Pycnodysostosis: Clinical, radiologic, and endocrine evaluation and linear growth after growth hormone therapy

Current research on pycnodysostosis

“…Recently, growth hormone therapy has resulted in a significant improvement in height velocity and final height in pycnodysostosis (19,20 have low IGF-1 levels, and administration of growth hormone results in a satisfactory elevation in IGF-1 (21,22). Patients with a growth hormone deficiency also have pituitary hypoplasia, but no abnormalities in other pituitary hormones and pubertal development have been detected (21). Pycnodysostosis is a rare clinically distinct entity with a number of different clinical signs and is usually under-diagnosed.…”

Accordion Maneuver with Modified Ilizarov Frame for treatment of recalcitrant nonunion of shaft of femur in a patient with Pycnodysostosis

“…3 There is osteoclastic dysfunction and few workers have studied the condition extensively in recent times. [4][5][6] We diagnosed the patient to suffer from Pycnodysostosis based on the clinical and radiological findings. The probable cause of failures of the previous operations could be inadequate stability provided by the implants and may have been contributed by the disease (though we cannot be certain as previous X-rays were not available).…”

Osteomyelitis in Pycnodysostosis – Report of 2 Clinical Cases

“…This anomaly consists of 12 different mutations [4,5] that produce mutational changes in a lysosomal cystine protease, cathepsin K, the expression of which is reduced in the osteoclasts of these patients [4][5][6][7]. This protease is responsible for degrading collagen type 1, that constitutes 95% of the organic bone matrix.…”