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Cutaneous photosensitivity-lethal colitis syndrome

ORPHA:2881· ICD-10 L57.8

Definition

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

Prevalence
<1 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Infancy, Neonatal