Familial cutaneous photosensitivity and colitis with lethal outcome
- PMID: 2002480
- PMCID: PMC1016779
- DOI: 10.1136/jmg.28.2.114
Familial cutaneous photosensitivity and colitis with lethal outcome
Abstract
Three sibs out of four, born to unrelated parents, developed early cutaneous photosensitivity and severe colitis. All of them died from untreatable diarrhoea. A fourth boy, whose father was different, did not have the same symptoms. The origin of this syndrome remains unclear and, in particular, no metabolic defect could be detected.
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