National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Stiff skin syndrome

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My child has stiff skin syndrome. How is this syndrome treated? How will this condition affect her over time?

The following information may help to address your question:


What is stiff skin syndrome?

Stiff skin syndrome (SSS) is a rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures).[1] The onset of signs and symptoms can range from presenting at birth through childhood.[2] Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported.[2][3][ 

Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner.[1][3] Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy  to improve or maintain joint movement.[1]
Last updated: 9/21/2017

How might stiff skin syndrome be treated?

At this time, no specific therapies are available to reverse the symptoms of stiff skin syndrome (SSS). The recommended therapies aim to address issues moving the joints that may develop as a symptom of SSS. Regular physical therapy and exercise may be recommended to improve or maintain joint movement. A number of treatments have been tried in individual cases, including steroids, immunosuppressant drugs, psoralens (light-sensitizing medications), and light therapy. These treatments have not been helpful in slowing or stopping symptoms of SSS.[2]

Some study findings on animal models have indicated potential future therapeutic options. In one study, mice with stiff skin syndrome were treated by blocking certain antibodies (integrin binding and TGF-beta antibodies). This prevented new skin lesions and reversed existing ones.[4] You can read more about this discovery through the following link to the Scleroderma Research Society: http://www.srfcure.org/research/funded-research/3301-interrogation 

Another recent paper discussed the possibility of using a medication that suppresses the immune system called mycophenolate mofetil in combination with physical therapy to treat individuals with stiff skin syndrome. Although this treatment has only been used for a couple of affected individuals, the doctors noted an improvement in symptoms. However, these individuals had the segmental form of stiff skin syndrome. It is not known whether this treatment would work for every person with the segmental form of stiff skin syndrome, and it is not known if it will work at all for people with the classic form of stiff skin syndrome.[5]
Last updated: 9/21/2017

What is the long-term outlook for people with stiff skin syndrome?

There is very limited information about how stiff skin syndrome (SSS) affects a person during their teenage or adult years. Based upon case reports, it appears that stiff skin syndrome tends to slowly progress during childhood. It can involve joints, such as the knees and hips, which can limit movement and cause a deformity of the limbs. The loss of joint mobility may affect gait or posture. For this reason, some people with stiff skin syndrome walk on their tiptoes or have scoliosis. In severe cases, the syndrome may affect the chest and make breathing more difficult.[2]
Last updated: 9/21/2017

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

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GARD Information Specialist

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  1. 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/.
  2. 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. http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962011000700046&lng=en&nrm=iso&tlng=en.
  3. Stiff Skin Syndrome, SSKS. Online Mendelian Inheritance of Man (OMIM). June 8, 2016; https://omim.org/entry/184900.
  4. 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/.
  5. 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.