Overview
Cutaneous photosensitivity-lethal colitis syndrome is an extremely rare genetic condition that combines two major problems: severe skin sensitivity to sunlight (photosensitivity) and a life-threatening inflammation of the large intestine (colitis). Affected infants typically develop noticeable skin reactions when exposed to sunlight, including redness, blistering, or rash. At the same time, they develop severe bowel inflammation that causes bloody diarrhea, poor feeding, failure to thrive, and significant digestive distress. The colitis component of this syndrome is described as lethal, meaning it can be fatal, often in infancy or early childhood. Because this condition is so rare, with only a handful of cases reported in the medical literature, the understanding of its exact cause, best treatments, and long-term outlook remains very limited. Treatment is primarily supportive, focusing on strict sun protection for the skin and managing the colitis with anti-inflammatory medications, nutritional support, and sometimes surgical intervention. Despite these efforts, the prognosis has historically been very poor due to the severity of the intestinal disease. Families affected by this condition benefit from coordinated care involving multiple specialists and genetic counseling to understand recurrence risks.
Key symptoms:
Severe skin sensitivity to sunlightSkin redness or blistering after sun exposureBloody diarrheaSevere inflammation of the large intestine (colitis)Poor feeding and difficulty gaining weightFailure to thrive in infancyAbdominal pain and crampingDehydration from chronic diarrheaSkin rash in sun-exposed areasGeneral weakness and poor growth
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 Cutaneous photosensitivity-lethal colitis syndrome.
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Specialists
View all specialists →No specialists are currently listed for Cutaneous photosensitivity-lethal colitis 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 Cutaneous photosensitivity-lethal colitis 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
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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 expected course of this disease for my child?,Are there any genetic tests that could help identify the exact cause?,What are the best options for managing the colitis, and what should I watch for as warning signs of worsening?,How should we protect my child's skin, and are there specific products you recommend?,Is there any ongoing research or clinical trials that might be relevant?,What nutritional support does my child need, and will they need IV nutrition?,What are the chances of this condition occurring in future pregnancies?
Common questions about Cutaneous photosensitivity-lethal colitis syndrome
What is Cutaneous photosensitivity-lethal colitis syndrome?
Cutaneous photosensitivity-lethal colitis syndrome is an extremely rare genetic condition that combines two major problems: severe skin sensitivity to sunlight (photosensitivity) and a life-threatening inflammation of the large intestine (colitis). Affected infants typically develop noticeable skin reactions when exposed to sunlight, including redness, blistering, or rash. At the same time, they develop severe bowel inflammation that causes bloody diarrhea, poor feeding, failure to thrive, and significant digestive distress. The colitis component of this syndrome is described as lethal, meanin
How is Cutaneous photosensitivity-lethal colitis syndrome inherited?
Cutaneous photosensitivity-lethal colitis syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Cutaneous photosensitivity-lethal colitis syndrome typically begin?
Typical onset of Cutaneous photosensitivity-lethal colitis syndrome is neonatal. Age of onset can vary across affected individuals.