87 citations
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March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
May 2024 in “Indian Journal of Dermatology” The woman has a rare skin condition called follicular Dowling-Degos disease, which has limited treatment options.
29 citations
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June 2020 in “International Journal of Molecular Sciences” Notch signaling disruptions can cause various skin diseases.
May 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Nicastrin deficiency may cause skin cell damage and pigmentation disorders in humans, similar to effects seen in fish.
29 citations
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March 2019 in “British Journal of Dermatology” Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.