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Título: | Two cases of autosomal recessive congenital ichthyosis due to CYP4F22 mutations: Expanding the genotype of self-healing collodion baby |
Autor: | Noguera-Morel, Lucero; Feito-Rodríguez, Marta; Maldonado-Cid, Paola; García-Miñaur, Sixto; Kamsteeg, Erik-Jan; González-Sarmiento, Rogelio CSIC ORCID ; De Lucas-Laguna, Raúl; Hernández-Martín, Angela; Torrelo, Antonio | Fecha de publicación: | 2016 | Editor: | Wiley-Liss | Citación: | Pediatric Dermatology 33(2): e48-e51 (2016) | Resumen: | 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. | URI: | http://hdl.handle.net/10261/168770 | DOI: | 10.1111/pde.12740 | Identificadores: | doi: 10.1111/pde.12740 e-issn: 1525-1470 issn: 0736-8046 |
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