DNA-based prenatal exclusion of bullous congenital ichthyosiform erythroderma at the early stage, 10 to 11 weeks' of pregnancy, in two consequent siblings

Yukiko Tsuji-Abe; Masashi Akiyama; Hideki Nakamura; Yasuko Takizawa; Daisuke Sawamura; Kayoko Matsunaga; Kaoru Suzumori; Hiroshi Shimizu

doi:10.1016/j.jaad.2004.06.020

DNA-based prenatal exclusion of bullous congenital ichthyosiform erythroderma at the early stage, 10 to 11 weeks' of pregnancy, in two consequent siblings

J Am Acad Dermatol. 2004 Dec;51(6):1008-11. doi: 10.1016/j.jaad.2004.06.020.

Authors

Yukiko Tsuji-Abe¹, Masashi Akiyama, Hideki Nakamura, Yasuko Takizawa, Daisuke Sawamura, Kayoko Matsunaga, Kaoru Suzumori, Hiroshi Shimizu

Affiliation

¹ Department of Dermatology at Hokkaido University Graduate School of Medicine, Sapporo, Japan.

PMID: 15583602
DOI: 10.1016/j.jaad.2004.06.020

Abstract

The proband was a Japanese woman with bullous congenital ichthyosiform erythroderma harboring a keratin 10 gene mutation M150T. DNA-based prenatal exclusion of bullous congenital ichthyosiform erythroderma was successfully performed in her two consequent pregnancies using chorionic villus samples at 10 to 11 weeks' gestation, several weeks earlier than the previously reported cases.

Publication types

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

MeSH terms

Adult
Chorionic Villi Sampling*
DNA Mutational Analysis
Female
Genetic Testing*
Humans
Hyperkeratosis, Epidermolytic / diagnosis*
Hyperkeratosis, Epidermolytic / genetics*
Keratin-10
Keratins / genetics
Mutation, Missense
Polymerase Chain Reaction
Pregnancy
Pregnancy Trimester, First
Siblings

Substances

KRT10 protein, human
Keratin-10
Keratins