Dominant Inheritance of the Complex of Myxomas, Spotty Pigmentation, and Endocrine Overactivity

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We describe a family in which lentigines were present in the index patient, in three of her seven siblings, in their mother, and in a niece (the daughter of an affected sister). Cutaneous myxomas were present in the index patient, in two of her brothers, and probably in their mother. In addition, the index patient had two cardiac myxomas, multiple myxoid mammary fibroadenomas, and the Cushing syndrome, and an affected brother had acromegaly caused by a growth hormone-secreting tumor of the pituitary gland. Thus, at least one manifestation of the complex of myxomas, spotty pigmentation, and endocrine overactivity has occurred in three successive generations of this family. Both male and female family members were affected, and 5 of the 11 children of affected persons had the disorder. The karyotypes of two affected persons were normal. These observations are consistent with mendelian dominant inheritance of the syndrome.

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INVESTIGATION OF THE FAMILY

The index patient, her father, and her maternal grandmother had been examined at our institution. Six of her seven siblings and all six nephews and nieces were examined in Kansas City. The investigation included a thorough physical examination with anthropometry and study of the skin in natural and ultraviolet light. In each case, a chest roentgenogram and a two-dimensional echo cardiogram were obtained. Each person older than 6 years of age had a complete blood cell count, automated serum

Case 1.

The index patient (III.3), a 34-year-old woman, had come to our medical center in 1984 because of persistent headaches. She had had pigmented spots on her face and lips since birth. At age 14 years, she had undergone removal of a lesion from her right upper eyelid; microscopically, it was a “papilloma having a core of fibrovascular tissue.” Recurrence of the eyelid lesion 3 years later necessitated another excision. At age 16 years, she had had pigmented lesions excised from her cheeks, upper

DISCUSSION

In this family, lentigines were present in the index patient, in three of her seven siblings, in their mother, and in a niece (the daughter of an affected sister). Cutaneous myxomas were present in the index patient, in two of her brothers, and probably in their mother. In addition, the index patient had two cardiac myxomas, multiple myxoid mammary fibroadenomas, and the Cushing syndrome, and an affected brother had acromegaly caused by a growth hormone-secreting tumor of the pituitary gland.

ACKNOWLEDGMENT

We thank the following colleagues who provided clinical information, echocardiograms, or histologic slides for the study: J. L. Booth, L. R. Christie, J. D. Lott, G. A. Oliver, C. Siqueira, A. Starr, and G. Starr.

REFERENCES (11)

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Department of Cardiology, St. Luke's Hospital, Kansas City, Missouri.

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