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Mohammadian H, Nateghi M R. An Overview of Harlequin Ichthyosis. SJMR 2025; 10 (4) : 3
URL: http://saremjrm.com/article-1-381-en.html
URL: http://saremjrm.com/article-1-381-en.html
1- Sarem Gynecology, Obstetrics and Infertility Research Center, Sarem Women’s Hospital, Iran University of Medical Sciences, Tehran, Iran.
2- Sarem Gynecology, Obstetrics and Infertility Research Center, Sarem Women’s Hospital, Iran University of Medical Science (IUMS), Tehran, Iran. & Sarem Cell Research Center (SCRC), Sarem Women’s Hospital, Tehran, Iran.
2- Sarem Gynecology, Obstetrics and Infertility Research Center, Sarem Women’s Hospital, Iran University of Medical Science (IUMS), Tehran, Iran. & Sarem Cell Research Center (SCRC), Sarem Women’s Hospital, Tehran, Iran.
Abstract: (23 Views)
Harlequin Ichthyosis is a very rare and severe genetic disorder of the group of congenital keratinization disorders that is inherited as an autosomal recessive trait and is caused by a mutation in the ABCA12 gene. This mutation causes a defect in epidermal lipid transport and, as a result, disruption of the skin lipid barrier. Affected infants are born with very thick, cracked skin and armor-like horny plates, with ectropion, eclampsia and limited limb movement, and are at high risk of dehydration, infection and temperature disorders due to damage to the skin barrier. The diagnosis of the disease is mainly clinical and is confirmed by genetic studies to identify ABCA12 mutations. In carrier families, prenatal diagnosis is possible with amniocentesis or placental villi sampling. Supportive care in the neonatal intensive care unit (NICU), including fluid balance, infection prevention, use of emollients, and systemic retinoid therapy, has improved survival and quality of life.
Despite the lack of a definitive cure, recent advances in molecular genetics and neonatal care have provided new hope for these patients. A detailed understanding of the relationship between genotype and phenotype will pave the way for the development of targeted and gene-based therapies in the future
Despite the lack of a definitive cure, recent advances in molecular genetics and neonatal care have provided new hope for these patients. A detailed understanding of the relationship between genotype and phenotype will pave the way for the development of targeted and gene-based therapies in the future
Article number: 3
Keywords: Harlequin Ichthyosis, ABCA gene, Autosomal Recessive Congenital Ichthyosis – (ARCI (, Systemic Retinoids, Skin Barrier, Genetic Mutation, Prenatal Diagnosis.
Article Type: Systematical Review |
Subject:
Skin diseases and disorders
Received: 2025/12/9 | Accepted: 2026/02/7 | Published: 2026/02/10
Received: 2025/12/9 | Accepted: 2026/02/7 | Published: 2026/02/10
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