Familial cutaneousphotosensitivity andcolitis withlethal outcome

AbstractThree sibs out offour, born to unrelated parents, developed early cutaneous photosensitivity andsevere colitis. AU of them died from untreatablediarrhoea.Afourthboy,whosefatherwas different, didnothavethesamesymptoms.Theoriginofthissyndrome remains unclear and, in particular, no metabolic defect could be detected.The association of colitis and cutaneous photo-sensitivity has rarely been reported and such anassociation is not knownto be hereditary. Wereporton a family in whomthree out offour children were affected by early cutaneous photosensitivity andsevere colitis with lethal outcome. The origin ofthissyndrome is still to be determined.Case reports FAMILY HISTORY An unrelated, healthy couple had three affectedchildren(cases 1, 2, and3). Withanotherpartner, themotherhad a fourth boy, bornbetween cases 2and3.Soon after his birth, his mother predicted that thisinfant would not be affected by the same disease, since his father was different. This boy developed normally and is now a