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.
Category
Skin disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
Genetic and developmental disorders affecting the skin
EC23 Genetic disorders of skin pigmentation
H02665 Reticulate acropigmentation of Kitamura
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06535 Efferocytosis
H02665 Reticulate acropigmentation of Kitamura
Kono M, Sugiura K, Suganuma M, Hayashi M, Takama H, Suzuki T, Matsunaga K, Tomita Y, Akiyama M
Title
Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease.
