Acral speckled hypomelanosis: a novel dermatosis

ever, its long-term safety and curative effect should be monitored by follow-up study, and a larger case–control study is needed. In addition, this type of read-through therapy can only be used for patients with nonsense mutations, and even though > 90% of the reported patients with NPPK carry the nonsense mutation c.796C>T, other rare mutations do exist, suggesting the importance of genetic testing to allow precise therapy.