Download from app store
We have detected that you are using an Ad Blocker.
PracticeUpdate is free to end users but we rely on advertising to fund our site. Please consider supporting PracticeUpdate by whitelisting us in your ad blocker.
We have sent a message to the email address you have provided, . If this email is not correct, please update your settings with your correct address.
The email address you provided during registration, , does not appear to be valid. Please update your settings with a valid address before to continue using PracticeUpdate.
Please provide your AHPRA Number to ensure that you are given the correct level of access to our site.
Published in Dermatology

Expert Opinion / Commentary · March 04, 2019

Dr. Warren Heymann: A Future Therapeutic Harlequin Romance?

Written by
Warren R. Heymann MD


Additional Info

  1. Sheth JJ, Bhavsar R, Patel D, et al. Harlequin ichthyosis due to novel splice sit mutation in the ABCA12 gene: postnatal to prenatal diagnosis. Int J Dermatol. 2018;57(4):428-433.
  2. Loo BKG, Batilando MJ, Tan EC, Koh MJA. Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis. BMJ Case Rep. 2018 Jan 3; 2018. pii: bcr-2017-222025.
  3. Rajpopat S, Moss C, Mellerio J, et al. Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. Arch Dermatol. 2011;147(6):681-686.
  4. Glick JB, Craiglow BG, Choate KA, et al. Improved management of harlequin ichthyosis with advances in neonatal intensive care. Pediatrics. 2017;139(1). pii: e20161003.
  5. Chang LM, Reyes M. A case of harlequin ichthyosis treated with isotretinoin. Dermatol Online J. 2014;20(2). pii: doj_21540.
  6. Damodaran K, Bhutada A, Rastogi S. A unique preparation and delivery method for acetretin for neonatal harlequin ichthyosis. J Pediatr Pharmacol Ther. 2018;23(2):164-167.
  7. Liang J, Chen P, Chen H, et al. Long-term safety and efficacy of continuous acitretin monotherapy for three children with different severe hyperkeratotic disorders in China. J Dermatol. 2018;45(8):1003-1008.
  8. Sitek JC, Merckoll E, Tølløfsrud PA. Osteopenia and multiple fractures in an infant with harlequin ichthyosis. JAMA Dermatol. 2018;154(7):847-849.
  9. Akiyama M, Sugiyama-Nakagiri Y, Sakai K, et al. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest. 2005;115(7):1777-1784.

Further Reading