Reticulate acropigmentation of Kitamura (RAK) is a rare autosomal dominant disorder of cutaneous pigmentation. The typical clinical features are reticulate and sharply demarcated brown macules, affecting the dorsa of the hands and feet. Recently, mutations in ADAM10, encoding a zinc metalloprotease, were identified in patients with RAK.
Kono M, Sugiura K, Suganuma M, Hayashi M, Takama H, Suzuki T, Matsunaga K, Tomita Y, Akiyama M
タイトル
Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease.
