PIBI(D)S syndrome--trichothiodystrophy with xeroderma pigmentosum (group D) mutation.

Abstract

An autosomal recessive syndrome is described that associates extreme photosensitivity with a defect of the deoxyribonucleic acid (DNA) excision repair system, mild noncongenital ichthyosis, brittle cystine-deficient hair, impaired intelligence, neurologic disorders, and short stature. A curious very sociable behavior, cataract and retinal dystrophy, recurrent infections, and unusual face are additional features. Fertility may be decreased. This syndrome is related to xeroderma pigmentosum complementation group D but differs from it in the absence of skin tumors, at least in the first two decades of life.

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@article{Rebora1987PIBIDSSW, title={PIBI(D)S syndrome--trichothiodystrophy with xeroderma pigmentosum (group D) mutation.}, author={Alfredo Enrico Rebora and Franco Crovato}, journal={Journal of the American Academy of Dermatology}, year={1987}, volume={16 5 Pt 1}, pages={940-7} }