Jaffe-Campanacci syndrome: case report and review of literature.
We report a 27-year-old Caucasian woman with Jaffe-Campanacci syndrome. She presented with multiple café-au-lait spots and multiple non-ossifying fibromata of the bones, noted on radiographs and proven by tissue biopsies. Only the left side was involved. She also suffered from moderate scoliosis, stenosis of the aortic isthmus, chylothorax, and a chylopericardium. The etiology is discussed.
Kotzot
D
D
Institute of Human Genetics, University of Erlangen-Nürnberg, Germany.
Stöss
H
H
Wagner
H
H
Ulmer
R
R
D000328:Adult; D001024:Aortic Valve Stenosis / Q000175:diagnosis*; D001706:Biopsy; D001859:Bone Neoplasms / Q000000981:diagnostic imaging / Q000473:pathology*; D002916:Chylothorax / Q000175:diagnosis*; D005260:Female; D005350:Fibroma / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D008297:Male; D010490:Pericardial Effusion / Q000175:diagnosis*; D011859:Radiography; D012600:Scoliosis / Q000000981:diagnostic imaging*; D012871:Skin Diseases / Q000473:pathology*; D013577:Syndrome