Pycnodysostosis with recurrent long bone fractures

Naba Pallab Chetia, Aswin Deepak Rajan, Himashis Medhi


Pycnodysostosis is a rare autosomal recessive sclerosing bone disorder characterized by generalized diffuse osteosclerosis. Patients usually have a large head with separated sutures, open fontanels, aplasia of frontal sinuses, obtuse mandibular gonial angle and acroosteolysis of distal phalanges and multiple long bone fractures. We report this case of a 30-year-old female with repeated multiple long bone fractures and other clinico-radiological pathognomonic features of pycnodysostosis.


Pycnodysostosis, Pathological fractures, Proximal femoral nail

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Schiller SM. Hyperostosis, fibrous dysplasia and other dysplasia of bones and cartilage. In Fauci EBAS, Harrison’s Principles of Internal Medicine. McGraw-Hill; 1998: 2269–2275.

Motyckova G, Fisher DE. Pycnodysostosis: Role and regulation of cathepsin K in Osteoclast function and human disease. Curr Mol Med. 2002;2:407-21.

Nirupama C Sarasakavitha D, Palanivelu S, Guhan B. Pyknodyostosis:A case report or rare entity. J Indian Acad Oral Med Radiol. 2013;1:161-3.

Elmore SM. Pycnodysostosis: a review. J Bone Joint Surg. 1967;49:153-62.

Fleming K, Barest G, Sakai O. Dental and facial bone abnormalities in pyknodysostosis. AJNR Am J Neuroradiol . 2007;28:132-4.

Kamat S, Sankar K, Eswari NJ, Gahlawat V, Jude BN, Negi A. Management of chronic suppurative osteomyelitis in a patient with pycnodysostosis by intra-lesional antibiotic therapy. J Nat Sci Biol Med. 2015;6:464-7.

Hunt NP, Cunningham SJ, Adnan N, Harris M. The dental, craniofacial, and biochemical features of pyknodysostosis: a report of three new cases. J Oral Maxillofac Surg.1998;56:497-504.

Schmitz JP, Gassmann CJ, Bauer AM, Smith BR. Mandibular reconstruction in a patient with pyknodysostosis. J Oral Maxillofac Surg.1996;54:513-7.

Alves Pereira D, Berini Aytés L, Gay Escoda C. Pycnodysostosis. A report of 3 clinical cases. Med Oral Patol Oral Cir Bucal. 2008;13E:633–5.

Landa S, Esteban S, Montes E, Santamaria J, Vitoria A, Santolaya JM. Maxillofacial alterations in a family with pycnodysostosis. Med Oral. 2000;5:169-76.

Maroteaux P, Lamy M. Pyknodysostosis. Presse Med. 1962;70:999-1002.

Mujawar Q, Naganoor R, Patil H, Thobbi AN, Ukkali S, Malagi N. Pyknodysostosis with unusual findings: a case report. Cases J. 2009;2:6544.

Turan S. Current research on pycnodysostosis. Intractable Rare Dis Res. 2014;3:91.