Table 4

Non-neoplastic features in 146 CMMRD patients

FeatureNumber of individuals
Café au lait spots or area of skin hyperpigmentation91
Café au lait spots and other signs reminiscent of NF127
Area of skin hypopigmentation9
Mild defects in immunoglobulin class switch recombination: IgG2↓ and/or IgG4↓ and/or IgA↓ and/or IgM↑12
Agenesis of the corpus callosum with and without grey matter heterotopia4
Cavernous brain haemangioma3
Capillary haemangioma of skin2
Combination of congenital malformations (asplenia, left isomerism, ventricle septum defect)1
Lupus erythematosus2
  • CMMRD, constitutional mismatch repair deficiency.