Familial endocrine myxolentiginosis

We present an unusual case of a left atrial myxoma as a feature of a familial mesoectodermal disorder and review the literature. The new term familial endocrine myxolentiginosis is proposed, which is descriptive of the major clinical components of the syndrome. Myriad features of this disorder include (1) cardiac myxomas ; (2) cutaneous myxomas; (3) multiple lentigines or blue nevi, particularly of the head and neck ; (4) bilateral primary pigmented nodular adrenocortical hyperplasia ; (5) unusual testicular tumors ; (6) pituitary tumors ; (7) myxoid fibroadenomas of the breast ; (8) myxomatous disorder of the stroma of the breast ; (9) ductal adenoma of the breast ; and (10) psammomatous melanotic schwannoma. A tentative diagnosis is suggested by identifying two features and a definitive diagnosis is made by three or more features. The clinical and pathologic features of cardiac myxoma in familial endocrine myxolentiginosis are identical to those of familial cardiac myxoma : age < 40 years, atypical locations, multicentric origins, and recurrent presentations. A Venn diagram classification for cardiac myxomas is proposed. We include photographic, echocardiographic, biopsy, and adrenal computerized tomography documentation in our patient. Recognition of this disorder is important because of its clinical, surgical, and genetic implications. The availability of transesophageal echocardiographic technology should allow early diagnosis of this underdiagnosed entity. Clinicians should consider this entity in the differential diagnosis of their patients with any one of these manifestations.