Living with Cutaneous photosensitivity-lethal colitis syndrome
A rare condition with sun sensitivity from infancy and severe, recurring bowel inflammation.
Understanding Cutaneous photosensitivity-lethal colitis syndrome
Sun exposure causes red, blistering sores on the face. The colitis (inflammation of the colon) is severe and recurring and leads to diarrhea that does not respond to treatment. It starts in newborns and infants. GARD notes there have been no further descriptions in the medical literature since 1991.
Signs & symptoms
GARD doesn't list a full symptom list for this condition. Its summary mentions these:
- Sun sensitivity from early life
- Red, blistering sores on the face after sun
- Severe, recurring colitis
- Diarrhea that is hard to treat
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.
- 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)
- 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 rare disease patient organizations for support
- 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
GARD lists autosomal recessive inheritance, meaning a child inherits a changed copy of the gene from each parent. GARD doesn't name a gene.
Patient organizations
Rare-disease groups that can help
- 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 Cutaneous photosensitivity-lethal colitis syndrome.
Explore research for Cutaneous photosensitivity-lethal colitis syndrome
Explore actively recruiting Cutaneous photosensitivity-lethal colitis syndrome studies with HealthSpark.
Find actively recruiting studies for Cutaneous photosensitivity-lethal colitis syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Cutaneous photosensitivity-lethal colitis syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Cutaneous photosensitivity-lethal colitis syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Cutaneous photosensitivity-lethal colitis syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.