Das Subjekt der Normalität

A new nonsense mutation in the POGLUT1 gene in two sisters with Dowling–Degos disease

“…4 Loss-of-function mutations in POFUT1, encoding fucosyltransferase 1, were identified in cases of DD showing overlap with Kitamura disease, 5 and finally, mutations in PSENEN (presenilin enhancer gamma-secretase subunit) were found in DD associated with acne inversa or hidradenitis suppurativa. 6 We report the case of a 57-year-old woman with no medical history visiting her dermatologist for a chronic itching dermatosis. The disorder started 13 years ago with itchy papules located on both thighs and progressively extended to the legs, trunk and arms.…”