Folliculocystic and collagenous hamartoma of tuberous sclerosis complex, not always a single cutaneous lesion

Pediatr Dermatol. 2020 Nov;37(6):1195-1197. doi: 10.1111/pde.14310. Epub 2020 Aug 17.

Abstract

Folliculocystic and collagenous hamartoma (FCCH) is a rare cutaneous manifestation characterized by the presence of single plaques studded with comedo-like openings and cysts. Although its pathophysiology is still unknown, it has generally been described in men with tuberous sclerosis complex (TSC). We report a case of a one-year-old child with two FCCH in the abdominal wall associated with TSC. In our case, a TSC2 mutation was identified.

Keywords: collagenous hamartoma; folliculocystic; tuberous sclerosis.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Cysts*
  • Hamartoma* / diagnosis
  • Humans
  • Infant
  • Male
  • Nevus*
  • Tuberous Sclerosis Complex 2 Protein
  • Tuberous Sclerosis* / complications
  • Tuberous Sclerosis* / diagnosis

Substances

  • Tuberous Sclerosis Complex 2 Protein