An ANKRD26 nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome)

Abstract

Epidermodysplasia verruciformis (EV) is an extremely rare hereditary skin disease characterized by an abnormal susceptibility to the human papilloma virus (HPV) with an increased risk of cutaneous malignancy. Here we report the first female severe EV case in Bangladesh, a 10-year-old girl with a nonsense somatic mutation impacting ANKRD26 gene.

Keywords: epidermodysplasia verruciformis; nonsense mutation; somatic mutation; whole genome sequencing.

Figure 1

Histology and molecular profile of a female epidermodysplasia verruciformis case; A, presurgical status of nontender papulonodularor tree bark‐like lesion observed in multiple facial spots; B, histology report from immunohistochemistry on the surgically resected bark‐like lesion shows large cytoplasm characteristic to HPV and parakeratosis; C, Sanger sequencing chromatogram for DNA extracted from bark‐like tissue and D, blood showing consistently the differential pick of the mosaic stop gain mutation (T allele). E, Protein expression profile of ANKRD26,EVER1 and EVER2 from 30 developmental (prenatal to adult) human tissues. The y‐axis is the gene protein spectral count for each tissue