MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S.
PIBI(D)S is a acronym for a very rare autosomal recessive syndrome consisting of photosensitivity, 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.
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Istituto di Clinica Dermosifilopatica, Università di Padova, Italy.
Battistella
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Bertoli
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D001479:Basal Ganglia / Q000473:pathology; D001921:Brain / Q000473:pathology*; D001928:Brain Diseases, Metabolic / Q000175:diagnosis / Q000235:genetics*; D002552:Cerebral Ventricles / Q000473:pathology; D002648:Child; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D009128:Muscle Spasticity / Q000175:diagnosis / Q000235:genetics*