Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death

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Tsukahara et al. (1986) described 2 Japanese sisters with ataxia-telangiectasia that had typical clinical and laboratory features except for marked generalized skin pigmentation and unusually early death (at 15 months in the first born). Skin pigmentation was already present at 3 months of age in the first born and appeared at 7 months in the second affected child. Autopsy of the older child provided no obvious explanation for the hyperpigmentation. The anterior pituitary was described as containing 'occasional cells with large hyperchromic, bizarre or doughnut-shaped nuclei.'