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Cutaneous photosensitivity - lethal colitis

Orpha number ORPHA2881
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • L57.8
ICD-O -
OMIM
UMLS
  • C1857449
MeSH
  • C536224
MedDRA -

Summary

Association of early cutaneous photosensitivity and severe colitis was described 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. Main metabolic diseases were excluded, especially porphyria and acrodermatitis enteropathica (normal plasma zinc concentration was found in 1 of the sibs). The family history is in favour of an autosomal recessive disease.


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