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.292delC(p.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.
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http://dx.doi.org/10.1111/ajd.13316 | DOI Listing |
Br J Dermatol
October 2024
Department of Dermatology, Venereology and Allergology, University Medical Center Göttingen, Göttingen, Germany.
Int J Appl Basic Med Res
August 2024
Department of Microbiology, AIIMS, Rajkot, Gujarat, India.
Clin Dermatol
December 2024
DermSurgery Associates, Sugar Land, Texas, USA.
Clin Exp Dermatol
December 2024
Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Sector 12, Chandigarh, India.
Cureus
March 2024
Dermatology, Venereology, and Leprosy, Dr. D. Y. Patil Medical College, Hospital & Research Centre, Dr. D. Y. Patil Vidyapeeth, Pune (Deemed to be University), Pune, IND.
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