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Lamellar ichthyosis is a sub-type of non-bullous congenital ichthyosis. It can also be classified as one of the non-syndromic autosomal recessive congenital ichthyosis (ARCI) clinical manifestations . Other ichthyoses within ARCI include congenital ichthyosiform erythroderma and harlequin ichthyosis. Many genes have been implicated in the pathogenesis of lamellar ichthyosis including ABCA12, ALOXE3, ALOX12B, CERS3, CYP4F22, NIPAL4/ICHTHYIN, PNPLA1, and TGM1 . The most common mutations include TGM1 and ABCA12. Lamellar ichthyosis is uncommon occurring in 1 in 200,000 to 1 in 300,000 live births worldwide; however, it is more common in certain populations .
- 2.Glick JB, Craiglow BG, Choate KA, Kato H, Fleming RE, Siegfried E, Glick SA. Improved management of harlequin ichthyosis with advances in neonatal intensive care. Pediatrics. 2017;139(1). pii: e20161003. https://doi.org/10.1542/peds.2016-1003. Epub 2016 Dec 20. Review. PMID: 27999114.CrossRefGoogle Scholar