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1.
Disabil Rehabil ; 36(21): 1830-3, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24383470

RESUMO

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.


Assuntos
Pessoas com Deficiência/reabilitação , Incontinência Pigmentar/reabilitação , Atividades Cotidianas , Encéfalo/patologia , Feminino , Humanos , Incontinência Pigmentar/patologia , Incontinência Pigmentar/cirurgia , Imageamento por Ressonância Magnética , Equilíbrio Postural , Recuperação de Função Fisiológica , Esportes para Pessoas com Deficiência , Caminhada , Adulto Jovem
2.
BMJ Case Rep ; 20102010 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-22767665

RESUMO

This study aimed to exhibit the effects of early physiotherapy and discusses post-treatment results on a patient with incontinentia pigmenti (IP) with encephalocele. Physiotherapy evaluations of the child included cognitive, fine and gross motor development assessed with the Bayley Scales of Infant and Toddler Development - Third Edition (Bayley-III), disability level with the gross motor function classification system, gross motor function with the gross motor function measurement (GMFM), and tonus evaluation with the Modified Ashworth Scale. The child was included in a physiotherapy and rehabilitation programme based on neurodevelopmental treatment three times a week. Although cognitive and motor development according to Bayley-III improved in the present case, motor and cognitive retardation became more apparent with growth. GMFM results indicated a large improvement from 5.88% to 47.73%. Presentation of this case shows the significance of early physiotherapy in this first study on physiotherapy for IP during the early rehabilitation process.


Assuntos
Deficiências do Desenvolvimento/diagnóstico , Intervenção Médica Precoce/métodos , Encefalocele/reabilitação , Incontinência Pigmentar/reabilitação , Modalidades de Fisioterapia , Transtornos Cognitivos/complicações , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/reabilitação , Deficiências do Desenvolvimento/reabilitação , Avaliação da Deficiência , Encefalocele/complicações , Encefalocele/diagnóstico , Feminino , Seguimentos , Humanos , Incontinência Pigmentar/complicações , Incontinência Pigmentar/diagnóstico , Lactente , Destreza Motora/fisiologia , Medição de Risco , Análise e Desempenho de Tarefas , Fatores de Tempo , Resultado do Tratamento
3.
Compend Contin Educ Dent ; 20(11): 1034-6, 1038, 1040-1, 1999 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-10650389

RESUMO

Incontinentia pigmenti is a rare syndrome of genetic origin that affects the melanin production of the melanocytes in the epidermis or superficial dermis. It is an X-linked dominate disease with lethality in males. The syndrome presents with skin and dental manifestations similar to ectodermal dysplasia and congenital syphilis. However, dental alternatives for achieving esthetic reconstruction differ. This article illustrates a case of cosmetic rehabilitation of an 18-year-old woman with incontinentia pigmenti.


Assuntos
Incontinência Pigmentar/reabilitação , Anormalidades Dentárias/reabilitação , Adolescente , Porcelana Dentária , Facetas Dentárias , Prótese Parcial Fixa , Feminino , Humanos , Incontinência Pigmentar/complicações , Anormalidades Dentárias/etiologia
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