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Case Reports
. 1991 Feb;28(2):114-6.
doi: 10.1136/jmg.28.2.114.

Familial cutaneous photosensitivity and colitis with lethal outcome

P Labrune  1 , P Huguet, D Alagille, M Odievre
Affiliations
Case Reports

Familial cutaneous photosensitivity and colitis with lethal outcome

P Labrune et al. J Med Genet. 1991 Feb.

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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