PSENEN mutation in a Chinese family manifesting as concurrent hidradenitis suppurativa and Dowling-Degos disease: a case report of four generations
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DOI: 10.3389/fmed.2025.1542909
Abstract: Hidradenitis suppurativa and Dowling-Degos disease are two independent rare diseases with characteristic clinical manifestations. The PSENEN gene encodes a critical subunit of the γ-secretase complex, mutations of which can independently or concurrently lead to hidradenitis… read more here.
Keywords: dowling degos; suppurativa dowling; hidradenitis suppurativa; degos disease ... See more keywords