PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) and Dowling-Degos Disease (DDD): Is AI or DDD the Subphenotype?

PSENEN mutations underlie Dowling-Degos disease associated with acne inversa

Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.

Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associated with mutations in keratin 5 (KRT5), protein O-fucosyltransferase 1 (POFUT1), or protein O-glucosyltransferase 1 (POGLUT1). Here, we have identified 6 heterozygous truncating mutations in PSENEN, encoding presenilin enhancer protein 2, in 6 unrelated patients and families with DDD in whom mutations in K...

Dowling-Degos disease.

Dowling-Degos disease (DDD) is a rare autosomal dominant inherited pigmentary disorder of the flexures with a reticulate aspect and with presence of prominent comedone-like lesions and pitted scars. The diagnosis includes acanthosis nigricans as well as other reticulate pigmentary disorders classified into: dyschromatrosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditaria (DU...

[Dowling-Degos disease].

Degenerative Disc disease (DDD)

If you have chronic back or neck pain, you may have degenerative disc disease. This degenerative spinal condition is not really a disease—it’s the normal wear and tear process of aging on your spine. Unfortunately, as we age, our intervertebral discs (pillow-like pads between the bones in your spine) lose their flexibility, elasticity, and shock absorbing characteristics. When this happens, the...