Comorbidities or different entities? Phenotype variability associated with PSENEN mutations

Br J Dermatol. 2019 Jan;180(1):221-222. doi: 10.1111/bjd.17111. Epub 2018 Oct 16.

Authors

W Li¹, H Xu^{1

2}, Y He^{1

2}, L Lin¹, C Li^{1

2}

Affiliations

¹ Department of Dermatology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China.
² Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing, Jiangsu, China.

PMID: 30144026
DOI: 10.1111/bjd.17111

No abstract available

MeSH terms

Amyloid Precursor Protein Secretases / genetics*
Comorbidity
Heterozygote
Hidradenitis Suppurativa / epidemiology
Hidradenitis Suppurativa / genetics*
Humans
Hyperpigmentation / epidemiology
Hyperpigmentation / genetics*
Membrane Proteins / genetics*
Mutation
Phenotype
Skin Abnormalities / epidemiology
Skin Abnormalities / genetics*
Skin Diseases, Genetic / epidemiology
Skin Diseases, Genetic / genetics*
Skin Diseases, Papulosquamous / epidemiology
Skin Diseases, Papulosquamous / genetics*

Substances

Membrane Proteins
PSENEN protein, human
Amyloid Precursor Protein Secretases

Supplementary concepts

Comedones, Familial Dyskeratotic
Dowling-Degos Disease