Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D

Am J Med Genet. 1994 Aug 15;52(2):227-30. doi: 10.1002/ajmg.1320520220.


We describe a girl with photosensitivity (P), ichthyosis (I), brittle hair (B), impaired intelligence (I), possibly decreased fertility (D), and short stature (S). The clinical findings fit into the PIBI(D)S syndrome and trichothiodystrophy. A remarkable and probably unique observation for this disorder was the intermittent character of the scalp hair loss during infectious periods in this patient. Easy suntanning suggested photosensitivity and prompted DNA repair studies which demonstrated reduced UV-induced DNA repair synthesis. Subsequent studies have assigned this patient to xeroderma pigmentosum group D and suggested a specific deficiency of 6-4 photoproduct repair. An unaffected child was diagnosed in the next pregnancy of the mother.

Publication types

  • Case Reports

MeSH terms

  • Alopecia / etiology*
  • Alopecia / genetics
  • Child, Preschool
  • Cystine / deficiency
  • DNA Repair*
  • Dwarfism / genetics
  • Fatal Outcome
  • Female
  • Hair / abnormalities*
  • Hair / chemistry
  • Hair / ultrastructure
  • Humans
  • Ichthyosis / genetics*
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Recurrence
  • Respiratory Tract Infections / complications
  • Sudden Infant Death
  • Syndrome
  • Xeroderma Pigmentosum / genetics*


  • Cystine