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.
De Sanctis-Cacchione Syndrome
 
  Key words
 
 
  
   xeroderma pigmentosum
  
 
 
  
   De Sanctis-Cacchione syndrome
  
 
 
  
   photosensitivity
  
 
 
  
   ephelides
  
 
 
  
   skin cancer
  
 
 
  
   neurological disorders
  
 
Abstract
 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 <dis>psychomotor retardation</dis> had been observed, but the cause was not established.
The patient progressively showed neurological disorders that included <dis>perceptive deafness</dis>, hyporeflexia and areflexia, as well as choreoathetotic movements.
Therefore, we felt that the patient's symptoms fit De Sanctis- Cacchione syndrome.
Abstract
 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.
The patient progressively showed neurological disorders that included <dis>perceptive deafness</dis>, hyporeflexia and areflexia, as well as choreoathetotic movements. Therefore, we felt that the patient's symptoms fit De Sanctis- Cacchione syndrome.
perceptive deafness
DISABILITY