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cutaneous photosensitivity-lethal colitis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cutaneous photosensitivity-lethal colitis syndrome

MONDO:0009051

Also known as:cutaneous photosensitivity and colitis, lethalearly cutaneous photosensitivity and severe colitis

Overview

Cutaneous photosensitivity and lethal colitisis is a rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.

GeneticsAutosomal recessive

Clinical Presentation

Features include: Diarrhea, Colitis, Early cutaneous photosensitivity, and Erythema.

Organ System	Phenotype Count	Example Features
Digestive system	2	Diarrhea, Colitis
Skin	2	Early cutaneous photosensitivity, Erythema

Explore clinical features

Diagnosis

Biomarker and diagnostic research for cutaneous photosensitivity-lethal colitis syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for cutaneous photosensitivity-lethal colitis syndrome.

19 publications have been identified in PubMed for cutaneous photosensitivity-lethal colitis syndrome. Research spans Case Report / Case Series (42%), Review / Meta-Analysis (26%), and Basic Science / Preclinical (16%).

Research Type	Count	% of Total
Patient case studies	8	42%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:219095

Orphanet

European rare disease database

Orphanet:2881

GARD

Genetic and Rare Diseases Info Center

GARD:1633

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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cutaneous photosensitivity-lethal colitis syndrome

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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