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Cutaneous photosensitivity-lethal colitis syndrome

Disease definition

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.

ORPHA:2881

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: L57.8
  • OMIM: 219095
  • UMLS: C1857449
  • MeSH: C536224
  • GARD: 1633
  • MedDRA: -

Additional information

Further information on this disease

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