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de la piel y el sistema inmunológico que comienza con una erupción cutánea irregular usualmente entre los 6 y los 12 meses, y que se disemina gradualmente de los brazos y piernas al torso y al rostro. Alrededor de los 2 años, la erupción desaparece, dejando en su lugar áreas de hiperpigmentación, hipopigmentación y telangiectasias, una combinación conocida como poiquilodermia. Otros síntomas incluyen queratodermia palmoplantar, calcinosis cutánea, úlceras de piel, paquioniquia, dientes frágiles y disminución de la densidad ósea. El trastorno cursa con neutropenia crónica que causa infecciones recurrentes de senos paranasales y neumonía, especialemente en los primeros años de vida. 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