Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis

J Dermatol Sci. 2016 Sep;83(3):240-2. doi: 10.1016/j.jdermsci.2016.06.005. Epub 2016 Jun 7.

Authors

Daiki Rokunohe¹, Hajime Nakano², Eijiro Akasaka¹, Yuka Toyomaki¹, Daisuke Sawamura¹

Affiliations

¹ Department of Dermatology, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki 036-8562, Japan.
² Department of Dermatology, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki 036-8562, Japan. Electronic address: hnakano@hirosaki-u.ac.jp.

PMID: 27342041
DOI: 10.1016/j.jdermsci.2016.06.005

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Biopsy
CREB-Binding Protein / genetics*
Child
DNA Mutational Analysis*
Female
Genetic Predisposition to Disease
Hair Diseases / genetics*
Humans
Mutation*
Phenotype
Pilomatrixoma / genetics*
Predictive Value of Tests
Rubinstein-Taybi Syndrome / diagnosis
Rubinstein-Taybi Syndrome / genetics*
Skin Neoplasms / genetics*

Substances

CREB-Binding Protein
CREBBP protein, human