Abstract:
PURPOSE: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. METHOD: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. CONCLUSION: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.
journal_name
Disabil Rehabiljournal_title
Disability and rehabilitationauthors
Lioce E,Milani P,Bistolfi A,Capacchione P,Nascimbeni A,Massazza Gdoi
10.3109/09638288.2013.874504subject
Has Abstractpub_date
2014-01-01 00:00:00pages
1830-3issue
21eissn
0963-8288issn
1464-5165journal_volume
36pub_type
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journal_title:Disability and rehabilitation
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