Two cases with pycnodysostosis in a family: a case report

Authors

  • K. Venkataramana Reddy Department of Pediatrics, SVS Medical College, Mahabubnagar, Telangana, India
  • Chapay Soren Department of Pediatrics, SVS Medical College, Mahabubnagar, Telangana, India
  • M. Geethika Department of Radiodiagnosis, SVS Medical College, Mahabubnagar, Telangana, India
  • V. Malathi Department of Pediatrics, SVS Medical College, Mahabubnagar, Telangana, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20202164

Keywords:

Hypoplasia, Osteosclerosis, Paranasal sinuses, Pycnodysostosis, Short stature

Abstract

Pycnodysostosis (Greek, pycnos - density, dys - defect, ostosis - bone) is a rare inherited disorder of the bone, first described by Maroteaux and Lamy. Pycnodysostosis is an autosomal recessive disorder, with incidence estimated to be 1.7 per 1 million births. Clinical presentation of this disorder include short stature, dolichocephalic skull, frontal bossing, obtuse mandibular angle, dysplastic clavicles, and short hands and feet, diffuse osteosclerosis, acro-osteolysis along with the finger and nail abnormalities. The main oral aspects are midfacial hypoplasia, a grooved palate, and dental abnormalities include double row of teeth, delayed eruption of permanent dentition, multiple caries. Pathological fractures of the bones occur due to sclerosis. Radiologically, skull bones appear thickened with open fontanels which look like ‘lakes of bones’, hypoplasia of facial bones, generalized osteosclerosis, open fontanels and cranial sutures, non pneumotization of paranasal sinuses, and fractures commonly in lower limbs.

References

Alves Pereira D, Berini Aytés L, Gay Escoda C. Pycnodysostosis. A report of 3 clinical cases. Med Oral Patol Oral Cir Bucal. 2008 Oct 1;13(10):E633-5.

Mujawar Q, Naganoor R, Patil H, Thobbi AN, Ukkali S, Malagi N. Pycnodysostosis with unusual findings: a case report. Cases J. 2009 Jul 23;2:6544.

Rajan AR, Singh V, Bhave AA, Joshi CS. Pycnodysostosis: A rare cause of short stature. Med J Armed Forces India. 2015 Oct;71(4):393-5.

Aynaou H, Skiker I, Latrech H. Short stature Revealing a Pycnodysostosis: A Case Report. J Orthop Case Rep. 2016 Apr-Jun;6(2):43-5.

Khoja A, Fida M, Shaikh A. Pycnodysostosis with special emphasis on dentofacial characteristics. Case Rep Dentist. 2015;2015.

Nirupama C, Sarasakavitha D, Palanivelu S, Guhan B. Pyknodyostosis: A case report or rare entity. J Indian Acad Oral Med Radiol. 2013;25:161-3.

Xue Y, Cai T, Shi S, Wang W, Zhang Y, Mao T et al. Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011. Orphanet J Rare Dis. 2011 May;10;6:20.

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

Aghili H, Tabatabaei SM, Goldani Moghadam M. Clinical and radiographic features of Pycnodysostosis with emphasis on Dentofacial problems. Case reports in dentistry. 2017;2017:4352485.

Markatos K, Mavrogenis AF, Karamanou M, Androutsos G. Pycnodysostosis: the disease of Henri de Toulouse-Lautrec. Eur J Orthop Surg Traumatol. 2018 Dec;28(8):1569-72.

Fleming KW, Barest G, Sakai O. Dental and facial bone abnormalities in pyknodysostosis: CT findings. AJNR Am J Neuroradiol. 2007 Jan;28(1):132-4.

Kamak H, Kamak G, Yavuz I. Clinical, radiographic, diagnostic and cephalometric features of pycnodysostosis in comparison with Turkish cephalometric norms: A case report. Eur J Dent. 2012 Oct;6(4):454-9.

Rodrigues C, Gomes FA, Arruda JA, Silva L, Álvares P, da Fonte P, et al. Clinical and radiographic features of pycnodysostosis: A case report. J Clin Exp Dent. 2017 Oct 1;9(10):e1276-81.

Dhameliya MD, Dinkar AD, Khorate M, Dessai SS. Pycnodysostosis: Clinicoradiographic report of a rare case. Contemp Clini Dent. 2017 Jan;8(1):134.

Muralidhara K, Padanad G, Kumar TSS. Pycnodysostosis: a distinctive brittle bone disease? Int J Res Med Sci. 2016;4:5477-80.

Downloads

Published

2020-05-22

Issue

Section

Case Reports