Ichthyosis with confetti: a rare diagnosis and treatment plan

BMJ Case Rep. 2014 Jul 10:2014:bcr2014204509. doi: 10.1136/bcr-2014-204509.

Abstract

Congenital ichthyosis includes a group of rare skin disorders known for tiles of hyperkeratotic skin resembling fish scales. With age, the hyperkeratosis generally becomes more concentrated around joints which increases impairment. Ichthyosis with confetti, also known as ichthyosis variegata or congenital reticular ichthyosiform erythroderma, is an extremely rare form of ichthyosis. It usually begins as non-bullous congenital ichthyosiform erythroderma with the expected scaling. However, with time patients develop widespread 'confetti-like' patches of healthy skin. The healthy skin reflects clonal expansion of 'normal' or reverted cells. Cell reversion has potential for future therapies using revertant stem cells. Controlling symptoms with emollients is the goal of treatment for ichthyosis since it has no cure.

Publication types

  • Case Reports

MeSH terms

  • Diagnosis, Differential
  • Female
  • Humans
  • Ichthyosis, Lamellar / diagnosis*
  • Ichthyosis, Lamellar / therapy
  • Infant
  • Ointments / therapeutic use
  • Skin / pathology*

Substances

  • Ointments