Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease

Mutations in POGLUT1 in Galli–Galli/Dowling–Degos disease

DEAR EDITOR, The group of reticulate pigmentary disorders includes the rare autosomal dominant Dowling–Degos disease (DDD) and Galli–Galli disease (GGD; OMIM 179850, 615327 and 615696). 1 In light of substantial clinical, histological and mutational overlap between GGD and DDD, they are considered to belong to the same entity. 2,3 Mutations in KRT5 (encoding keratin 5) have been associated with...

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].

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...

PSENEN mutations underlie Dowling-Degos disease associated with acne inversa