Somatic HRAS p.G12S mosaic mutation causes unilaterally distributed epidermal nevi, woolly hair and palmoplantar keratosis

J Dermatol. 2017 Jun;44(6):e109-e110. doi: 10.1111/1346-8138.13801. Epub 2017 Mar 11.

Authors

Aki Honda¹, Noriko Umegaki-Arao¹, Takashi Sasaki^{1

2}, Kazuhiko Nakabayashi³, Kenichiro Hata³, Yoichi Matsubara⁴, Akiko Tanikawa¹, Masayuki Amagai¹, Akiharu Kubo¹

Affiliations

¹ Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
² Center for Supercentenarian Research, Keio University School of Medicine, Tokyo, Japan.
³ Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
⁴ National Research Institute for Child Health and Development, Tokyo, Japan.

PMID: 28295558
DOI: 10.1111/1346-8138.13801

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adolescent
Biopsy
Costello Syndrome / genetics*
Costello Syndrome / pathology
DNA Mutational Analysis
Exome Sequencing
Female
Hair Diseases / genetics*
Heterozygote
Humans
Keratoderma, Palmoplantar / genetics*
Keratoderma, Palmoplantar / pathology
Mosaicism*
Mutation
Nevus / genetics*
Proto-Oncogene Proteins p21(ras) / genetics*
Skin / pathology

Substances

HRAS protein, human
Proto-Oncogene Proteins p21(ras)

Supplementary concepts

Epidermal Nevus