It occurs mainly in Japan and Korea at a frequency of about 1.5 × 10−5 as a dominant, harmless pea-size hyper and hypopigmented spots on the upper side of the hands and feet or other parts of the body (see Fig. D113). It is caused by mutation in adenosine deaminase. adenosine deaminase deficiency, LEOPARD syndrome, xeroderma pigmentosum; Miyamura Y et al 2003 Am J Hum Genet 73:693; photo courtesy of the March of Dimes Foundation.
