Fig. 1

Clinical features. Patient 1 showing: (A) Depressed nasal bridge with midface hypoplasia; (B–D) Fine Blaschko lines with disseminated hypo and hyperpigmentation in trunk and superior limbs. Patient 2 at 15 months: (E) Note wide and very depressed nasal bridge, midface hypoplasia and long philtrum; (F) Camptodactyly of the left 2nd finger; (G) Complete syndactyly of the 2nd, 3rd and 4th toes and (H) Inferior limbs with hyperpigmented fine Blaschko lines. Patient 3 at 4 years 11 months showing: (I–J) Broad hyperpigmented BL in trunk and (K) Fine hyperpigmented Blaschko lines in lower limbs