This report describes the first familial case of Carney's complex with primary pigmented nodular adrenocortical disease and spotty pigmentations in Japan.
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Supports recognition of familial Carney complex in Japan; hypothesis-generating and requires confirmation in larger cohorts.
Carney's complex is composed of myxoma, spotty pigmentation and endocrine overactivity. A 27-year-old male was diagnosed to have Carney's complex on the basis of intense spotty pigmentations on his face, soles and palms, and bilateral adrenal nodular hyperplasia on computed tomography scanning (CT) and magnetic resonance imaging (MRI). Total bilateral adrenectomy was done; histological findings were compatible with primary pigmented adrenocortical disease (PPNAD). Recently, his sister and one of his brothers were suspected to have Carney's complex with PPNAD. We report the first familial case of Carney's complex with PPNAD and spotty pigmentations in Japan.
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Ohara et al. (1993) studied this question.
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