Gastrocutaneous syndrome

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ORPHA:2069OMIM:137270Q85.8
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Overview

Gastrocutaneous syndrome is an extremely rare condition that affects both the skin and the stomach or digestive system. It is sometimes referred to as 'peptic ulcer and hiatal hernia with skin changes' or associated with the combination of peptic ulcer disease, hiatal hernia (where part of the stomach pushes up through the diaphragm), and distinctive skin findings. The skin problems may include lentigines (small dark spots on the skin), café-au-lait spots, or other pigmentary changes. Some patients also have features affecting the nails or hair. Because this syndrome is so rare, with only a handful of cases described in the medical literature, our understanding of it remains limited. The condition appears to be present from birth or early life, though digestive symptoms may become more noticeable over time. Treatment is mainly focused on managing individual symptoms — for example, treating peptic ulcers with acid-reducing medications and addressing skin concerns as needed. There is currently no cure or specific targeted therapy for gastrocutaneous syndrome. Patients benefit from a team of specialists who can address both the gastrointestinal and skin components of the disease.

Key symptoms:

Dark spots or freckle-like marks on the skin (lentigines)Café-au-lait spots (light brown flat birthmarks)Peptic ulcers (sores in the stomach or upper intestine)Hiatal hernia (part of the stomach pushing through the diaphragm)Stomach pain or heartburnNail abnormalitiesHair changes or thinningSkin pigmentation changesDigestive discomfort or acid reflux

Clinical phenotype terms (13)— hover any for plain English
Multiple lentiginesHP:0001003Coronary artery atherosclerosisHP:0001677Hiatus herniaHP:0002036Peptic ulcerHP:0004398
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Gastrocutaneous syndrome.

View clinical trials →

No actively recruiting trials found for Gastrocutaneous syndrome at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Gastrocutaneous syndrome community →

No specialists are currently listed for Gastrocutaneous syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Gastrocutaneous syndrome.

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Community

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Latest news about Gastrocutaneous syndrome

No recent news articles for Gastrocutaneous syndrome.

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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 tests do we need to confirm the diagnosis and rule out similar conditions?,How often should my stomach and skin be monitored?,What medications are best for managing my ulcer symptoms?,Are there any warning signs I should watch for at home?,Should genetic testing be done for my family members?,Are there any dietary changes that could help my symptoms?,Is there any ongoing research or clinical trials for this condition?

Common questions about Gastrocutaneous syndrome

What is Gastrocutaneous syndrome?

Gastrocutaneous syndrome is an extremely rare condition that affects both the skin and the stomach or digestive system. It is sometimes referred to as 'peptic ulcer and hiatal hernia with skin changes' or associated with the combination of peptic ulcer disease, hiatal hernia (where part of the stomach pushes up through the diaphragm), and distinctive skin findings. The skin problems may include lentigines (small dark spots on the skin), café-au-lait spots, or other pigmentary changes. Some patients also have features affecting the nails or hair. Because this syndrome is so rare, with only a ha

How is Gastrocutaneous syndrome inherited?

Gastrocutaneous syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.