title: Do you know this syndrome? Xeroderma pigmentosum (XP).
abstract: 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.
authors.affiliation: Dermatology Department, Universidade Federal do Pará, Belém, PA, Brasil. nandinhaviana@hotmail.com
authors.forename: Fernanda de Oliveira
authors.initials: Fde O
authors.lastname: Viana
authors.forename: Luíza Helena dos Santos
authors.initials: LH
authors.lastname: Cavaleiro
authors.forename: Clívia Maria Moraes de Oliveira
authors.initials: CM
authors.lastname: Carneiro
authors.forename: Maraya de Jesus Semblano
authors.initials: Mde J
authors.lastname: Bittencourt
authors.forename: Renata Silva
authors.initials: RS
authors.lastname: Barros
authors.forename: Diana Mendes da
authors.initials: DM
authors.lastname: Fonseca
mesh_terms: D002675:Child, Preschool; D004392:Dwarfism / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007006:Hypogonadism / Q000150:complications / Q000175:diagnosis*; D008607:Intellectual Disability / Q000150:complications / Q000175:diagnosis*; D008297:Male; D054220:Malformations of Cortical Development / Q000150:complications / Q000175:diagnosis*; D014983:Xeroderma Pigmentosum / Q000150:complications / Q000175:diagnosis*