Acro-osteolysis in Hajdu Cheney syndrome: A case report with review of literature

Abstract

Objectives: We present a case report and review the literature on Hajdu Cheney syndrome (HCS), an extremely rare connective tissue disorder with <100 cases reported in the last 72 years. We have emphasized on the patterns of acro-osteolysis (acrosteolysis) in the literature review to conclude if the syndrome follows any particular pattern like in our case. Material and Methods: All major databases were searched for all cases of HCS. One hundred and eighty-eight hand radiographs were analyzed and detailed analysis of all digits was carried out with emphasis on the pattern of acrosteolysis. Results: Acrosteolysis may not be a mandatory association in HCS as 18.8% did not have acrosteolysis at all. The first finger to be involved in 90/96 (93.7%) of the cases was the index finger, followed by the middle finger and then the thumb. The 4th digit (ring finger) was involved in only 11/96 (11.4%) of the cases, of which 9/11 (81.8%) were above the age of 25. Incidence of acrosteolysis of the 4th digit when in comparison to all other finger has a P < 0.05 and a P < 0.001 with the index finger. Newborn with HCS evaluated for acrosteolysis at birth was negative. Conclusion: There was statistical evidence to conclude that in a majority of the cases the 4th digit was involved the least. A rough timeline of the onset and progression of acrosteolysis was made. An attempt was made to shed light on the possible lesser-known manifestations of the syndrome such as retroflexed odontoid, Arnold Chiari I, middle phalanx osteolysis, and first carpometacarpal joint osteolysis. As very little is known about the disease and awareness about it is pertinent for early management and to differentiate it from other less-lethal causes of acrosteolysis.