title: [Constitutional mismatch repair deficiency syndrome].
abstract: BACKGROUND
  Constitutional mismatch repair deficiency (CMMR-D) syndrome is characterised by a significantly increased risk for developing cancer in childhood. It arises when both parents have a mutation in the same mismatch repair gene and pass it on to their child.
  
  
  METHODS
  An 8-year-old girl was diagnosed with CMMR-D syndrome after she developed a brain tumour at the age of 4 and a T-cell non-Hodgkin lymphoma at the age of 6. She had multiple hyperpigmented skin lesions and died of myelodysplastic syndrome at the age of 11.
  
  
  CONCLUSIONS
  In children with cancer CMMR-D syndrome can be recognized particularly if there are multiple primary malignancies and skin hyperpigmentations and hypopigmentations. The parents of these children are at high risk for colorectal and endometrial cancer (Lynch syndrome), amongst others.
authors.affiliation: Radboudumc, Nijmegen.
authors.forename: Marjolijn C
authors.initials: MC
authors.lastname: Jongmans
authors.forename: Corrie E
authors.initials: CE
authors.lastname: Gidding
authors.forename: Jan
authors.initials: J
authors.lastname: Loeffen
authors.forename: Pieter
authors.initials: P
authors.lastname: Wesseling
authors.forename: Arjen
authors.initials: A
authors.lastname: Mensenkamp
authors.forename: Nicoline
authors.initials: N
authors.lastname: Hoogerbrugge
mesh_terms: D001932:Brain Neoplasms / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D015179:Colorectal Neoplasms / Q000175:diagnosis* / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008228:Lymphoma, Non-Hodgkin / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D009378:Neoplasms, Multiple Primary; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis* / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins