title: Incontinentia pigmenti: a rare pathology with complex rehabilitative aspects.
abstract: OBJECTIVE
  Incontinentia pigmenti (IP), or Bloch-Sulzberger syndrome, is a rare X-linked dominant genetic disorder with multisystem involvement. To our knowledge, there are no previous reports about rehabilitation in IP adult with intact cognitive development. We report a 20-year-old lady with IP managed and followed into adulthood.
  
  
  METHODS
  Patient management and rehabilitation programs from birth to the last follow-up.
  
  
  RESULTS
  There was normal cognitive development despite magnetic resonance imaging (MRI) evidence of white matter, corpus callosum and brainstem hypoplasia. Extensor spasticity was present on both lower limbs for which she underwent rehabilitation from the age of one. Botulinum toxin injections were performed and when she was 15 years old she underwent functional surgery.
  
  
  CONCLUSIONS
  The absence of mental retardation in our patient enabled us to carry out an active rehabilitation program and provide her with maximum independence in locomotion and in activities of daily living. IMPLICATIONS FOR REHABILIATION: Incontinentia pigmenti (Bloch-Sulzberger syndrome). Incontinentia pigmenti is a rare X-linked dominant genetic disorder with multisystemic involvement. Skin lesions, neurological impairments, motormental retardation, skeletal congenital defects and ophthalmologic involvement are IP most frequent manifestations. Due to the complex multisystem involvement resulting in severe long-term disability, patients with IP require a multidisciplinary team approach for rehabilitation. In IP patients, rehabilitation interventions should always take into consideration the individual phenotype expression, child's physical development and personal needs.
authors.affiliation: School of Physical Medicine and Rehabilitation, University of the Studies of Turin , Turin , Italy .
authors.forename: Elisa
authors.initials: E
authors.lastname: Lioce
authors.forename: Patrizia
authors.initials: P
authors.lastname: Milani
authors.forename: Alessandro
authors.initials: A
authors.lastname: Bistolfi
authors.forename: Patrizia
authors.initials: P
authors.lastname: Capacchione
authors.forename: Alberto
authors.initials: A
authors.lastname: Nascimbeni
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Massazza
mesh_terms: D000203:Activities of Daily Living; D001921:Brain / Q000473:pathology; D006233:Persons with Disabilities / Q000534:rehabilitation*; D005260:Female; D006801:Humans; D007184:Incontinentia Pigmenti / Q000473:pathology / Q000534:rehabilitation* / Q000601:surgery; D008279:Magnetic Resonance Imaging; D004856:Postural Balance; D020127:Recovery of Function; D064846:Sports for Persons with Disabilities; D016138:Walking; D055815:Young Adult
keywords: Adult; cognitive development; functional surgery; incontinentia pigmenti; multisystem involvement