Abstract
Harlequin ichthyosis is a rare severe scaling disorder and the most devastating congenital ichthyosis, which manifests in utero and is often fatal early in life.
References
Aggarwal, S., Kar, A., Bland, P., et al. (2015). Novel ABCA12 mutations in harlequin ichthyosis: A journey from photo diagnosis to prenatal diagnosis. Gene, 556, 254–256.
Akiyama, M. (1998). Severe congenital ichthyosis of the neonate. International Journal of Dermatology, 37, 722–728.
Akiyama, M. (2006). Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases. Archives of Dermatology, 142, 914–918.
Akiyama, M. (2010). ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic concepts. Human Mutation, 31, 1090–1096.
Akiyama, M., & Shimizu, H. (2008). An update on molecular aspects of the nonsyndromic ichthyoses. Experimental Dermatology, 17, 373–382.
Akiyama, M., Dale, B. A., Smith, L. T., et al. (1998). Regional difference in expression of characteristic abnormality of harlequin ichthyosis in affected fetuses. Prenatal Diagnosis, 18, 425–436.
Akiyama, M., Suzumori, K., & Shimizu, H. (1999). Prenatal diagnosis of harlequin ichthyosis by the examination of keratinized hair canals and amniotic fluid cells at 19 weeks’ estimated gestational age. Prenatal Diagnosis, 19, 167–171.
Akiyama, M., Sugryama-Nakagini, Y., Sakai, K., et al. (2005). Mutations in ABCA12 in harlequin ichthyosis and fictional rescue by corrective gene transfer. The Journal of Clinical Investigation, 115, 1777–1784.
Akiyama, M., Sakai, K., Sugiyama-Nakagiri, Y., et al. (2006). Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity. The Journal of Investigative Dermatology, 126, 1518–1523.
Akiyama, M., Titeux, M., Sakai, K., et al. (2007). DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences. The Journal of Investigative Dermatology, 127, 568–573.
Bale, S. J., & Richards, G. (2009). Autosomal recessive congenital ichthyosis. GeneReviews. Updated 19 Nov 2009. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=li-ar.
Bongain, A., Benoit, B., Ejnes, L., et al. (2002). Harlequin fetus: Three-dimensional sonographic findings and new diagnostic approach. Ultrasound in Obstetrics & Gynecology, 20, 82–85.
Castiglia, D., Castori, M., Pisaneschi, E., et al. (2009). Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis. Clinical Genetics, 76, 392–397.
Eckert, R. L., Sturniolo, M. T., Broome, A.-M., et al. (2005). Transglutaminase function in epidermis. The Journal of Investigative Dermatology, 124, 481–492.
Farasat, S., Wei, M.-H., Herman, M., et al. (2009). Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. Journal of Medical Genetics, 46, 103–111.
Harvey, H. B., Shaw, M. G., & Morrell, D. S. (2010). Perinatal management of harlequin ichthyosis: A case report and literature review. Journal of Perinatology, 30, 66–72.
Herman, M. L., Farasat, S., Steinbach, P. J., et al. (2009). Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: Summary of mutations (including 23 novel) and modeling of TGase-1. Human Mutation, 30, 537–547.
Kelsell, D. P., Norgett, E. E., Unsworth, H., et al. (2005). Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. American Journal of Human Genetics, 76, 794–803.
Kudla, M. J., & Timmerman, D. (2010). Prenatal diagnosis of harlequin ichthyosis using 3- and 4-dimensional sonography. Journal of Ultrasound in Medicine, 29, 317–319.
Lefévre, C., Audebert, S., Jobard, F., et al. (2003). Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Human Molecular Genetics, 12, 2369–2378.
Nemes, Z., Marekov, L. N., Fesus, L., et al. (1999). A novel function for transglutaminase 1: Attachment of long-chain omega-hydroxyceramides to involucrin by ester bond formation. Proceedings of the National Academy of Sciences of the United States of America, 96, 8402–8407.
Oji, V., Tadini, G., Akiyama, M., et al. (2010). Revised nomenclature and classification of inherited ichthyoses: Results of the first ichthyosis consensus conference in Soreze 2009. Journal of American Academy of Dermatology, 63, 607–641.
Ortega-Recalde, O., Morenoa, M. B., Vergara, J. I., et al. (2015). A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis. Clinical and Experimental Dermatology. [Epub ahead of print].
Prasad, R. S., Pejaver, R. K., Hassan, A., et al. (1994). Management and follow-up of harlequin siblings. British Journal of Dermatology, 130, 650–653.
Rajpopat, S., Moss, C., Mellerio, J., et al. (2011). Harlequin ichthyosis: A review of clinical and molecular findings in 45 cases. Archives of Dermatology, 147, 681–686.
Richard, G., & Bale, S. J. (2014). Autosomal recessive congenital ichthyosis. In R. A. Pagon, M. P. Adam, T. D. Bird, et al. (Eds.), GeneReviews®. Seattle: University of Washington [Internet].
Singh, S., Bhura, M., Maheshwari, A., et al. (2001). Successful treatment of harlequin ichthyosis with acitretin. International Journal of Dermatology, 40, 472–473.
Stewart, H., Smith, P. T., Gaunt, L., et al. (2001). De novo deletion of chromosome 18q in a baby with harlequin ichthyosis. American Journal of Medical Genetics, 102, 342–345.
Yanagi, T., Akiyama, M., Sakai, K., et al. (2008). DNA-based prenatal exclusion of harlequin ichthyosis. Journal of the American Academy of Dermatology, 58, 653–656.
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Chen, H. (2017). Harlequin Ichthyosis. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_113
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DOI: https://doi.org/10.1007/978-1-4939-2401-1_113
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