A familial syndrome of cardiac myxomas, myxoid neurofibromata, cutaneous pigmented lesions, and endocrine abnormalities.
A family syndrome of cardiac myxomas, myxoid neurofibromata, cutaneous pigmented lesions, and endocrine abnormalities is described. Three cases from a family of four are presented. All had cutaneous pigmented lesions. The mother had left and right atrial myxomata, her daughter a left ventricular myxoma, subcutaneous myxoid neurofibromata, and mammary fibroadenosis, and her son has no evidence of cardiac myxoma. Elevated circulating levels of insulin-like growth factors in the one family member tested raises the possibility of abnormal stimulation of somatic growth and may be linked to development of soft tissue neoplasms in these patients.
Wilsher
M L
ML
Roche
A H
AH
Neutze
J M
JM
Synek
B J
BJ
Holdaway
I M
IM
Nicholson
G I
GI
D000293:Adolescent; D000328:Adult; D001941:Breast Diseases / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005799:Genes, Dominant; D006325:Heart Atria; D006338:Heart Neoplasms / Q000235:genetics*; D006801:Humans; D008297:Male; D008548:Melanosis / Q000235:genetics; D009232:Myxoma / Q000235:genetics*; D009455:Neurofibroma / Q000235:genetics*; D010859:Pigmentation Disorders / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics*; D012983:Soft Tissue Neoplasms / Q000235:genetics; D013002:Somatomedins / Q000032:analysis
D013002:Somatomedins