ABSTRACT
In 2013, 74 families are diagnosed with CMMR-D syndrome.
Age of onset
Usually skin signs, when visible, precede internal malignancies, in infancy or early childhood.
Cutaneous findings
• Pigmentary changes indistinguishable from caféau-lait macules, located elsewhere on the skin surface (less frequently at major folds) and usually multiple (Figure 24.11)
• Multiple pilomatricomas (Figure 24.12) • Pigmentary changes and pilomatricomas may be
present in the same patient
Extracutaneous findings
• Early-onset (first or second decade) malignancies in all organs: – More frequently colorectal cancer – Brain tumors – Leukemia and lymphoma
• IgG deficiency
Course and prognosis
• Owing to the early onset of malignancies about half of patients died at a mean age of 12 years (2-25).
