Dowling-Degos Disease (DDD)

Dowling-Degos Disease, also known as reticular pigment anomaly of flexures, is related to reticulate acropigmentation of kitamura and anal canal squamous cell carcinoma. An important gene associated with Dowling-Degos Disease is POFUT1 (Protein O-Fucosyltransferase 1), and among its related pathways/superpathways are Signal Transduction and O-linked glycosylation of mucins. Affiliated tissues include skin and liver, and related phenotypes are progressive reticulate hyperpigmentation and hyperkeratosis