Connective tissue disease is an umbrella term for many different types of diseases. Connective tissue diseases can be classified into two groups: • a group of relatively rare
genetic disorders affecting the primary structure of
connective tissue; • a number of
acquired conditions where the connective tissues are the site of multiple, more or less distinct immune and inflammatory reactions.
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. •
Homocystinuria - condition of
methionine metabolism brought on by a
cystathionine β-synthase deficit that causes a build-up of
homocysteine and its metabolites in the urine and blood. •
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. •
Osteogenesis imperfecta - hereditary condition marked by reduced
bone mass, weakened bones, increased brittleness, and
short stature. •
Alkaptonuria -
inborn error of metabolism caused by mutations in the HGO gene and
homogentisate 1,2-dioxygenase deficiency. •
Pseudoxanthoma elasticum - rare multisystem disease marked by gradual calcification and fragmentation of
elastic fibres. •
Mucopolysaccharidosis - a class of hereditary illnesses distinguished by the excretion of
mucopolysaccharide in the urine. •
Fibrodysplasia ossificans progressiva - rare and debilitating hereditary disorder characterized by progressive
heterotopic ossification and congenital skeletal malformations. • Familial
osteochondritis dissecans - separation of the
subchondral bone and
cartilage from the surrounding tissue. •
Stickler syndrome - autosomal dominant disorder distinguished by skeletal, ocular, and orofacial abnormalities. •
Alport syndrome - hereditary
kidney disease is distinguished by structural abnormalities and malfunction in the
glomerular basement membrane, as well as
basement membranes in other organs such as the eye and ear. •
Congenital contractural arachnodactyly - autosomal dominant disorder defined by
arachnodactyly, multiple flexion contractures, abnormal
pinnae, severe
kyphoscoliosis, and muscular hypoplasia. •
Epidermolysis bullosa - hereditary, diverse grouping of rare genetic
dermatoses that are marked by blisters and mucocutaneous fragility. •
Loeys–Dietz syndrome - autosomal dominant condition linked to a wide range of systemic manifestations, such as skeletal, cutaneous, vascular, and craniofacial abnormalities. •
Hypermobility spectrum disorder - a variety of connective tissue diseases that are marked by ongoing pain and
joint hypermobility. •
Arterial tortuosity syndrome - a rare connective tissue disorder distinguished by abnormal twisting of the large arteries. Other features include
marfanoid habitus,
keratoconus, hypotonia, and bowel dilatations and perforations.
Autoimmune connective tissue disorders 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. •
Systemic lupus erythematosus - chronic, complex
autoimmune inflammatory disorder that can affect every organ in the body. •
Scleroderma and
systemic scleroderma - diverse collection of autoimmune fibrosing conditions. •
Dermatomyositis and
polymyositis - autoimmune
myopathies that are clinically characterized by extramuscular symptoms, muscle
inflammation, proximal
muscle weakening, and oftentimes the detection of
autoantibodies. •
Antisynthetase syndrome - multisystematic autoimmune disease associated with inflammatory myositis and
interstitial lung disease. •
Vasculitis - disease that results in
blood vessel inflammation. •
Sjögren's disease - 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. •
Rheumatic fever - multisystem inflammatory illness that develops after group A
streptococcal pharyngitis. •
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. •
Osteoarthritis - common articular cartilage degenerative disease linked to hypertrophic bone abnormalities. •
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. •
Relapsing polychondritis - uncommon multisystem autoimmune disease with an unclear etiology that is marked by progressive cartilaginous tissue loss and recurring episodes of inflammation. •
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. It is an example of
overlap syndrome. •
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. •
Psoriatic arthritis - inflammatory musculoskeletal condition linked to
psoriasis. •
Cryoglobulinemia - condition sometimes associated with systemic lupus erythematosus or rheumatoid arthritis in which there are abnormal proteins in the blood. == References ==