Department of Dermatology, Hospital for Skin Diseases (Institute of Dermatology), Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu 210042, China.
摘要 Dowling-Degos disease (DDD), as a rare genetic pigment disorder, also called Reticulate pigmented anomaly of the flexures (RPAF), is characterized by reticulate pigmentation at ?exural sites. Mutations in KRT5, POFUT1, and POGLUT1 are established to be involved in this disease. The pathogenesis of NOTCH signaling pathways related remains an unsolved problem. Recent years, evidences have witnessed that PSENEN mutation carriers may be caught in DDD. PSENEN mutation has already been verified to be responsible for acne inversa. And the amount of coexistence between DDD and acne inversa caused by PSENEN mutation is constantly increasing, which arouses attention. The hypotheses for the coexistence between Dowling-Degos disease and acne inversa, such as a defect of the epithelial proliferation in the external sheath leading to its rupture and occlusion is the underlying common condition between DDD and acne inversa as well as a history of obesity or nicotine use could an increased susceptibility to comorbid acne inversa, are completely distinct and pretty fascinating. In addition, related clinical data was profusely explored and a concluded correlation between genotype and phenotype was revealed. These findings towards gene mutations offer more backing for the idea that phenotypic variations in DDD are regularly linked to various mutations.
Introduction
Dowling-Degos disease (DDD) was first described as a benign form of acanthosis nigricans by Dowling and Freudenthal in 1938, then referred to as“dermatose reticulée des plis”by Degos and Ossipowski in 1954, and was first named DDD by Wilson-Jones and Grice in 1978[1]. The disease has been reported worldwide and affects both genders equally. As an autosomal dominant pigment disorder, it usually occurs in postpubertal individuals, and is seldom seen in children[2]. However, a Chinese newborn with DDD was reported in 2008[3]. In this review, we summarize features of DDD, emphasizing advances in genetics research and looking to the future for further understanding of its etiology and the development of therapeutic methods.
吴英达 李文锐 张婉璐 程萍 李诚让. Dowling-Degos disease: current research progress[J]. 国际皮肤性病学杂志, 2018, 1(4): 208-211.
Ying-DaWu,Wen-Rui Li,Wan-Lu Zhang, Ping Cheng, Cheng-Rang Li*. Dowling-Degos disease: current research progress. International Journal of Dermatology and Venereolo, 2018, 1(4): 208-211.
2018, Vol. 1 
