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Familial cutaneous photosensitivity and colitis with lethal outcome
P Labrune1, P Huguet, D Alagille
1Service de Pédiatrie Générale, Hôpital Antoine Béclère, Clamart, France.
Journal of Medical Genetics
|February 1, 1991
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.