遺伝子解析より眼皮膚白皮症4型と考えられた1例

小島 知子; 馬渕 智生; 梅澤 慶紀; 松山 孝; 小澤 明; 近藤 泰輔; 河野 通浩; 富田 靖; 鈴木 民夫

doi:10.14924/dermatol.121.157

Original Articles

A Case of Oculocutaneous Albinism Type 4 (OCA4)

Tomoko Kojima, Tomotaka Mabuchi, Yoshinori Umezawa, Takashi Matsuyama, Akira Ozawa, Taisuke Kondo, Michihiro Kono, Yasushi Tomita, Tamio Suzuki

Author information

Tomoko Kojima
Department of Dermatology, Tokai University School of Medicine
Tomotaka Mabuchi
Department of Dermatology, Tokai University School of Medicine
Yoshinori Umezawa
Department of Dermatology, Tokai University School of Medicine
Takashi Matsuyama
Department of Dermatology, Tokai University School of Medicine
Akira Ozawa
Department of Dermatology, Tokai University School of Medicine
Taisuke Kondo
Department of Dermatology, Nagoya University School of Medicine
Michihiro Kono
Department of Dermatology, Nagoya University School of Medicine
Yasushi Tomita
Department of Dermatology, Nagoya University School of Medicine
Tamio Suzuki
Department of Dermatology, Yamagata University School of Medicine

Keywords: OCA, genetic analysis, SLC45A2

JOURNAL RESTRICTED ACCESS

2011 Volume 121 Issue 2 Pages 157-159

DOI https://doi.org/10.14924/dermatol.121.157

Details

Abstract

A 20-month-old Japanese girl presented with blond hair, brown irises, white skin, and no Mongolian spots. Genetic analysis for albinism-related genes detected heterozygosity for p. V507L, a known pathogenic mutation in SLC45A2, a causative gene for type 4 oculocutaneous albinism. Based on the absence of other albinismrelated gene mutations, type 4 oculocutaneous albinism was diagnosed. During the clinical follow-up, pigmentation was noted in the hair and skin at 3 years of age. No ocular symptoms have been identified.

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