Iberoamerican Journal of Medicine
https://www.iberoamjmed.com/article/doi/10.53986/ibjm.2024.0005
Iberoamerican Journal of Medicine
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Harlequin ichthyosis

Ictiosis arlequin

Gonzalo Oliván-Gonzalvo

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Keywords

Harlequin ichtyosis; Non-syndromic congenital ichtyosis; Autosomal recessive genetic disorder

Palabras clave

Ictiosis arlequin; Ictiosis congénita no sindrómica; Enfermedad autosómica recesiva

References

1. Shibata A, Akiyama M. Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan. Pediatr Int. 2015;57(4):516-22. doi: 10.1111/ped.12638.
2. Rajpopat S, Moss C, Mellerio J, Vahlquist A, Gånemo A, Hellstrom-Pigg M, et al. Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. Arch Dermatol. 2011;147(6):681-6. doi: 10.1001/archdermatol.2011.9.
3. Hotz A, Kopp J, Bourrat E, Oji V, Süßmuth K, Komlosi K, et al. Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis. Genes (Basel). 2023;14(3):717. doi: 10.3390/genes14030717.
4. Tsivilika M, Kavvadas D, Karachrysafi S, Sioga A, Papamitsou T. Management of Harlequin Ichthyosis: A Brief Review of the Recent Literature. Children (Basel). 2022;9(6):893. doi: 10.3390/children9060893.
5. Glick JB, Craiglow BG, Choate KA, Kato H, Fleming RE, Siegfried E, et al. Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care. Pediatrics. 2017;139(1):e20161003. doi: 10.1542/peds.2016-1003.


Submitted date:
09/29/2023

Reviewed date:
10/30/2023

Accepted date:
11/12/2023

Publication date:
11/12/2023

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