Chronic idiopathic hyperphosphatasia with unusual dental findings - A case report

Chronic idiopathic hyperphosphatasia(CIH) or juvenile Paget disease is believed to be a distinct disease characterized by an increase in the serum alkaline phosphatase, cortical thickening and bowing of the long bones, especially the femora. It is a rare autosomal recessive bone disorder, with excessive bone resorption and bone formation. Skeletal malformations in the legs may cause problems in walking and may eventually result in short stature. The radiographic appearances include widening of the diaphyses, vertebral osteoporosis, acetabular protrusion, and thickening of the skull vault. Intensive bisphosphonate treatment prevented the development of deformity and disability but there is no published data on long-term efficacy. Bisphosphonate therapy showed suppression of bone turnover, doubling of trabecular thickness with no mineralization defect, and no osteopetrosis. We report a female of 21 years, a case of chronic idiopathic hyperphosphatasia congenital form, with a history of fracture, short stature and malformed teeth. She had a waddling gait, bone deformities, kyphoscoliosis and curvature of her limbs. Key words:Hyperphosphatasia, autosomal recessive, alkaline phosphatase, short stature, cortical thickening, enamel hypoplasia.