Diagnosis of pseudoxanthoma elasticum in a 4-year-old boy

J Dermatol. 2018 Feb;45(2):244-246. doi: 10.1111/1346-8138.13805. Epub 2017 Mar 22.

Authors

Nobuki Maki^{1

2}, Mayumi Komine¹, Hidetoshi Tsuda¹, Yurika Fujita¹, Etsuko Fujita¹, Satoru Murata¹, Toshio Demitsu², Atsushi Utani³, Mamitaro Ohtsuki¹

Affiliations

¹ Department of Dermatology, Jichi Medical University, Tochigi, Japan.
² Department of Dermatology, Jichi Medical University Saitama Medical Center, Saitama, Japan.
³ Department of Dermatology, Nagasaki University, Nagasaki, Japan.

PMID: 28328114
DOI: 10.1111/1346-8138.13805

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Child, Preschool
DNA Mutational Analysis
Exons / genetics
Heterozygote
Humans
Male
Multidrug Resistance-Associated Proteins / genetics*
Mutation
Pseudoxanthoma Elasticum / diagnosis*
Pseudoxanthoma Elasticum / genetics
Pseudoxanthoma Elasticum / pathology
Skin / pathology
Torso

Substances

ABCC6 protein, human
Multidrug Resistance-Associated Proteins