[De Sanctis-Cacchione syndrome].
We present a male patient with photosensitivity since the earliest months of his life, and pigmented macules in exposed areas, some showing clinical atypia, which increased in number over time. Molecular biology studies detected an alteration in DNA repair ability, so xeroderma pigmentosum was diagnosed. Shortly after birth, low weight, microcephaly and psychomotor retardation had been observed, but the cause was not established. The patient progressively showed neurological disorders that included perceptive deafness, hyporeflexia and areflexia, as well as choreoathetotic movements. Therefore, we felt that the patient's symptoms fit De Sanctis-Cacchione syndrome.
Rosón
Elena
E
Servicio de Dermatología, Hospital Provincial, Complejo Hospitalario de Pontevedra, Spain. eroson64@yahoo.es
García-Doval
Ignacio
I
de la Torre
Carlos
C
Feal
Carlos
C
Cruces
Manuel
M
D002675:Child, Preschool; D006058:Gonadal Disorders / Q000175:diagnosis*; D006130:Growth Disorders / Q000175:diagnosis*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis*; D008297:Male; D009422:Nervous System Diseases / Q000175:diagnosis*; D010787:Photosensitivity Disorders / Q000175:diagnosis*; D013577:Syndrome; D014983:Xeroderma Pigmentosum / Q000175:diagnosis*