Whereas the onset of cutaneous and subcutaneous neurofibromas is usually seen after 8–10 years of age in patients with intragenic NF1 mutations, and in microdeletion type 1 NF1 individuals an earlier onset is not uncommon, it is difficult to define the neurofibromas burden in patients with atypical deletion [3]. The gene discussed is NF1; the disease is neurofibroma.