Overview
Congenital lethal erythroderma is an extremely rare and severe skin disorder that is present at birth. The term 'erythroderma' means widespread redness and scaling of the skin covering most or all of the body. In this condition, the skin barrier is severely damaged from the moment of birth, leading to massive fluid loss, difficulty regulating body temperature, and a very high risk of life-threatening infections. Babies born with this condition typically have bright red, thickened, or peeling skin over their entire body. The skin may crack and become painful, and there can be swelling and oozing. Because the skin plays such a critical role in protecting the body from the outside world, the breakdown of this barrier puts enormous stress on the newborn's body. Unfortunately, as the name suggests, this condition is lethal, meaning affected infants typically do not survive beyond the first days to weeks of life despite intensive medical care. Treatment is primarily supportive and focuses on maintaining hydration, preventing infection, managing temperature, and providing comfort. There is currently no cure or disease-modifying therapy available. The condition may also be referred to as congenital lethal erythroderma or lethal congenital erythroderma. It falls under the broader group of severe inherited skin disorders known as ichthyoses or keratinization disorders.
Key symptoms:
Widespread redness of the skin at birthSevere skin peeling and scaling over the entire bodyCracked and fragile skinFluid loss through damaged skinDifficulty maintaining body temperatureSkin infectionsSwelling of the skinFailure to thriveBreathing difficultiesFeeding problemsDehydrationElectrolyte imbalances
Clinical phenotype terms (9)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Congenital lethal erythroderma.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Congenital lethal erythroderma at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Congenital lethal erythroderma.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Congenital lethal erythroderma.
Community
No community posts yet. Be the first to share your experience with Congenital lethal erythroderma.
Start the conversation →Latest news about Congenital lethal erythroderma
No recent news articles for Congenital lethal erythroderma.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the expected course of this condition for our baby?,What comfort measures and supportive care can be provided?,Is genetic testing available to identify the exact cause?,What is the chance this could happen again in a future pregnancy?,Are there palliative care services available to help our family?,Can we get a referral to a genetic counselor?,Are there any research studies or registries we can participate in?
Common questions about Congenital lethal erythroderma
What is Congenital lethal erythroderma?
Congenital lethal erythroderma is an extremely rare and severe skin disorder that is present at birth. The term 'erythroderma' means widespread redness and scaling of the skin covering most or all of the body. In this condition, the skin barrier is severely damaged from the moment of birth, leading to massive fluid loss, difficulty regulating body temperature, and a very high risk of life-threatening infections. Babies born with this condition typically have bright red, thickened, or peeling skin over their entire body. The skin may crack and become painful, and there can be swelling and oozin
How is Congenital lethal erythroderma inherited?
Congenital lethal erythroderma follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital lethal erythroderma typically begin?
Typical onset of Congenital lethal erythroderma is neonatal. Age of onset can vary across affected individuals.