Living with Stiff skin syndrome
A rare genetic condition with hard, thick skin that can limit how joints move.
Understanding Stiff skin syndrome
The thick skin can limit joint movement and cause joints to get stuck in a bent position (flexion contractures). Other signs can include extra hair growth, loss of body fat, a curved spine, muscle weakness, slow growth, and short stature. Signs may begin from birth through childhood. Doctors diagnose it with an exam and genetic testing can confirm it.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hard, thick skin
- Skin that lacks stretch
- Limited joint movement
- Patches of darker skin
- Extra hair growth (hypertrichosis)
- Curved spine and short stature (some people)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in FBN1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Scleroderma Research Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Scleroderma Research Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Scleroderma Research Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the FBN1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: ssks
Patient organizations
- Scleroderma Research FoundationStiff skin syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Stiff skin syndrome.
Explore research for Stiff skin syndrome
Explore actively recruiting Stiff skin syndrome studies with HealthSpark.
Find actively recruiting studies for Stiff skin syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Stiff skin syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Stiff skin syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Stiff skin syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.