A unique clinical phenotype of a patient bearing a newly identified deletion mutation in the PSENEN gene along with the pathogenic serum desmoglein-1 antibody

Clin Exp Dermatol. 2018 Apr;43(3):329-332. doi: 10.1111/ced.13326. Epub 2018 Jan 4.

Authors

T Kan¹, S Takahagi¹, H Shindo¹, A Tanaka¹, M Kawai¹, M Hide¹

Affiliation

¹ Department of Dermatology, Institute of Biomedical and Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8551, Japan.

PMID: 29314153
DOI: 10.1111/ced.13326

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Abscess / genetics*
Amyloid Precursor Protein Secretases / genetics*
Autoantibodies / blood
Biopsy
Desmoglein 1 / immunology*
Female
Gene Deletion*
Humans
Male
Membrane Proteins / genetics*
Middle Aged
Pedigree
Phenotype
Skin / pathology*
Skin Diseases / genetics*
Skin Diseases / pathology

Substances

Autoantibodies
Desmoglein 1
Membrane Proteins
PSENEN protein, human
Amyloid Precursor Protein Secretases