Connective tissue disease

Connective tissue disease
Classification and external resources
MedlinePlus	001223
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).^[1]

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.^[1] 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.
Peyronie's disease- involving the growth of abnormal collagen (Type I and III) in the penis.
Ehlers-Danlos syndrome – defect in the synthesis of collagen (Type I or III) 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 normal collagen (primarily type I) to produce healthy, strong bones.
Stickler syndrome – affects collagen (primarily type II and XI), and may result in a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems.
Alport syndrome - defects in collagen (type IV), found in the renal basement membrane, inner ear and eyes, leading to glomerulonephritis, hearing loss, and eye disease, respectively.
Congenital contractural arachnodactyly - Also known as Beal's syndrome. It is akin to Marfan syndrome but with Contractures of hip, knee, elbows and ankle joint and crumpled ear.
Loeys–Dietz syndrome- The disorder is marked by aneurysms in the aorta, often in children. Symptoms appear to be like Marfan Syndrome and EDS. This is caused by a mutation in the gene TGFBR on either chromosome 3 or 9 depending on the type.

Autoimmune connective tissue disorders

Main article: Autoimmunity

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); anti-synthetase syndrome; 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.
Psoriatic arthritis is also a collagen vascular disease.^[2]

Other connective tissue disorders

Scurvy – caused by a dietary deficiency in vitamin C, leading to abnormal collagen.

References

1 2 William C. Shiel Jr.,Connective Tissue Disease
↑ Medline Plus, Collagen vascular disease.

External links

Cutaneous keratosis, ulcer, atrophy, and necrobiosis (L82–L94, 700–701.5)

Epidermal thickening

Necrobiosis/granuloma

Necrobiotic/palisading	Granuloma 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 reaction

Foreign body granuloma	Beryllium granuloma Mercury granuloma Silica granuloma Silicone granuloma Zirconium granuloma Soot tattoo Tattoo Carbon stain

Other/ungrouped	eosinophilic dermatosis Granuloma faciale

Dermis/
localized CTD

Cutaneous lupus erythematosus	chronic: Discoid Panniculitis subacute: Neonatal ungrouped: Chilblain Lupus erythematosus–lichen planus overlap syndrome Tumid Verrucous Rowell's syndrome

Scleroderma/ Morphea	Localized scleroderma Localized morphea Morphea–lichen sclerosus et atrophicus overlap Generalized morphea Atrophoderma of Pasini and Pierini Pansclerotic morphea Morphea profunda Linear scleroderma

Atrophic/ atrophoderma	Lichen sclerosus Anetoderma Schweninger–Buzzi anetoderma Jadassohn–Pellizzari anetoderma Atrophoderma of Pasini and Pierini Acrodermatitis chronica atrophicans Semicircular lipoatrophy Follicular atrophoderma Linear atrophoderma of Moulin

Perforating	Kyrle disease Reactive perforating collagenosis Elastosis perforans serpiginosa Perforating folliculitis Acquired perforating dermatosis

Skin ulcer	Pyoderma gangrenosum

Other	Calcinosis cutis Sclerodactyly Poikiloderma vasculare atrophicans Ainhum/Pseudo-ainhum

Systemic connective tissue disorders (M32–M36, 710)

General

Systemic lupus erythematosus	Drug-induced SLE Libman-Sacks endocarditis

Inflammatory myopathy	Myositis Dermatopolymyositis Dermatomyositis/Juvenile dermatomyositis Polymyositis* Inclusion body myositis

Scleroderma	Systemic scleroderma Progressive systemic sclerosis CREST syndrome

Overlap syndrome / Mixed connective tissue disease

Other hypersensitivity/autoimmune

Sjögren's syndrome

Other

Congenital malformations and deformations of integument / skin disease (Q80–Q82, 757.0–757.3)

Genodermatosis

Congenital ichthyosis/
erythrokeratodermia

AD	Ichthyosis vulgaris

AR	Congenital ichthyosiform erythroderma: Epidermolytic hyperkeratosis Lamellar ichthyosis Harlequin type ichthyosis Netherton syndrome Zunich–Kaye syndrome Sjögren–Larsson syndrome

XR	X-linked ichthyosis

Ungrouped	Ichthyosis bullosa of Siemens Ichthyosis follicularis Ichthyosis prematurity syndrome Ichthyosis–sclerosing cholangitis syndrome Nonbullous congenital ichthyosiform erythroderma Ichthyosis linearis circumflexa Ichthyosis hystrix

EB
and related

EBS
- EBS-K
- EBS-WC
- EBS-DM
- EBS-OG
- EBS-MD
- EBS-MP

DEB
- DDEB
- RDEB

Ectodermal dysplasia

Elastic/Connective

Hyperkeratosis/
keratinopathy

PPK	diffuse: 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 disease focal: 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 keratoderma ungrouped: Palmoplantar keratoderma and spastic paraplegia desmoplakin Carvajal syndrome connexin Erythrokeratodermia variabilis HID/KID

Other	Meleda disease Keratosis pilaris ATP2A2 Darier's disease Dyskeratosis congenita Lelis syndrome Dyskeratosis congenita Keratolytic winter erythema Keratosis follicularis spinulosa decalvans Keratosis linearis with ichthyosis congenital and sclerosing keratoderma syndrome Keratosis pilaris atrophicans faciei Keratosis pilaris

Other

see also Template:Congenital malformations and deformations of skin appendages, Template:Phakomatoses, Template:Pigmentation disorders, Template:DNA replication and repair-deficiency disorder

Developmental
anomalies

Midline	Dermoid cyst Encephalocele Nasal glioma PHACE association Sinus pericranii

Nevus	Capillary hemangioma Port-wine stain Nevus flammeus nuchae

Other/ungrouped	Aplasia cutis congenita Amniotic band syndrome Branchial cyst Cavernous venous malformation Accessory nail of the fifth toe 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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