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Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self‐Healing Collodion Baby
Author(s) -
NogueraMorel Lucero,
FeitoRodríguez Marta,
MaldonadoCid Paola,
GarcíaMiñáur Sixto,
Kamsteeg ErikJan,
GonzálezSarmiento Rogelio,
LucasLaguna Raúl,
HernándezMartín Angela,
Torrelo Antonio
Publication year - 2015
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12740
Subject(s) - collodion , congenital ichthyosis , ichthyosis , lamellar ichthyosis , medicine , dermatology , dyskeratosis , hyperkeratosis , genetics , biology , membrane
Abstract 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 .