Living with Lethal tight skin contracture syndrome
A rare inherited skin condition with very tight, thin skin, stiff joints, and reduced movement before birth.
Understanding Lethal tight skin contracture syndrome
The skin has erosions and scaling. It comes with typical facial differences, joint contractures (arthrogryposis), reduced movement before birth, and small lungs. It does not involve nerve problems. It may be noticed during pregnancy or in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff, tight skin
- Thickened skin (hyperkeratosis)
- Joint contractures (arthrogryposis)
- Reduced fetal movement
- Small lower jaw (micrognathia)
- Low-set ears
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 brain and nervous system specialists, 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
- Brain and nervous system specialists (neurologists); 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
It is caused by changes in genes. It can be inherited in an autosomal dominant or autosomal recessive way. GARD does not name a gene.
Also known as: infantile restrictive dermopathy; lethal hyperkeratosis-contracture syndrome; lethal restrictive dermopathy; lethal tight skin-contracture syndrome; restrictive dermopathy; restrictive dermopathy, lethal
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 Lethal tight skin contracture syndrome.
Explore research for Lethal tight skin contracture syndrome
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