Mild case of congenital ichthyosiform erythroderma with periodic exacerbation: Novel mutations in ABCA12 and upregulation of calprotectin in the epidermis

J Dermatol. 2017 Nov;44(11):e282-e283. doi: 10.1111/1346-8138.13976. Epub 2017 Aug 3.

Authors

Yoshihiro Wada¹, Minori Kusakabe¹, Makoto Nagai¹, Masaaki Yamamoto¹, Yasutomo Imai¹, Yoshi-Hiro Ide², Seiichi Hirota², Kiyofumi Yamanishi¹

Affiliations

¹ Department of Dermatology, Hyogo College of Medicine, Nishinomiya, Japan.
² Department of Surgical Pathology, Hyogo College of Medicine, Nishinomiya, Japan.

PMID: 28771802
DOI: 10.1111/1346-8138.13976

No abstract available

Publication types

Case Reports
Letter

MeSH terms

ATP-Binding Cassette Transporters / genetics*
Child, Preschool
Epidermis / metabolism
Epidermis / ultrastructure
Female
Humans
Ichthyosiform Erythroderma, Congenital / genetics*
Ichthyosiform Erythroderma, Congenital / metabolism
Ichthyosiform Erythroderma, Congenital / pathology
Leukocyte L1 Antigen Complex / metabolism*

Substances

ABCA12 protein, human
ATP-Binding Cassette Transporters
Leukocyte L1 Antigen Complex