Hereditary osteodysplasia with acro-osteolysis. (The Hajdu-Cheney syndrome).
A mother and son with acro-osteolysis (Hajdu-Cheney syndrome) are described. In addition to osteolysis of the distal phalanges, these patients have a generalized osseous dysplasia with osteoporosis, premature loss of teeth, short stature and a distinctive facial appearance. In one of the cases an enlarged sella turcica was associated with no abnormality of endocrine function. A biopsy specimen taken from an area of active osteolysis in a phalanx was studied by light and electron microscopy. There was active replacement of central medullary bone by a fibrous and angiomatous process characterized by the presence of small, thick-walled vessels and an unusual number of interspersed nerve fibers and mast cells. A neurovascular dysfunction with local release of osteolytic mediators may be involved in the pathogenesis of the disorder, but the nature of the osteolytic factor is unknown.
D000293:Adolescent; D000328:Adult; D001862:Bone Resorption / Q000235:genetics*; D001842:Bone and Bones / Q000473:pathology; D002648:Child; D005260:Female; D005385:Fingers; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D010014:Osteolysis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging; D013577:Syndrome