Literature DB >> 1528442

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

A Peserico1, P A Battistella, P Bertoli.   

Abstract

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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Mesh：

Year:  1992        PMID： 1528442     DOI： 10.1007/bf00588190

Source DB:  PubMed          Journal:  Neuroradiology        ISSN： 0028-3940            Impact factor:   2.804


  6 in total

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

Authors:  A Rebora; F Crovato
Journal:  J Am Acad Dermatol       Date:  1987-05       Impact factor: 11.527

Review 2.  Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias.

Authors:  P H Itin; M R Pittelkow
Journal:  J Am Acad Dermatol       Date:  1990-05       Impact factor: 11.527

3.  Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex.

Authors:  V H Price; R B Odom; W H Ward; F T Jones
Journal:  Arch Dermatol       Date:  1980-12

4.  MRI in Cockayne syndrome type I.

Authors:  E Boltshauser; C Yalcinkaya; W Wichmann; F Reutter; A Prader; A Valavanis
Journal:  Neuroradiology       Date:  1989       Impact factor: 2.804

5.  Primary segmental demyelination in the sural nerve in Cockayne's syndrome.

Authors:  A Ohnishi; A Mitsudome; Y Murai
Journal:  Muscle Nerve       Date:  1987-02       Impact factor: 3.217

6.  Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases.

Authors:  M D King; C L Gummer; J B Stephenson
Journal:  J Med Genet       Date:  1984-08       Impact factor: 6.318
  6 in total
  4 in total

1.  Cerebellar and cerebral atrophy in trichothiodystrophy.

Authors:  Hye-Kyung Yoon; Michael A Sargent; Julie S Prendiville; Kenneth J Poskitt
Journal:  Pediatr Radiol       Date:  2005-05-24

Review 2.  Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.

Authors:  S Faghri; D Tamura; K H Kraemer; J J Digiovanna
Journal:  J Med Genet       Date:  2008-06-25       Impact factor: 6.318

3.  Central nervous system dysmyelination in PIBI(D)S syndrome: a further case.

Authors:  P A Battistella; A Peserico
Journal:  Childs Nerv Syst       Date:  1996-02       Impact factor: 1.475

4.  Correction of xeroderma pigmentosum repair defect by basal transcription factor BTF2 (TFIIH).

Authors:  A J van Vuuren; W Vermeulen; L Ma; G Weeda; E Appeldoorn; N G Jaspers; A J van der Eb; D Bootsma; J H Hoeijmakers; S Humbert
Journal:  EMBO J       Date:  1994-04-01       Impact factor: 11.598
  4 in total

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