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Scrotal Dowling–Degos disease caused by a novel frameshift variant in gamma‐secretase subunit presenile enhancer gene
Author(s) -
Ren Jun,
Zeng Liyue
Publication year - 2020
Publication title -
australasian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.67
H-Index - 53
eISSN - 1440-0960
pISSN - 0004-8380
DOI - 10.1111/ajd.13316
Subject(s) - frameshift mutation , medicine , enhancer , protein subunit , gene , genetics , microbiology and biotechnology , exon , biology , gene expression
We reported a Chinese pedigree with scrotal Dowling–Degos disease and evaluated the phenotypic and genotypic characteristics. In affected cases, pigmented macules were identified on the scrotum. The rashes increased, and the colour deepened progressively. No pain or pruritus were noticed, and no other skin folds were involved. Skin histopathology showed characteristic features of Dowling–Degos disease. A heterozygous PSENEN frameshift variant c.292delCp.L98Wfs*47 was identified in affected cases. The variant was not found in dbSNP, 1000 Genomes project database and the ExAC Browser. The p.L98 and adjacent amino acids are highly conserved among species. Our cases expand the phenotypic and genotypic spectrum of PSENEN ‐related Dowling–Degos disease.