Connective tissue disease

Category of diseases

Medical condition

Connective tissue disease

Other names| Connective tissue disorder, collagen vascular diseases
Different types of connective tissue
Specialty| Rheumatology

Connective tissue disease, also known as connective tissue disorder, or collagen vascular diseases, refers to any disorder that affects the connective tissue.[1] The body's structures are held together by connective tissues, consisting of two distinct proteins: 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.

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 that are autoimmune in nature.

Some connective tissue diseases have strong or weak genetic inheritance risks. Others may be due to environmental factors, or a combination of genetic and environmental influences.

## Classification

[edit]

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

[edit]

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]

* Marfan syndrome \- inherited as an autosomal dominant characteristic, due to mutations in the FBN1 gene that encodes fibrillin 1.[3]
* 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.[4]
* 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]
* Osteogenesis imperfecta \- hereditary condition marked by reduced bone mass, weakened bones, increased brittleness, and short stature.[6]
* Alkaptonuria \- inborn error of metabolism caused by mutations in the HGO gene and homogentisate 1,2-dioxygenase deficiency.[7][8]
* Pseudoxanthoma elasticum \- rare multisystem disease marked by gradual calcification and fragmentation of elastic fibres.[9]
* Mucopolysaccharidosis \- a class of hereditary illnesses distinguished by the excretion of mucopolysaccharide in the urine.[10]
* Fibrodysplasia ossificans progressiva \- rare and debilitating hereditary disorder characterized by progressive heterotopic ossification and congenital skeletal malformations.[11]
* Familial osteochondritis dissecans \- separation of the subchondral bone and cartilage from the surrounding tissue.[12]
* Stickler syndrome \- autosomal dominant disorder distinguished by skeletal, ocular, and orofacial abnormalities.[13]
* 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.[14]
* Congenital contractural arachnodactyly \- autosomal dominant disorder defined by arachnodactyly, multiple flexion contractures, abnormal pinnae, severe kyphoscoliosis, and muscular hypoplasia.[15]
* 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]
* Hypermobility spectrum disorder \- a variety of connective tissue diseases that are marked by ongoing pain and joint hypermobility.[18]

### Autoimmune connective tissue disorders

[edit]

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]

* Rheumatoid arthritis \- autoimmune disease with an unclear cause that manifests as symmetric, erosive synovitis and, occasionally, extraarticular involvement.[19]
* Systemic lupus erythematosus \- chronic, complex autoimmune inflammatory disorder that can affect every organ in the body.[20]
* 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]
* Psoriatic arthritis \- inflammatory musculoskeletal condition linked to psoriasis.[32]

## See also

[edit]

* Overlap syndrome
* Connective tissue

## References

[edit]

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## Further reading

[edit]

* 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. ISSN 0903-1936. PMID 26917611.1535-1558&rft.date=2016-02-25&rft.issn=0903-1936&rft_id=info:pmid/26917611&rft_id=info:doi/10.1183/13993003.00829-2015&rft.aulast=Spagnolo&rft.aufirst=Paolo&rft.au=Cordier,+Jean-François&rft.au=Cottin,+Vincent&rfr_id=info:sid/en.wikipedia.org:Connective+tissue+disease" class="Z3988">
* Baildam, Eileen (2014). "Rare connective tissue diseases in childhood". Paediatrics and Child Health. 24 (2): 51–57\. doi:10.1016/j.paed.2013.12.005.51-57&rft.date=2014&rft_id=info:doi/10.1016/j.paed.2013.12.005&rft.aulast=Baildam&rft.aufirst=Eileen&rfr_id=info:sid/en.wikipedia.org:Connective+tissue+disease" class="Z3988">

## External links

[edit]

* "Connective Tissue Disorders". National Library of Medicine. 2017-09-15.
* Dunkin, Mary Anne (2023-10-10). "Connective Tissue Disease: Types, Symptoms, Causes". WebMD.
* "Connective tissue diseases". DermNet®. 2023-10-26.

Classification|

* MeSH: D003240
* SNOMED CT: 105969002

|

External resources|

* MedlinePlus: 001223
* Radiopaedia: 86815
* Scholia: Q1779300

* v
* t
* e

Cutaneous keratosis, ulcer, atrophy, and necrobiosis

Epidermal thickening|

* keratoderma: Keratoderma climactericum
* Paraneoplastic keratoderma
* Acrokeratosis paraneoplastica of Bazex
* Aquagenic keratoderma
* Drug-induced keratoderma
* psoriasis
* Keratoderma blennorrhagicum

* 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 childhood

* other hypertrophy: Keloid
* Hypertrophic scar
* Cutis verticis gyrata

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
* Atrophia maculosa varioliformis cutis

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

* v
* t
* e

Systemic connective tissue disorders

General|

| Systemic lupus erythematosus|

* Drug-induced SLE
* Libman–Sacks endocarditis
* Lupus nephritis

|

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 syndrome

Other|

* IgG4-related disease
* Behçet's disease
* Polymyalgia rheumatica
* Eosinophilic fasciitis
* Eosinophilia–myalgia syndrome
* Ehlers–Danlos syndrome
* fibrillin
* Marfan syndrome
* Congenital contractural arachnodactyly

* v
* t
* e

Congenital malformations and deformations of integument / skin disease

Genodermatosis|

| Congenital ichthyosis/
erythrokeratodermia|

| AD|

* Ichthyosis vulgaris

|

AR|

* Congenital ichthyosiform erythroderma: Epidermolytic hyperkeratosis
* Lamellar ichthyosis
* Harlequin-type ichthyosis

* Netherton syndrome
* CHIME 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

and related|

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

* JEB
* JEB-H
* Mitis
* Generalized atrophic
* JEB-PA

* DEB
* DDEB
* RDEB

* related: Costello syndrome
* Kindler syndrome
* Laryngoonychocutaneous syndrome
* Skin fragility syndrome

Ectodermal dysplasia|

* Naegeli syndrome/Dermatopathia pigmentosa reticularis
* Hay–Wells syndrome
* Hypohidrotic ectodermal dysplasia
* Focal dermal hypoplasia
* Ellis–van Creveld syndrome
* Rapp–Hodgkin syndrome/Hay–Wells syndrome

Elastic/Connective|

* Ehlers–Danlos syndrome
* Cutis laxa (Gerodermia osteodysplastica)
* Popliteal pterygium syndrome
* Pseudoxanthoma elasticum
* Van der Woude syndrome

Hyperkeratosis/
keratinopathy|

| PPK|

* diffuse: Diffuse epidermolytic palmoplantar keratoderma
* Diffuse nonepidermolytic palmoplantar keratoderma
* Palmoplantar keratoderma of Sybert
* Meleda disease

* 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 congenita and sclerosing keratoderma syndrome
* Keratosis pilaris atrophicans faciei
* Keratosis pilaris

Other|

* cadherin
* EEM syndrome
* immune system
* Hereditary lymphedema
* Mastocytosis/Urticaria pigmentosa
* Hailey–Hailey

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

Authority control databases: National |

* United States
* 2
* 3
* Czech Republic
* 2
* Israel
* 2
* 3

|

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