References:-
1. Thomas AC, Cullup T, Norgett EE, et al. ABCA12 is the major harlequin ichthyosis gene.J Invest Dermatol. 2006;126(11):2408-2413. doi:10.1038/sj.jid.5700455
2. Ramteke S, Agrawal A, Shrivastava J. Harlequin Icthyosis: A Rare Disorder. Indian J Case Reports. Published online September 27, 2016:69-71. doi:10.32677/IJCR.2016.v02.i03.007
3. Javed T, Afzal MF, Khan HI. Harlequin fetus: a case report. J Pak Assoc Dermatol. 2005;15(4):348-350. Accessed September 18, 2022. http://www.jpad.com.pk/index.php/jpad/article/view/670
4. Tayebi N, Yazdani K, Naghshin N. The prevalence of congenital malformations and its correlation with consanguineous marriages. Oman Med J. 2010;25(1):37-40. doi:10.5001/omj.2010.9
5. Holden S, Ahuja S, Ogilvy-Stuart A, Firth HV, Lees C. Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasound. Prenat Diagn. 2007;27(6):566-567. doi:10.1002/pd.1727
6. Couto PA, Pastore MC, Araújo JCN, et al. Harlequin Ichthyosis: Case Report. Journal of the Portuguese Society of Dermatology and Venereology. 2019;77(1):55-58. https://revista.spdv.com.pt/index.php/spdv/article/download/984/619/
7. Dyer JA, Spraker M, Williams M. Care of the newborn with ichthyosis. Dermatol Ther. 2013;26(1):1-15. doi:10.1111/j.1529-8019.2012.01555.x
8. Salehin S, Azizimoghadam A, Abdollahimohammad A, Babaeipour-Divshali M. Harlequin ichthyosis: Case report. J Res Med Sci. 2013;18(11):1004-1005. https://www.ncbi.nlm.nih.gov/pubmed/24520234
9. Tahir A, Tariq SM, Haider SA, Hasan M. Ichthyosis Congenita, Harlequin Type: A Fatal Case Report.Cureus. 2018;10(10):e3524. doi:10.7759/cureus.3524
10. Kelsell DP, Norgett EE, Unsworth H, et al. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet. 2005;76(5):794-803. doi:10.1086/429844
11. Fatima S, Rafiq A, Majid Z. Harlequin ichthyosis in an infant born to a father with eczema.J Trop Pediatr. 2015;61(2):143-145. doi:10.1093/tropej/fmu072
12. Rathore S, David LS, Beck MM, Bindra MS, Arunachal G. Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis. J Clin Diagn Res. 2015;9(11):QD04-QD06. doi:10.7860/JCDR/2015/15250.6705
13. Shimizu A, Akiyama M, Ishiko A, Yoshiike T, Suzumori K, Shimizu H. Prenatal exclusion of harlequin ichthyosis; potential pitfalls in the timing of the fetal skin biopsy. Br J Dermatol. 2005;153(4):811-814. doi:10.1111/j.1365-2133.2005.06778.x
14. Akiyama M, Titeux M, Sakai K, et al. DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences. J Invest Dermatol. 2007;127(3):568-573. doi:10.1038/sj.jid.5700617
15. Ogbe W Z, Alarabi TGM. Harlequin ichthyosis: A case report of severe presentation in Eritrea.Clin Case Rep. 2020;8(11):2152-2154. doi:10.1002/ccr3.3076
16. Tsivilika M, Kavvadas D, Karachrysafi S, Sioga A, Papamitsou T. Management of Harlequin Ichthyosis: A Brief Review of the Recent Literature. Children. 2022;9(6). doi:10.3390/children9060893
17. 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. doi:10.1001/archdermatol.2011.9
18. Sharma A, Rozzelle A, Jahnke MN, et al. ABCA12 homozygous mutation in harlequin ichthyosis: Survival without systemic retinoids. Pediatr Dermatol. 2019;36(3):339-341. doi:10.1111/pde.13770
Figure legends:
Figure 1. Extensive areas of diamond-like skin and fissuring characteristic of harlequin ichthyosis.