(A) Palmoplantar pits biopsied and non-biopsied. (B) Pectus excavatum. (C) Calcification of the falx cerebri. (D) The superficial dermis contains nests of basaloid tumor cells with peripheral palisading nuclei surrounded by mucinous stroma. (E) BCL-2 immunostaining illustrates focal brown staining of the tumor cells. Many of the tumor cells lack BCL-2 expression. (F) Chromatogram showing the forward sequencing results of the PTCH1 gene for the patient and his parents. The arrow indicates the position of the deleted nucleotide "C" in the patient. The sequence after the deleted "C" in the patient was deteriorated as expected when a sequence deletion is present.