Figure 1.

Local post‐radiotherapy reactions in the index patient (a–c), and her family pedigree (d). (a) Moist desquamation and skin abrasions (RTOG acute reaction grade 3) developing within few days after the last session of radiotherapy (RT, 66 Gy), (b) severe fibrosis and shrinkage together with telangiectasia after 1 year, and (c) marked telangiectasia, severe fibrosis, and necrosis (RTOG late reaction grade 3–4), requiring a surgical intervention 3 years after RT. (d) Pedigree of the family showing the segregation of ATM variants and clinical features. Index patient is indicated by the black arrow