Trichothiodystrophy associated with photosensitivity, gonadal failure, and striking osteosclerosis

J Am Acad Dermatol. 1993 May;28(5 Pt 2):820-6. doi: 10.1016/0190-9622(93)70109-7.


Three new unrelated cases of PIBIDS (Photosensitivity, Ichthyosis, Brittle, sulfur-deficient hair [trichothiodystrophy], Impaired intelligence, Decreased fertility, and Short stature) are reported. Decreased survival of skin fibroblast lines after UVB exposure was found. All three male patients had hypogonadism and primary end-organ gonadal failure. Striking osteosclerosis was present in all three patients. To the best of our knowledge the third patient is the first reported case of a black man with PIBIDS.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Age Determination by Skeleton
  • Body Height
  • Child, Preschool
  • Face
  • Hair / abnormalities*
  • Humans
  • Hypogonadism* / pathology
  • Ichthyosis / pathology
  • Intellectual Disability
  • Male
  • Osteosclerosis* / pathology
  • Photosensitivity Disorders* / pathology
  • Sexual Maturation
  • Sulfur / deficiency*
  • Syndrome


  • Sulfur