Neurological manifestations of xeroderma pigmentosum due to XPA gene mutation
| Autor: | Orlando Graziani Povoas Barsottini, José Luiz Pedroso, Rubens Paulo Araújo Salomão |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
congenital hereditary and neonatal diseases and abnormalities 030103 biophysics Mutation medicine.medical_specialty Xeroderma pigmentosum integumentary system Cerebellar ataxia business.industry nutritional and metabolic diseases Neurogenetics General Medicine medicine.disease_cause medicine.disease Dermatology 03 medical and health sciences Photosensitivity Abnormal skin medicine Ultraviolet light Neurology (clinical) Xpa gene medicine.symptom skin and connective tissue diseases business |
| Zdroj: | Practical Neurology. 18:489-491 |
| ISSN: | 1474-7766 1474-7758 |
| DOI: | 10.1136/practneurol-2018-001888 |
| Popis: | Xeroderma pigmentosum is a group of rare autosomal recessive disorders characterised by skin sensitivity to ultraviolet light, a higher frequency of skin cancers, and abnormal skin pigmentation.1 Several neurological symptoms are described in xeroderma pigmentosum.2 We describe a young woman with xeroderma pigmentosum who presented with prominent neurological involvement and brain imaging abnormalities. A 17-year-old Brazilian woman, born from consanguineous parents, reported skin lesions and photosensitivity with minimal sun exposure, since the age of 1 year. When she was 5 years old, she presented with progressive gait disturbances, frequent falls, hearing … |
| Databáze: | OpenAIRE |
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