Connective Tissue Disorders (Print Version)

Connective tissue is the material inside your body that supports many of its parts. It is the “cellular glue” that gives your tissues their shape and helps keep them strong. It also helps some of your tissues do their work. Cartilage and fat are examples of connective tissue.

There are over 200 disorders that impact connective tissue. Some, like cellulitis, are the result of an infection. Injuries can cause connective tissue disorders, such as scars. Others, such as Ehlers-Danlos syndrome, Marfan syndrome, and osteogenesis imperfecta, are genetic. Still others, like scleroderma, have no known cause. Each disorder has its own symptoms and needs different treatment.

Start Here

What Are Heritable Disorders of Connective Tissue?(National Institute of Arthritis and Musculoskeletal and Skin Diseases) - http://www.niams.nih.gov/Health_Info/Connective_Tissue/connective_tissue_ff.asp
Also available in Spanish http://www.niams.nih.gov/Portal_En_Espanol/Informacion_de_Salud/Tejido_conectivo/default.asp

Overviews

Questions and Answers about Heritable Disorders of Connective Tissue(National Institute of Arthritis and Musculoskeletal and Skin Diseases) - http://www.niams.nih.gov/Health_Info/Connective_Tissue/default.asp

Specific Conditions

Cutis Laxa(Merck & Co., Inc.) - http://www.merck.com/mmhe/sec23/ch279/ch279b.html
Dupuytren's Disease(American Society for Surgery of the Hand) - http://www.assh.org/AM/Template.cfm?Section=Hand_Conditions&Template=/CM/ContentDisplay.cfm&ContentID=7608
Limited Scleroderma (CREST Syndrome)(Mayo Foundation for Medical Education and Research) - http://www.mayoclinic.com/print/crest-syndrome/DS00580/DSECTION=all&METHOD=print
Lipomas(American Academy of Family Physicians) - http://familydoctor.org/online/famdocen/home/articles/763.printerview.html
Also available in Spanish http://familydoctor.org/online/famdoces/home/articles/763.printerview.html
Mixed Connective Tissue Disease(Mayo Foundation for Medical Education and Research) - http://www.mayoclinic.com/print/mixed-connective-tissue-disease/DS00675/DSECTION=all&METHOD=print
Mucopolysaccharidoses(National Institute of Neurological Disorders and Stroke) - http://www.ninds.nih.gov/disorders/mucopolysaccharidoses/detail_mucopolysaccharidoses.htm
Also available in Spanish http://espanol.ninds.nih.gov/trastornos/las_mucopolisacaridosis.htm
Mucopolysaccharidoses(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/mucopolysaccharidoses/mucopolysaccharidoses.htm
Related Disorders: Introduction(National Marfan Foundation) - http://www.marfan.org/nmf/GetContentRequestHandler.do?menu_item_id=78
Stickler Syndrome(Mayo Foundation for Medical Education and Research) - http://www.mayoclinic.com/print/stickler-syndrome/DS00831/DSECTION=all&METHOD=print
What Is PXE (Pseudoxanthoma Elasticum)?(PXE International, Inc.) - http://www.pxe.org/english/View.asp?x=1526

Related Issues

PXE and Cardiology(PXE International, Inc.) - http://www.pxe.org/english/View.asp?x=1490
PXE and Dentistry(PXE International, Inc.) - http://www.pxe.org/english/View.asp?x=1492
PXE and the Vascular System(PXE International, Inc.) - http://www.pxe.org/english/View.asp?x=1502
PXE: Frequently Asked Questions(PXE International, Inc.) - http://www.pxe.org/english/View.asp?x=1363
What Is Cellulite?(Nemours Foundation) - http://kidshealth.org/teen/your_body/beautiful/cellulite.html
Also available in Spanish http://kidshealth.org/teen/en_espanol/cuerpo/cellulite_esp.html

Clinical Trials

ClinicalTrials.gov: Connective Tissue Diseases(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Connective+Tissue+Diseases%22
ClinicalTrials.gov: Mixed Connective Tissue Disease(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Mixed+Connective+Tissue+Disease%22
ClinicalTrials.gov: Pseudoxanthoma Elasticum(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Pseudoxanthoma+Elasticum%22
NIH Pediatric Rheumatology Clinic(National Institute of Arthritis and Musculoskeletal and Skin Diseases) - http://www.niams.nih.gov/Health_Info/Pediatric_Diseases/default.asp

Genetics

Genetic Testing for PXE(PXE International, Inc.) - http://www.pxe.org/english/view.asp?x=1686
Genetics Home Reference: Achondrogenesis(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=achondrogenesis
Genetics Home Reference: Congenital contractural arachnodactyly(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=congenitalcontracturalarachnodactyly
Genetics Home Reference: Czech dysplasia(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=czechdysplasia
Genetics Home Reference: Hypochondrogenesis(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=hypochondrogenesis
Genetics Home Reference: Kniest dysplasia(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=kniestdysplasia
Genetics Home Reference: Otospondylomegaepiphyseal dysplasia(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=otospondylomegaepiphysealdysplasia
Genetics Home Reference: Platyspondylic lethal skeletal dysplasia, Torrance type(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=platyspondyliclethalskeletaldysplasiatorrancetype
Genetics Home Reference: Spondyloepimetaphyseal dysplasia, Strudwick type(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=spondyloepimetaphysealdysplasiastrudwicktype
Genetics Home Reference: Spondyloepiphyseal dysplasia congenita(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=spondyloepiphysealdysplasiacongenita
Genetics Home Reference: Spondyloperipheral dysplasia(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=spondyloperipheraldysplasia
Genetics Home Reference: Stickler syndrome(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=sticklersyndrome
Genetics Home Reference: Weill-Marchesani syndrome(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=weillmarchesanisyndrome
Genetics Home Reference: Weissenbacher-Zweymüller syndrome(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=weissenbacherzweymullersyndrome

Journal Articles

References and abstracts from MEDLINE/PubMed (National Library of Medicine)

Article: Autosomal recessive myosclerosis myopathy is a collagen VI disorder. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18852439&tool=MedlinePlus
Article: Liver disease in alpha 1-antitrypsin deficiency: a review. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18796107&tool=MedlinePlus
Article: Efficacy of the detection of the alpha1-antitrypsin "Z" deficiency variant... - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18794049&tool=MedlinePlus
Connective Tissue Disorders -- see more articles - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=search&db=pubmed&term=(connective+tissue+diseases[majr:noexp]+OR+alpha+1+antitrypsin+deficiency[majr]+OR+collagen+diseases[majr]+OR+cutis+laxa[majr]+OR+dermatomyositis[majr]+OR+homocystinuria[majr]+OR+mixed+connective+tissue+disease[majr]+OR+mucinoses[majr]+OR+noonan+syndrome[majr]+OR+osteopoikilosis[majr]+OR+panniculitis[majr]+OR+pseudoxanthoma+elasticum[majr]+OR+dupuytren's+contracture[majr]+OR+mucopolysaccharidoses[majr])+AND+humans[mh]+AND+english[la]+AND+(review[pt]+OR+guideline[pt]+OR+clinical+trial[pt]+OR+jsubsetk[text]+OR+jsubsetn[text]+OR+jsubsetaim[text]+OR+patient+education+handout[pt+OR+systematic[sb])+NOT+(letter[pt]+OR+editorial[pt]+OR+case+reports[pt])&doptcmdl=summary&cmd_current=Limits&pmfilter_EDatLimit=last+1+Year&tool=MedlinePlus
Connective tissue cancers -- see more articles - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=search&db=pubmed&term=neoplasms,connective+tissue[majr]+AND+english[la]+AND+humans[mh]+AND+(jsubsetk[text]+OR+jsubsetn[text]+OR+jsubsetaim[text]+OR+patient+education+handout[pt]+OR+systematic[sb])+NOT+(letter[pt]+OR+case+reports[pt]+OR+editorial[pt])&doptcmdl=summary&cmd_current=Limits&pmfilter_EDatLimit=last+1+Year&tool=MedlinePlus

Dictionaries/Glossaries

Glossary of Genetics Terms(PXE International, Inc.) - http://www.pxe.org/english/View.asp?x=1495

Organizations

Arthritis Foundation - http://www.arthritis.org/
Also available in Spanish http://www.arthritis.org/espanol/
National Institute of Arthritis and Musculoskeletal and Skin Diseases - http://www.niams.nih.gov/
Also available in Spanish http://www.niams.nih.gov/Portal_En_Espanol/
PXE International, Inc. - http://www.pxe.org/

Children

Juvenile Arthritis: Disease Types(Arthritis Foundation) - http://www.arthritis.org/ja-disease-types.php
PXE and Your Child(PXE International, Inc.) - http://www.pxe.org/english/View.asp?x=1491

Women

PXE Frequently Asked Questions: Women's Issues(PXE International, Inc.) - http://www.pxe.org/english/View.asp?x=1436

You may also be interested in these MedlinePlus related pages:

Cartilage Disorders - http://www.nlm.nih.gov/medlineplus/cartilagedisorders.html
Ehlers-Danlos Syndrome - http://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html
Lupus - http://www.nlm.nih.gov/medlineplus/lupus.html
Marfan Syndrome - http://www.nlm.nih.gov/medlineplus/marfansyndrome.html
Osteogenesis Imperfecta - http://www.nlm.nih.gov/medlineplus/osteogenesisimperfecta.html
Scleroderma - http://www.nlm.nih.gov/medlineplus/scleroderma.html
Soft Tissue Sarcoma - http://www.nlm.nih.gov/medlineplus/softtissuesarcoma.html
Bones, Joints and Muscles - http://www.nlm.nih.gov/medlineplus/bonesjointsandmuscles.html

The primary NIH organization for research on Connective Tissue Disorders is the National Institute of Arthritis and Musculoskeletal and Skin Diseases - http://www.niams.nih.gov/