[Hajdu-Cheney Syndrome: a case of acroosteolysis].
Acroosteolysis is a rare clinical manifestation characterized by bone resorption of the terminal phalanges. It can occur in association with the variety of systemic diseases or be idiopathic. The authors describe a case of 47-year-old woman with acroosteolysis of distal phalanges since childhood, congenital amaurosis, premature loss of teeth and mal perforans. Because of the rate and exuberant manifestations found, with no etiological cause identified, the authors diagnosed Hajdu-Cheney Syndrome. Hajdu-Cheney is a rare, autosomal dominant disorder, with sporadic cases, apparently representing new mutations. Based on this case the authors review the differential diagnoses of acroosteolysis and the clinical manifestation of the Hajdu-Cheney syndrome
Cunha
I
I
Interna do Internato Complementar de Reumatologia do Servico de Reumatologia do Hosipitais da Universidade de Coimbra, Portugal. mariainescunha@gmail.com
Saavedra
M J
MJ
Oliveira
M Alexandre
MA
Salvador
M J
MJ
Malcata
A
A
D030981:Acro-Osteolysis / Q000175:diagnosis; D005260:Female; D031845:Hajdu-Cheney Syndrome / Q000175:diagnosis*; D006801:Humans; D008875:Middle Aged