The link between hidradenitis suppurativa and phylloid hypomelanosis in partial trisomy-13 mosaicism: New evidences and further genetic/pathogenetic insights

Pediatr Dermatol. 2021 May;38(3):637-639. doi: 10.1111/pde.14540. Epub 2021 Mar 13.

Abstract

Partial trisomy-13 mosaicism (PT13M) is a rare condition. Among its possible associated cutaneous features, phylloid hypomelanosis (PH), characterized by leaf-like macules reminiscent of floral ornaments in the form of round or oval spots and patches and oblong lesions, is typical. Two cases of PH associated with hidradenitis suppurativa (HS) have been already reported in the literature. We report a third child with PH due to PT13M associated with HS-like lesions limited to hypomelanotic regions. We hypothesize that follicular occlusion genes may be located in the duplicated part of chromosome 13.

Keywords: Patau syndrome; hidradenitis suppurativa; hypopigmentation; partial trisomy-13 mosaicism; phylloid hypomelanosis.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Hidradenitis Suppurativa*
  • Humans
  • Hypopigmentation* / genetics
  • Mosaicism
  • Skin
  • Trisomy / genetics