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Updated: May 26, 2026
08:27
A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome
Published on: May 22, 2019
Do you know this syndrome? Xeroderma pigmentosum (XP).
Fernanda de Oliveira Viana1, Luíza Helena dos Santos Cavaleiro, Clívia Maria Moraes de Oliveira Carneiro
1Dermatology Department, Universidade Federal do Pará, Belém, PA, Brasil. nandinhaviana@hotmail.com
Anais Brasileiros De Dermatologia
|December 8, 2011
Summary
Xeroderma pigmentosum (XP) patients have DNA repair defects and UV sensitivity. This case report details a child with XP and schizencephaly, a rare neurological finding not previously documented.
Area of Science:
- Genetics
- Neurology
- Dermatology
Background:
- Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder.
- XP is characterized by defective DNA repair, leading to extreme sun sensitivity and increased cancer risk.
- Neurological complications can occur in some XP patients.
Observation:
- A 2-year-old child presented with DeSanctis-Cacchione syndrome, a severe form of XP.
- The child exhibited severe neurological deterioration.
- Imaging revealed schizencephaly, a congenital brain malformation.
Findings:
- This is the first reported case associating Xeroderma pigmentosum with schizencephaly.
- The patient's severe neurological decline highlights potential complex phenotypes within XP.
- DeSanctis-Cacchione syndrome classification may need re-evaluation for broader neurological associations.
Implications:
- This case expands the known spectrum of neurological disorders associated with XP.
- Understanding the link between XP, DNA repair, and brain development is crucial.
- Further research is needed to explore the genetic and molecular mechanisms underlying this association.
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