Periodontitis associated with Hajdu-Cheney syndrome.

BACKGROUND

Hajdu-Cheney syndrome (HCS) is an inheritable, rare disorder of bone metabolism, associated with acro-osteolysis of the distal phalanges, short stature, distinctive craniofacial and skull changes, premature tooth loss, and periodontitis. This report focuses on the periodontal manifestations of HCS.

METHODS

A 22-year-old female presented with the characteristic clinical features of HCS, including short stature, small face, prominent epicanthal folds, thin lips, small mouth, and short hands. There were no abnormal biochemical, hematological, or hormonal data. Tests for bone mineral density were indicative of osteoporosis. Cephalometric analysis revealed hypoplasia of the midface and increased cranial base angle; the maxilla and the mandible were set posteriorly. The sella turcica was enlarged, elongated, and wide open with slender clinoids. Hair samples were examined by scanning electron microscopy, and tooth cementum and dentin were evaluated histologically.

RESULTS

According to the periodontal evaluation, gingival inflammation was 12.5%, bleeding on probing score was 24%, probing depths averaged 4 to 6 mm, and clinical attachment loss averaged 3 to 6 mm. Class II furcations were found on three teeth. Almost all teeth exhibited pathological mobility of varying degrees. There was a generalized, horizontal bone loss of approximately 50%. Three teeth had to be extracted because of severe localized periodontal destruction. Histologic examination of the dentin and the cementum was normal.

CONCLUSIONS

HCS periodontitis is associated with an unpredictable and uneven, rapid rate of periodontal destruction of unknown etiology. Further research is required to identify the role of the possible pathogenic factors involved.