosis, and treatments: Facts and controversies". Clinics in Dermatology. 31 (4). Elsevier BV: 432–437.
doi:
10.1016/j.clindermatol.2013.01.010.
ISSN0738-081X.
^Mammen, Andrew L. (2010). "Dermatomyositis and polymyositis: Clinical presentation, autoantibodies, and pathogenesis". Annals of the New York Academy of Sciences. 1184 (1): 134–153.
doi:
10.1111/j.1749-6632.2009.05119.x.
ISSN0077-8923.
^GERGELY, P (2004). "Relapsing polychondritis". Best Practice & Research Clinical Rheumatology. 18 (5). Elsevier BV: 723–738.
doi:
10.1016/j.berh.2004.05.012.
ISSN1521-6942.
^Tani, Chiara; Carli, Linda; Vagnani, Sabrina; Talarico, Rosaria; Baldini, Chiara; Mosca, Marta; Bombardieri, Stefano (2014). "The diagnosis and classification of mixed connective tissue disease". Journal of Autoimmunity. 48–49. Elsevier BV: 46–49.
doi:
10.1016/j.jaut.2014.01.008.
ISSN0896-8411.
^Mosca, Marta; Tani, Chiara; Vagnani, Sabrina; Carli, Linda; Bombardieri, Stefano (2014). "The diagnosis and classification of undifferentiated connective tissue diseases". Journal of Autoimmunity. 48–49. Elsevier BV: 50–52.
doi:
10.1016/j.jaut.2014.01.019.
ISSN0896-8411.
Spagnolo, Paolo; Cordier, Jean-François; Cottin, Vincent (2016-02-25). "Connective tissue diseases, multimorbidity and the ageing lung". European Respiratory Journal. 47 (5). European Respiratory Society (ERS): 1535–1558.
doi:
10.1183/13993003.00829-2015.
ISSN0903-1936.
Baildam, Eileen (2014). "Rare connective tissue diseases in childhood". Paediatrics and Child Health. 24 (2): 51–57.
doi:
10.1016/j.paed.2013.12.005.
This is the user
sandbox of
CursedWithTheAbilityToDoTheMath. A user sandbox is a subpage of the user's
user page. It serves as a testing spot and page development space for the user and is not an encyclopedia article. Create or edit your own sandbox
here.
Finished writing a draft article? Are you ready to request review of it by an experienced editor for possible inclusion in Wikipedia? Submit your draft for review!
Connective tissue disease, also known as connective tissue disorder, or collagen vascular diseases, refers to any disorder that affect the
connective tissue.[1] The body's structures are held together by connective tissues. They consist of two distinct proteins called elastin and collagen. Tendons, ligaments, skin, cartilage, bone, and blood vessels are all made of collagen. Skin and ligaments contain elastin. The proteins and the body's surrounding tissues may suffer damage when these connective tissues become inflamed.[2]
The two main categories of connective tissue diseases are (1) a set of relatively rare genetic disorders affecting the primary structure of connective tissue, and (2) a variety of acquired diseases where the connective tissues are the site of multiple, more or less distinct immunological and inflammatory reactions.
Classification
Connective tissue diseases can be classified into two groups: (1) a group of relatively rare
genetic disorders affecting the primary structure of
connective tissue; and (2) a number of acquired conditions where the connective tissues are the site of multiple, more or less distinct immune and inflammatory reactions.[1]
Heritable connective tissue disorders
Hereditary connective tissue disorders are a diverse set of broad, single-gene disorders that impact one or more of the main components of
connective tissues, such as ground substance (
glycosaminoglycans),
collagen, or
elastin. Many result in anomalies of the skeleton and joints, which can substantially impair normal growth and development. In contrast to acquired connective tissue diseases, these conditions are uncommon.[1]
Ehlers–Danlos syndrome - diverse collection of disorders distinguished by the fragility of soft connective tissues and widespread symptoms affecting the skin, ligaments, joints,
blood vessels, and internal organs.[5]
Epidermolysis bullosa - hereditary, diverse grouping of rare genetic
dermatoses that are marked by blisters and mucocutaneous fragility.[16]
Loeys–Dietz syndrome - autosomal dominant condition linked to a wide range of systemic manifestations, such as skeletal, cutaneous, vascular, and craniofacial abnormalities.[17]
Acquired connective tissue diseases share certain clinical features, such as joint inflammation, inflammation of
serous membranes, and
vasculitis, as well as a high frequency of involvement of various internal organs that are particularly rich in
connective tissue.[1]
Scleroderma - diverse collection of autoimmune fibrosing conditions.[21]
Dermatomyositis and
polymyositis - autoimmune myopathies that are clinically characterized by extramuscular symptoms, muscle inflammation, proximal muscle weakening, and oftentimes the detection of autoantibodies.[22]
Vasculitis - disease that results in blood vessel inflammation.[23]
Sjögren syndrome - a systemic autoimmune illness that mostly affects the exocrine glands and causes mucosal surfaces, especially those in the mouth and eyes, to become extremely dry.[24]
Rheumatic fever - multisystem inflammatory illness that develops after group A streptococcal pharyngitis.[25]
Amyloidosis - uncommon condition caused by protein mutations or changes in the body that result in twisted clusters of malformed proteins accumulating on organs and tissues.[26]
Osteoarthritis - common articular cartilage degenerative disease linked to hypertrophic bone abnormalities.[27]
Thrombotic thrombocytopenic purpura - uncommon and potentially fatal thrombotic microangiopathy characterized by severe thrombocytopenia, organ ischemia connected to diffuse microvascular platelet rich-thrombi, and microangiopathic hemolytic anemia.[28]
Relapsing polychondritis - uncommon multisystem autoimmune disease with an unclear etiology that is marked by progressive cartilaginous tissue loss and recurring episodes of inflammation.[29]
Mixed connective tissue disease - systemic autoimmune disease that shares characteristics with two or more other systemic autoimmune diseases, such as rheumatoid arthritis, polymyositis/dermatomyositis, systemic lupus erythematosus, and systemic sclerosis.[30]
Undifferentiated connective tissue disease - unclassifiable systemic autoimmune disorders that do not meet any of the current classification requirements for connective tissue diseases yet have clinical and serological signs similar to connective tissue diseases.[31]
^Phornphutkul, Chanika; Introne, Wendy J.; Perry, Monique B.; Bernardini, Isa; Murphey, Mark D.; Fitzpatrick, Diana L.; Anderson, Paul D.; Huizing, Marjan; Anikster, Yair; Gerber, Lynn H.; Gahl, William A. (2002-12-26). "Natural History of Alkaptonuria". New England Journal of Medicine. 347 (26): 2111–2121.
doi:
10.1056/NEJMoa021736.
ISSN0028-4793.
^Kaplan, Frederick S.; Le Merrer, Martine; Glaser, David L.; Pignolo, Robert J.; Goldsby, Robert E.; Kitterman, Joseph A.; Groppe, Jay; Shore, Eileen M. (2008). "Fibrodysplasia ossificans progressiva". Best Practice & Research Clinical Rheumatology. 22 (1). Elsevier BV: 191–205.
doi:
10.1016/j.berh.2007.11.007.
ISSN1521-6942.
^Stattin, E.-L.; Tegner, Y.; Domellöf, M.; Dahl, N. (2008). "Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature". Osteoarthritis and Cartilage. 16 (8). Elsevier BV: 890–896.
doi:
10.1016/j.joca.2007.11.009.
ISSN1063-4584.
^Bennett, James; McMurray, Scott (November 1990).
"Stickler Syndrome". Journal of Pediatric Orthopaedics. 10 (6): 760–763. Retrieved 15 July 2024.
^Bardhan, Ajoy; Bruckner-Tuderman, Leena; Chapple, Iain L. C.; Fine, Jo-David; Harper, Natasha; Has, Cristina; Magin, Thomas M.; Marinkovich, M. Peter; Marshall, John F.; McGrath, John A.; Mellerio, Jemima E.; Polson, Rex; Heagerty, Adrian H. (2020-09-24). "Epidermolysis bullosa". Nature Reviews Disease Primers. 6 (1). Springer Science and Business Media LLC.
doi:
10.1038/s41572-020-0210-0.
ISSN2056-676X.
^Gouda, Pishoy; Kay, Robert; Habib, Marina; Aziz, Amir; Aziza, Eitan; Welsh, Robert (2022). "Clinical features and complications of Loeys-Dietz syndrome: A systematic review". International Journal of Cardiology. 362: 158–167.
doi:
10.1016/j.ijcard.2022.05.065.
^Atwell, Karina; Michael, William; Dubey, Jared; James, Sarah; Martonffy, Andrea; Anderson, Scott; Rudin, Nathan; Schrager, Sarina (2021). "Diagnosis and Management of Hypermobility Spectrum Disorders in Primary Care". The Journal of the American Board of Family Medicine. 34 (4): 838–848.
doi:
10.3122/jabfm.2021.04.200374.
ISSN1557-2625.
^American College of Rheumatology Subcommittee on Rheumatoid Arthritis Guidelines (2002). "Guidelines for the management of rheumatoid arthritis: 2002 Update". Arthritis & Rheumatism. 46 (2): 328–346.
doi:
10.1002/art.10148.
ISSN0004-3591.
^Fett, Nicole (2013). "Scleroderma: Nomenclature, etiology, pathogenesis, prognosis, and treatments: Facts and controversies". Clinics in Dermatology. 31 (4). Elsevier BV: 432–437.
doi:
10.1016/j.clindermatol.2013.01.010.
ISSN0738-081X.
^Mammen, Andrew L. (2010). "Dermatomyositis and polymyositis: Clinical presentation, autoantibodies, and pathogenesis". Annals of the New York Academy of Sciences. 1184 (1): 134–153.
doi:
10.1111/j.1749-6632.2009.05119.x.
ISSN0077-8923.
^GERGELY, P (2004). "Relapsing polychondritis". Best Practice & Research Clinical Rheumatology. 18 (5). Elsevier BV: 723–738.
doi:
10.1016/j.berh.2004.05.012.
ISSN1521-6942.
^Tani, Chiara; Carli, Linda; Vagnani, Sabrina; Talarico, Rosaria; Baldini, Chiara; Mosca, Marta; Bombardieri, Stefano (2014). "The diagnosis and classification of mixed connective tissue disease". Journal of Autoimmunity. 48–49. Elsevier BV: 46–49.
doi:
10.1016/j.jaut.2014.01.008.
ISSN0896-8411.
^Mosca, Marta; Tani, Chiara; Vagnani, Sabrina; Carli, Linda; Bombardieri, Stefano (2014). "The diagnosis and classification of undifferentiated connective tissue diseases". Journal of Autoimmunity. 48–49. Elsevier BV: 50–52.
doi:
10.1016/j.jaut.2014.01.019.
ISSN0896-8411.
Spagnolo, Paolo; Cordier, Jean-François; Cottin, Vincent (2016-02-25). "Connective tissue diseases, multimorbidity and the ageing lung". European Respiratory Journal. 47 (5). European Respiratory Society (ERS): 1535–1558.
doi:
10.1183/13993003.00829-2015.
ISSN0903-1936.
Baildam, Eileen (2014). "Rare connective tissue diseases in childhood". Paediatrics and Child Health. 24 (2): 51–57.
doi:
10.1016/j.paed.2013.12.005.