Overview
Severe dermatitis-multiple allergies-metabolic wasting syndrome (also known as SAM syndrome when caused by DSG1 mutations, or sometimes referred to as severe dermatitis, allergies, and metabolic wasting) is an extremely rare genetic condition that affects the skin, immune system, and metabolism. It typically appears very early in life, often in the newborn period or early infancy. Affected babies develop widespread, severe skin inflammation (dermatitis) that can look red, raw, and painful. The skin barrier is severely compromised, which leads to fluid and protein loss through the damaged skin, contributing to poor weight gain and metabolic wasting — meaning the body cannot maintain proper nutrition and growth despite adequate feeding. Children with this condition also develop multiple severe allergies, including food allergies, and may have elevated levels of immunoglobulin E (IgE) in their blood, similar to what is seen in severe eczema or other allergic conditions. The immune system does not function properly, which can make these children more vulnerable to skin and systemic infections. Some patients may also experience diarrhea and other gastrointestinal problems that worsen their nutritional status. The treatment landscape is currently limited and primarily supportive. Management focuses on intensive skin care, nutritional support (sometimes requiring intravenous nutrition), infection prevention and treatment, and allergy management. In some cases, bone marrow transplantation has been considered. The condition is life-threatening, particularly in infancy, and requires coordinated care from multiple specialists. Research is ongoing to better understand the underlying mechanisms and develop more targeted therapies.
Also known as:
Key symptoms:
Severe widespread skin redness and inflammation from birthPeeling or raw-looking skinFailure to gain weight or grow properlyMultiple food allergiesVery high allergy antibody levels in the blood (elevated IgE)Frequent skin infectionsDiarrhea or other digestive problemsProtein loss through damaged skinFluid imbalance and dehydrationPoor feeding or difficulty tolerating feedsSwelling of the body due to low protein levelsRecurrent infections beyond the skinItching and skin discomfort
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 Severe dermatitis-multiple allergies-metabolic wasting syndrome.
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Specialists
View all specialists →No specialists are currently listed for Severe dermatitis-multiple allergies-metabolic wasting 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 Severe dermatitis-multiple allergies-metabolic wasting 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 specific genetic mutation does my child have, and how does it affect the severity of the condition?,What is the best skin care routine to protect my child's skin and reduce infections?,What dietary plan is safest given my child's multiple allergies?,Is my child a candidate for bone marrow transplantation, and what are the risks and benefits?,How will we monitor my child's growth and nutritional status over time?,Are there any clinical trials or new treatments being studied for this condition?,What are the chances of having another child with this condition, and what genetic counseling is available?
Common questions about Severe dermatitis-multiple allergies-metabolic wasting syndrome
What is Severe dermatitis-multiple allergies-metabolic wasting syndrome?
Severe dermatitis-multiple allergies-metabolic wasting syndrome (also known as SAM syndrome when caused by DSG1 mutations, or sometimes referred to as severe dermatitis, allergies, and metabolic wasting) is an extremely rare genetic condition that affects the skin, immune system, and metabolism. It typically appears very early in life, often in the newborn period or early infancy. Affected babies develop widespread, severe skin inflammation (dermatitis) that can look red, raw, and painful. The skin barrier is severely compromised, which leads to fluid and protein loss through the damaged skin,
How is Severe dermatitis-multiple allergies-metabolic wasting syndrome inherited?
Severe dermatitis-multiple allergies-metabolic wasting syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Severe dermatitis-multiple allergies-metabolic wasting syndrome typically begin?
Typical onset of Severe dermatitis-multiple allergies-metabolic wasting syndrome is neonatal. Age of onset can vary across affected individuals.