| Autor: |
Fernanda de Oliveira, Viana, Luíza Helena dos Santos, Cavaleiro, Clívia Maria Moraes de Oliveira, Carneiro, Maraya de Jesus Semblano, Bittencourt, Renata Silva, Barros, Diana Mendes da, Fonseca |
| Rok vydání: |
2011 |
| Předmět: |
|
| Zdroj: |
Anais brasileiros de dermatologia. 86(5) |
| ISSN: |
1806-4841 |
| Popis: |
Xeroderma pigmentosum is a rare genetic disease characterized by clinical and cellular hypersensitivity to ultraviolet radiation and DNA repair defects. Patients with xeroderma pigmentosum experience sun-induced cutaneous and ocular abnormalities, including cancer. Some develop neurological disorders. We describe the case of a 2 year-old child with DeSanctis-Cacchione's syndrome, with severe neurological deterioration associated with schizencephaly. In the current clinical classification of xeroderma pigmentosum, the term is reserved for cases with severe neurological disorders linked to dwarfism and immature sexual development. The association of xeroderma pigmentosum with schizencephaly has not to date been reported in the literature. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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