1+2/2010 - Společnost pro pojivové tkáně

RTG snímky z archivu Ambulantního centra pro vady pohybového aparátu s.r.o., Olšanská 7, Praha 3There are over 50 congenital and acquireddisorders characterized by osteolysis.In half of these conditions, osteolysis islimited exclusively or predominantly to thehands and feet(acroosteolysis). Althoughthere are several bone dysplasias with acroosteolysis,in none of them is this a signof such diagnostic significance as in theHajdu-Cheney syndrome acroosteolysis)is associated with skin ulcerations. Someilldefined acroosteolytic syndromes mayshow similar phalangeal changes, but usuallywithout wide lambdoid suture andmultiple Wormian bones. The pattern andseverity of bone involvement varies fromthat of HCS.GeneticsHajdu-Cheney syndrome is a rare autosomaldominant condition with approximately50 cases published to date. Thechromosomal location and molecular basisof HCS is unknown.These ill-defined disordersmay be the effect of partial penetrationof the HCS gene or result of modifyinggenes. Until the molecular pathology ofHCS is known, the correlation of thesepoorly differentiated acroosteolytic disordersto HCS is likely to remain unknown.Differential diagnosisConfusion with diseases with multipleWormian bones, such as osteogenesisPOHYBOVÉ ÚSTROJÍ, ročník 17, 2010, č. 1+2 11