Recurrent p.N767S mutation in the ATP2A2 gene in a Japanese family with haemorrhagic Darier disease clinically mimicking epidermolysis bullosa simplex with mottled pigmentation

Br J Dermatol. 2007 Sep;157(3):605-8. doi: 10.1111/j.1365-2133.2007.08086.x. Epub 2007 Jul 16.

Authors

T Hamada¹, S Yasumoto, T Karashima, N Ishii, H Shimada, Y Kawano, S Imayama, J A McGrath, T Hashimoto

Affiliation

¹ Department of Dermatology, Kurume University School of Medicine, 67 Asahimachi, Kurume 830-0011, Japan. hamataka@med.kurume-u.ac.jp

PMID: 17635506
DOI: 10.1111/j.1365-2133.2007.08086.x

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Darier Disease / diagnosis
Darier Disease / genetics*
Darier Disease / pathology
Diagnosis, Differential
Epidermolysis Bullosa Simplex / diagnosis
Epidermolysis Bullosa Simplex / genetics*
Female
Humans
Keratin-14 / genetics*
Pedigree
Pigmentation Disorders / diagnosis
Pigmentation Disorders / genetics*
Pigmentation Disorders / pathology
Treatment Outcome

Substances

Keratin-14