Abstract
Heritable skin diseases comprise a group of disorders with highly variable phenotypic presentations and candidate genes. Pathogenic mutations in as many as 500 different genes have been identified that explain the cutaneous manifestations (Uitto, 2012a). Many of these diseases are rare, defined in the United States by <200,000 individuals with the same diagnosis; the definition of a rare disease in the European Union is <5 patients per 10,000 population; the Japanese definition is fewer than 50,000 patients; no official definition has been established in China as yet. Although individually these diseases are rare, there are close to 7,000 rare diseases, and thus the total number of individuals affected by rare diseases in the United States amounts to ~26 million people; by the same definition, there are as many as 150 million people in China affected by rare diseases (Francis Collins, personal communication, cited in reference Gaestel, 2012).
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