Living with Gastrocutaneous syndrome
A rare skin pigment condition with freckle-like spots and café-au-lait spots, linked to a hiatal hernia and stomach ulcer.
Understanding Gastrocutaneous syndrome
It features many lentigines (small flat dark spots) and café-au-lait spots (light brown patches), along with hiatal hernia, peptic ulcer, wide-set eyes (hypertelorism), and nearsightedness. GARD says there have been no further descriptions in the medical literature since 1982. It may start in the teen years or adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Many small dark spots (lentigines)
- Light brown patches (café-au-lait spots)
- Hiatal hernia
- Stomach or bowel ulcer (peptic ulcer)
- Nearsightedness (myopia)
- Wide-set eyes (hypertelorism)
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 digestive 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
- Digestive system specialists (gastroenterologists); 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
Changes in genes cause this condition, and it is inherited in an autosomal dominant way, which means one changed copy of a gene can be enough. GARD does not name the gene.
Also known as: peptic ulcer/hiatal hernia, multiple lentigines/cafe-au-lait spots, hypertelorism, myopia
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 Gastrocutaneous syndrome.
Explore research for Gastrocutaneous syndrome
Explore actively recruiting Gastrocutaneous syndrome studies with HealthSpark.
Find actively recruiting studies for Gastrocutaneous syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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