Living with Parana hard-skin syndrome
A rare inherited condition with stiff, thick skin over the whole body that limits movement and chest expansion.
Understanding Parana hard-skin syndrome
The hard skin limits movement, and movement of the chest and belly is severely restricted. This can cause breathing problems (respiratory insufficiency). Signs begin in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thick, hard skin
- Darker skin color over the body
- Restricted chest movement
- Breathing trouble (respiratory insufficiency)
- Slow growth
- Tapered fingers
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Children's Skin Disease Foundation
- 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 genes (also called variants) cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: hard skin syndrome parana type; hard skin syndrome, parana type; hard-skin syndrome, parana type; parana hard skin syndrome
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Parana hard-skin syndrome.
Explore research for Parana hard-skin syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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