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Published in Dermatology

Expert Opinion / Commentary · March 04, 2019

Dr. Warren Heymann: A Future Therapeutic Harlequin Romance?

 

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.

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