Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0043346 (
xeroderma pigmentosum
)
2,924
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Do you know this syndrome? Xeroderma pigmentosum (XP). 2214 55
