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

J Am Acad Dermatol. 1987 May;16(5 Pt 1):940-7. doi: 10.1016/s0190-9622(87)70118-2.

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.

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • DNA Repair
  • Female
  • Hair / pathology
  • Hair Diseases / diagnosis*
  • Hair Diseases / genetics
  • Hair Diseases / pathology
  • Humans
  • Male
  • Mutation*
  • Nails / pathology
  • Skin / pathology
  • Syndrome
  • Terminology as Topic
  • Xeroderma Pigmentosum / diagnosis*
  • Xeroderma Pigmentosum / genetics
  • Xeroderma Pigmentosum / pathology