Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby.

Pediatric dermatology 2016 Mar-Apr

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Collodion babies are born with a tight, shiny cast that sheds in a few weeks. After shedding, most patients will display features of autosomal recessive congenital ichthyosis (ARCI) later in life but in up to 10% of cases, the skin eventually becomes normal or only minimally involved, a phenotype called self-healing collodion baby (SHCB), which is considered as ARCI subtype in the 2010 consensus classification of congenital ichthyosis. The term self-improving collodion ichthyosis (SICI) has been proposed for these patients. SHCB/SICI was initially associated with mutations in the gene TGM1. However, some cases showing ALOX12B and ALOXE3 gene mutations have also been reported. We report two cases of SHCB/SICI showing homozygous mutations in the gene CYP4F22. © 2015 Wiley Periodicals, Inc.

Citation

Lucero Noguera-Morel, Marta Feito-Rodríguez, Paola Maldonado-Cid, Sixto García-Miñáur, Erik-Jan Kamsteeg, Rogelio González-Sarmiento, Raúl De Lucas-Laguna, Angela Hernández-Martín, Antonio Torrelo. Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby. Pediatric dermatology. 2016 Mar-Apr;33(2):e48-51