PMC7007026_01
Multiple erythematous papules and hypertro phic scars on the trunk
abd-94-04-0487-g01.jpg
PMC7007026_01_abd-94-04-0487-g01.jpg
f1
Examination revealed multiple papules and erythematous nodules on the face, back, and thorax, palmar pits, hypertelorism, frontal bossing, and increased volume in the left maxillary region (Figure 1).
c.2778G>T variant, a de novo which changes Trp to Cys in codon 926
abd-94-04-0487-g02.jpg
PMC7007026_01_abd-94-04-0487-g02.jpg
f2
T is a de novo mutation, and according to amino acid prediction programs (PolyPhen, SIFT, MutationTaster) this variant is probably pathogenic (Figure 2).
Sonic Hedgehog pathway
abd-94-04-0487-g03.jpg
PMC7007026_01_abd-94-04-0487-g03.jpg
f3
Activated SMO stimulates the transcription factor Gli, promoting cell proliferation and tumor growth (Figure 3).