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Figure 1: Clinical and histopathological features of two NF1 families. Family pedigrees (A). Freckling dots on the face (B) and café-au-lait spots (C) involving intrunk and buttocks of the proband in Family 1. Neurofibromatoses increased in size and number along with age inter-family members (D-F) in Family 1 with the same mutation. Only the clinical photos were taken from the proband of Family 2 (G), showing small and scaterred cutaneous tumors or subcutaneous nodules over the body surface. Histological examination of skin biopsies with neurofibromas observed the typical features of neurofibromas and spindle cell proliferations, with a mucinous background and many mast cells (H). |