Overview
Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome, also known as ADAM17 deficiency or ADAM17-related immunodeficiency, is an extremely rare genetic condition that affects the skin, immune system, and digestive tract from birth. The disease is caused by mutations in the ADAM17 gene, which plays an important role in processing proteins on cell surfaces that are involved in immune regulation, skin barrier function, and gut health. Babies born with this condition typically present with erythroderma, which means widespread redness and scaling of the skin shortly after birth. The immune system becomes overactive, leading to autoinflammation — the body attacks its own tissues without an infection being present. Children also develop inflammatory bowel disease, which causes chronic diarrhea, bloody stools, poor weight gain, and abdominal pain. Skin infections are common because the skin barrier is compromised, and patients may also be prone to other infections due to immune dysfunction. Treatment is mainly supportive and focuses on managing symptoms. This includes skin care to protect the barrier, medications to control inflammation in the gut, nutritional support, and infection prevention. Because the condition is so rare, there is no established cure, and management requires a team of specialists working together. Early diagnosis through genetic testing is important to guide treatment and monitor for complications.
Key symptoms:
Widespread red, scaly skin at birth (erythroderma)Chronic diarrheaBloody stoolsPoor weight gain and failure to thriveFrequent skin infectionsRecurrent infectionsAbdominal pain and crampingHair abnormalities or hair lossSkin thickening and peelingInflammation of the intestinesFever episodes without infectionGrowth delayNutritional deficiencies
Clinical phenotype terms (18)— 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 Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome.
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Specialists
View all specialists →No specialists are currently listed for Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome.
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 Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome.
Community
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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 severity of my child's condition, and what complications should I watch for?,What skin care routine do you recommend, and how can I prevent skin infections?,What treatments are available for the inflammatory bowel disease, and what are the side effects?,Does my child need special nutrition or feeding support?,Should we consider genetic counseling for future pregnancies?,Is bone marrow transplant an option for my child?,Are there any clinical trials or research studies we could participate in?
Common questions about Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome
What is Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome?
Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome, also known as ADAM17 deficiency or ADAM17-related immunodeficiency, is an extremely rare genetic condition that affects the skin, immune system, and digestive tract from birth. The disease is caused by mutations in the ADAM17 gene, which plays an important role in processing proteins on cell surfaces that are involved in immune regulation, skin barrier function, and gut health. Babies born with this condition typically present with erythroderma, which means widespread redness and scaling of the skin shortly after birt
How is Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome inherited?
Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome typically begin?
Typical onset of Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome is neonatal. Age of onset can vary across affected individuals.