Figures & data
Figure 1 Clinical sign of the proband and his sister. (A) beaded papules on both upper eyelids and (B) isolated papules on the lip of the proband. (C) papules on the eyelids and (D and E) mucosa infiltration of his sister.
Figure 2 Pedigree and sequencing results. (A) Pedigree of the family with two affected siblings. (B) Sanger validation of the ECM1 variants. II1: proband, II2: sister, I1: father, I2: mother.
Data Sharing Statement
Data are available on request from the corresponding author.