First-genetic analysis of atypical phenotype of pseudoxanthoma elasticum with ocular manifestations in the absence of characteristic skin lesions

J Eur Acad Dermatol Venereol. 2018 Apr;32(4):e147-e149. doi: 10.1111/jdv.14637. Epub 2017 Oct 30.

Authors

T Fukumoto¹, A Iwanaga², A Fukunaga¹, M Wataya-Kaneda³, Y Koike², C Nishigori¹, A Utani²

Affiliations

¹ Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.
² Department of Dermatology, Nagasaki University Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, 852-8523, Nagasaki, Japan.
³ Department of Dermatology, Course of Integrated Medicine, Graduate School of Medicine, Osaka University, 2-2 Yamadaoka, Suita, 565-0871, Osaka, Japan.

PMID: 29024031
DOI: 10.1111/jdv.14637

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Aged
Eye / diagnostic imaging
Eye / pathology*
Female
Fundus Oculi
Heterozygote
Humans
Male
Multidrug Resistance-Associated Proteins / genetics
Mutation
Phenotype*
Pseudoxanthoma Elasticum / genetics*
Pseudoxanthoma Elasticum / pathology

Substances

ABCC6 protein, human
Multidrug Resistance-Associated Proteins