Diagnostic Neuroradiology


, Volume 34, Issue 4, pp 316-317

First online:

MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S

  • A. PesericoAffiliated withIstituto di Clinica Dermosifilopatica, Università di Padova
  • , P. A. BattistellaAffiliated withDipartimento di Pediatria, Università di Padova
  • , P. BertoliAffiliated withIstituto di Clinica Dermosifilopatica, Università di Padova

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PIBI(D)S is a acronym for a very rare autosomal recessive syndrome consisting of photosensivity, mild non-congenital ichthyosis, brittle cystine-deficient hair, impaired intelligence, occasionally decreased fertility and short stature. We report a 12-year-old female patient affected by PIBI(D)S with previously unreported MRI findings of central nervous system dysmyelination.

Key words

PIBI(D)S Trichothiodystrophy Central nervous system dysmyelination Magnetic resonance imaging Cockayne syndrome