PIBI(D)S syndrome--trichothiodystrophy with xeroderma pigmentosum (group D) mutation.
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.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004260:DNA Repair; D005260:Female; D006197:Hair / Q000473:pathology; D006201:Hair Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D009154:Mutation; D009262:Nails / Q000473:pathology; D012867:Skin / Q000473:pathology; D013577:Syndrome; D009626:Terminology as Topic; D014983:Xeroderma Pigmentosum / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology