Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean

J Dermatol Sci. 2013 Nov;72(2):193-5. doi: 10.1016/j.jdermsci.2013.06.008. Epub 2013 Jun 28.

Authors

Kazumitsu Sugiura¹, Takuya Takeichi, Kana Tanahashi, Yasutomo Ito, Tomoki Kosho, Ken Saida, Hisashi Uhara, Ryuhei Okuyama, Masashi Akiyama

Affiliation

¹ Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.

PMID: 23871423
DOI: 10.1016/j.jdermsci.2013.06.008

No abstract available

Keywords: CYP4F22; Collodion baby; Compound heterozygous mutations; Japanese; Lamellar ichthyosis; Outside Mediterranean.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Asian People
Cytochrome P-450 Enzyme System / genetics*
Cytochrome P-450 Enzyme System / physiology*
Female
Genotype
Heterozygote
Humans
Ichthyosis, Lamellar / ethnology
Ichthyosis, Lamellar / genetics*
Infant
Infant, Newborn
Infant, Newborn, Diseases / ethnology
Infant, Newborn, Diseases / genetics*
Japan
Mutation, Missense
Phenotype
Sequence Analysis, DNA
Skin / pathology*

Substances

Cytochrome P-450 Enzyme System
CYP4F22 protein, human