- Connective tissue disease
Connective tissue disease Classification and external resources MeSH D003240
A connective tissue disease is any disease that has the connective tissues of the body as a target of pathology. Connective tissue is any type of biological tissue with an extensive extracellular matrix that supports, binds together, and protects organs. These tissues form a framework, or matrix, for the body, and are composed of two major structural protein molecules: collagen and elastin. There are many different types of collagen protein in each of the body's tissues. Elastin has the capability of stretching and returning to its original length—like a spring or rubber band. Elastin is the major component of ligaments (tissues that attach bone to bone) and skin. In patients with connective tissue disease, it is common for collagen and elastin to become injured by inflammation. Many connective tissue diseases feature abnormal immune system activity with inflammation in tissues as a result of an immune system that is directed against one's own body tissues (autoimmunity).
Diseases in which inflammation or weakness of collagen tends to occur are also referred to as collagen diseases. Collagen vascular diseases can be (but are not necessarily) associated with collagen and blood vessel abnormalities and that are autoimmune in nature. See also vasculitis.
Connective tissue diseases can have strong or weak inheritance risks, and can also be caused by environmental factors.
Heritable connective tissue disorders
- Marfan syndrome – a genetic disease causing abnormal fibrillin.
- Ehlers-Danlos syndrome – causes progressive deterioration of collagens, with different EDS types affecting different sites in the body, such as joints, heart valves, organ walls, arterial walls
- Osteogenesis imperfecta (brittle bone disease) – caused by insufficient production of good quality collagen to produce healthy, strong bones.
- Stickler syndrome – affects collagen, and may result in a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems.
Autoimmune connective tissue disorders
These are also referred to as systemic autoimmune diseases. The autoimmune CTDs may have both genetic and environmental causes. Genetic factors may create a predisposition towards developing these autoimmune diseases. They are characterized as a group by the presence of spontaneous overactivity of the immune system that results in the production of extra antibodies into the circulation. The classic collagen vascular diseases have a "classic" presentation with typical findings that doctors can recognize during an examination. Each also has "classic" blood test abnormalities and abnormal antibody patterns. However, each of these diseases can evolve slowly or rapidly from very subtle abnormalities before demonstrating the classic features that help in the diagnosis. The classic collagen vascular diseases include:
- Systemic lupus erythematosus (SLE) – An inflammation of the connective tissues, SLE can afflict every organ system. It is up to nine times more common in women than men and strikes black women three times as often as white women. The condition is aggravated by sunlight.
- Rheumatoid arthritis – Rheumatoid arthritis is a systemic disorder in which immune cells attack and inflame the membrane around joints. It also can affect the heart, lungs, and eyes. Of the estimated 2.1 million Americans with rheumatoid arthritis, approximately 1.5 million (71 percent) are women.
- Scleroderma – an activation of immune cells that produces scar tissue in the skin, internal organs, and small blood vessels. It affects women three times more often than men overall, but increases to a rate 15 times greater for women during childbearing years, and appears to be more common among black women.
- Sjögren's syndrome – also called Sjögren's disease, is a chronic, slowly progressing inability to secrete saliva and tears. It can occur alone or with rheumatoid arthritis, scleroderma, or systemic lupus erythematosus. Nine out of 10 cases occur in women, most often at or around mid-life.
- Mixed connective tissue disease – Mixed connective-tissue disease (MCTD) is a disorder in which features of various connective-tissue diseases (CTDs) such as systemic lupus erythematosus (SLE); systemic sclerosis (SSc); dermatomyositis (DM); polymyositis (PM); and, occasionally, Sjögren syndrome can coexist and overlap. The course of the disease is chronic and usually milder than other CTDs. In most cases, MCTD is considered an intermediate stage of a disease that eventually becomes either SLE or Scleroderma.
Other connective tissue disorders
- Merck Manual: Musculoskeletal and connective tissue disorders
- Merck Manual: Inherited connective tissue disorders
- Arthritis Foundation
- The Myositis Foundation
Cutaneous keratosis, ulcer, atrophy, and necrobiosis (L82–L94, 700–701.5) Epidermal thickening
keratoderma: Keratoderma climactericum • Paraneoplastic keratoderma (Acrokeratosis paraneoplastica of Bazex ) • Aquagenic keratoderma · Drug-induced keratoderma · Paraneoplastic keratoderma • psoriasis (Keratoderma blennorrhagica)
keratosis: Seborrheic keratosis (Clonal seborrheic keratosis · Common seborrheic keratosis · Irritated seborrheic keratosis · Seborrheic keratosis with squamous atypia · Reticulated seborrheic keratosis · Dermatosis papulosa nigra) • Keratosis punctata of the palmar creases
other hyperkeratosis: Acanthosis nigricans (Confluent and reticulated papillomatosis) · Callus • Ichthyosis acquisita · Arsenical keratosis · Chronic scar keratosis · Hyperkeratosis lenticularis perstans · Hydrocarbon keratosis · Hyperkeratosis of the nipple and areola · Inverted follicular keratosis · Lichenoid keratosis · Multiple minute digitate hyperkeratosis · PUVA keratosis · Reactional keratosis · Stucco keratosis · Thermal keratosis · Viral keratosis · Warty dyskeratoma · Waxy keratosis of childhoodother hypertrophy: Keloid · Hypertrophic scar • Cutis verticis gyrata ·
Necrobiosis/granulomaGranuloma annulare (Perforating, Generalized, Subcutaneous, Granuloma annulare in HIV disease, Localized granuloma annulare, Patch-type granuloma annulare) · Necrobiosis lipoidica · Annular elastolytic giant cell granuloma · Granuloma multiforme · Necrobiotic xanthogranuloma · Palisaded neutrophilic and granulomatous dermatitis · Rheumatoid nodulosis · Interstitial granulomatous dermatitis/Interstitial granulomatous drug reactionForeign body granulomaOther/ungroupedeosinophilic dermatosis (Granuloma faciale) Dermis/
localized CTDCutaneous lupus
atrophodermaKyrle disease · Reactive perforating collagenosis · Elastosis perforans serpiginosa · Perforating folliculitis · Acquired perforating dermatosisOther
Systemic CT disorders (M32–M36, 710) GeneralInflammatory myopathy/Myositis: Dermatopolymyositis (Dermatomyositis/Juvenile dermatomyositis, Polymyositis) · Inclusion body myositis Other hypersensitivity/autoimmune Other Congenital malformations and deformations of integument / skin disease (Q80–Q82, 757.0–757.3) GenodermatosisCongenital ichthyosis/
erythrokeratodermiaADARUngroupedIchthyosis bullosa of Siemens · Ichthyosis follicularis · Ichthyosis prematurity syndrome · Ichthyosis–sclerosing cholangitis syndrome · Nonbullous congenital ichthyosiform erythroderma · Ichthyosis linearis circumflexa · Ichthyosis hystrixEB
keratinopathydiffuse: Diffuse epidermolytic palmoplantar keratoderma • Diffuse nonepidermolytic palmoplantar keratoderma • Palmoplantar keratoderma of Sybert • Mal de Meleda •syndromic (connexin (Bart–Pumphrey syndrome • Clouston's hidrotic ectodermal dysplasia • Vohwinkel syndrome) • Corneodermatoosseous syndrome • plakoglobin (Naxos syndrome) • Scleroatrophic syndrome of Huriez • Olmsted syndrome • Cathepsin C (Papillon–Lefèvre syndrome • Haim–Munk syndrome) • Camisa diseasefocal: Focal palmoplantar keratoderma with oral mucosal hyperkeratosis • Focal palmoplantar and gingival keratosis • Howel–Evans syndrome • Pachyonychia congenita (Pachyonychia congenita type I • Pachyonychia congenita type II) • Striate palmoplantar keratoderma • Tyrosinemia type II)punctate: Acrokeratoelastoidosis of Costa • Focal acral hyperkeratosis • Keratosis punctata palmaris et plantaris • Keratosis punctata of the palmar creases • Schöpf–Schulz–Passarge syndrome • Porokeratosis plantaris discreta • Spiny keratodermaOtherMeleda disease · Keratosis pilaris · ATP2A2 (Darier's disease) · Dyskeratosis congenita · Lelis syndromeOtherTemplate:Phakomatoses, Template:Pigmentation disorders, Template:DNA replication and repair-deficiency disorder
anomaliesMidlineOther/ungrouped· Bronchogenic cyst · Congenital cartilaginous rest of the neck · Congenital hypertrophy of the lateral fold of the hallux · Congenital lip pit · Congenital malformations of the dermatoglyphs · Congenital preauricular fistula · Congenital smooth muscle hamartoma · Cystic lymphatic malformation · Median raphe cyst · Melanotic neuroectodermal tumor of infancy · Mongolian spot · Nasolacrimal duct cyst · Omphalomesenteric duct cyst · Poland anomaly · Rapidly involuting congenital hemangioma · Rosenthal–Kloepfer syndrome · Skin dimple · Superficial lymphatic malformation · Thyroglossal duct cyst · Verrucous vascular malformation · Birthmark
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