Clinical and biological features of a patient with GCPS and CM. (A) Patient 1: diffuse CM, macrocephaly, and polydactyly. (B) Pedigrees and mutations of the 3 patients. (C) Structure of GLI3 protein. (D) Immunoblots of GLI3 with fibroblast extracts from patient 1 and 2 healthy controls; relative quantification of GLI3A/GLI3R ratio. (E) Histology showing MC infiltration throughout the dermis of patient 1 (a). Cell infiltrates are positive for CD117 (b), negative or weakly positive for GLI3 (c), positive for GLI1 notably in the nucleus (d), weakly positive for GLI2 (e), and strongly positive for SHH (f). (Fa-f) Histology showing MC infiltration throughout the digestive tract of patient 1 and immunostaining with the same antibodies as for skin. (E-F) Original magnification, ×10 and ×30 (insets).