Harlequin ichthyosis in a 4-year-old male: case report

  • Janice Natasha C Ng Southern Philippines Medical Center
  • Crystal R Lademora-Dinopol Southern Philippines Medical Center
  • Mary Jo Kristine S Bunagan Southern Philippines Medical Center
  • Jimenez L Margaret Stephanie Southern Philippines Medical Center
  • Jennifer Aileen Ang-Tangtatco Southern Philippines Medical Center


Harlequin ichthyosis (HI) is a rare type of congenital keratinization disorder that, when left untreated, usually leads to early neonatal demise. A clinical diagnosis of HI is considered when a patient presents with thick plate-like scaling of the skin together with eclabium, ectropion, and nasal hypoplasia. The diagnosis can be confirmed by genetic testing to determine mutation in the adenosine triphosphate-binding cassette A12 (ABCA12) gene. Early administration of systemic retinoids to promote desquamation and emollients to control excessive scaling and dryness of the skin lead to better prognosis in most cases of HI. We present the case of a 4-year-old male with HI who has been successfully managed with bland emollients and systemic acitretin therapy, which we started when he was 1 year old.

Aug 31, 2018
Case report