Rare Pulmonology News
Advertisement
Disease Profile
Stiff skin syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 >
Age of onset
Childhood
ICD-10
L98.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Categories
Congenital and Genetic Diseases; Skin Diseases
Summary
Stiff skin
Stiff skin syndrome is caused by
Symptoms
The thickening of the skin associated with stiff skin syndrome can result in difficulty moving joints, as they become stuck in the bent position (flexion contractures). This typically affects the larger joints, such as the shoulders, elbows, and knees. The ability to flex the joints of the fingers may also be affected, as individuals with this syndrome may develop nodules on the skin of the fingers. SSS is a slowly progressive syndrome, meaning that the signs and symptoms worsen as individuals get older.[4]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Lack of skin elasticity | 0100679 | |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] |
0001376 |
Thickened skin |
Thick skin
|
0001072 |
5%-29% of people have these symptoms | ||
Abnormal circulating lipid concentration | 0003119 | |
Aplasia/Hypoplasia of the skin |
Absent/small skin
Absent/underdeveloped skin
[ more ] |
0008065 |
0000501 | ||
0000822 | ||
Impaired pain sensation |
Decreased pain sensation
|
0007328 |
Lipoatrophy |
Loss of fat tissue in localized area
|
0100578 |
Lipodystrophy |
Inability to make and keep healthy fat tissue
|
0009125 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Muscle weakness |
Muscular weakness
|
0001324 |
Nephrolithiasis |
Kidney stones
|
0000787 |
0009830 | ||
Retinal detachment |
Detached retina
|
0000541 |
Sensorineural hearing impairment | 0000407 | |
Short stature |
Decreased body height
Small stature
[ more ] |
0004322 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] |
0001482 |
Type II |
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes
[ more ] |
0005978 |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Flexion |
Flexed joint that cannot be straightened
|
0001371 |
Stiff skin | 0030053 |
Cause
Mutations in the FBN1 gene that cause SSS affect the fibrillin-1 protein, which is thought to cause abnormal associations between fibrillin and another protein called elastin. When these two proteins interact abnormally in the extracellular matrix, this leads to the development of features of SSS.[3]
Mutations in the FBN1 gene are also associated with a different genetic syndrome called Marfan syndrome. The changes that cause SSS occur in a different part of a gene than the changes that cause Marfan syndrome.[3][6] It is possible that some cases of stiff skin syndrome occur in people without mutations in FBN1. More research will be necessary to determine if all cases of stiff skin syndrome are due to mutations in FBN1.[7]
Diagnosis
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
Some study findings on
Another recent paper discussed the possibility of using a medication that suppresses the
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Children's Skin Disease Foundation (CSDF)
1600 S. Main St
Suite 192B
Walnut Creek, CA 94596
Telephone: 925-947-3825
Fax: 866-236-6474
E-mail: [email protected]
Website: https://www.csdf.org/ -
Scleroderma Research Foundation
220 Montgomery Street, Suite 484
San Francisco, CA 94104
Telephone: +1-415-834-9444
E-mail: [email protected]
Website: https://srfcure.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Stiff skin syndrome. Click on the link to view a sample search on this topic.
References
- Chamney S, Cartmill B, Earley O, McConnell V, and Willoughby CE. The ocular phenotype of stiff-skin syndrome. Eye (Lond). January 2016; 30(1):156-159. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4709530/.
- Amorim AG, Aide MK, Duraes SM, and Rochael MC. Stiff skin syndrome--case report. An Bras Dermatol. 2011 Jul-Aug; 86(4 Suppl 1):S178-81. https://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962011000700046&lng=en&nrm=iso&tlng=en.
- Stiff Skin Syndrome, SSKS. Online Mendelian Inheritance of Man (OMIM). June 8, 2016; https://omim.org/entry/184900.
- Stiff skin syndrome. Orphanet. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2833. Accessed 9/10/2017.
- FBN1 gene. Genetics Home Reference. March 2015; https://ghr.nlm.nih.gov/gene/FBN1.
- Eckes B, Wang F, Moinzadeh P, Hunzelmann N, and Krieg T. Pathophysiological Mechanisms in Sclerosing Skin Diseases. Frontiers in Medicine. 2017; 4:120. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5563304/.
- Myers KL, Mir A, Schaffer JV, Meehan SA, Orlow SJ, and Brinster NK. Segmental stiff skin syndrome (SSS): A distinct clinical entity. Journal of the American Academy of Dermatology. July 2016; 75(1):163-168. https://www.ncbi.nlm.nih.gov/pubmed/26944597.
- Gerber EE, Gallo EM, Fontana SC, Davis EC, Wigley FM, Huso DL, and Dietz HC. Integrin-modulating therapy prevents fibrosis and autoimmunity in mouse models of scleroderma. Nature. November 7, 2013; 503(7474):126-30. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992987/.
- Kurtzman DJB, Wright NA, Patel M, and Vleugels RA. Segmental stiff skin syndrome (SSS): Two additional cases with a positive response to mycophenolate mofetil and physical therapy. Journal of the American Academy of Dermatology. December 2016; 75(6):237-239. https://www.ncbi.nlm.nih.gov/pubmed/27846975.
Rare Pulmonology News