Cutaneous Photosensitivity And Colitis, Lethal

Labrune et al. (1991) described early cutaneous photosensitivity and severe colitis in 3 of 4 sibs born to unrelated parents. All 3 affected sibs died from refractory diarrhea. The fourth sib, who had a different father, was normal. The first infant developed erythematous and vesicular lesions of the face after a 6-hour exposure to sun at the age of 2 weeks and died at the age of 6 months. The second sib, a girl, died at the age of 20 months after a similar course. Porphyria was excluded. Normal plasma zinc concentration in 1 of the sibs strongly argued against the diagnosis of acrodermatitis enteropathica (201100).