Ichthyosis vulgaris and pycnodysostosis: an unusual occurrence


  • Vinayak Y. Kshirsagar
  • Minhajuddin Ahmed
  • Suhel Nagarsenkar
  • Kulmani Sahoo
  • Kuldeep B. Shah


Pycnodysostosis, Ichthyosis vulgaris, Palmoplantar keratoderma


Pycnodysostosis is a rare autosomal recessive disorder whose generesponsible for this phenotype (CTSK), mapped to human chromosome1q21, code for the enzyme cathepsin K, a lysosomal cysteineprotease; with an estimated incidence of 1.7 per 1 million births. Thisclinical entity includes micromelic dwarfism, increased radiologicalbone density, dysplasia of the skull, acro-osteolysis, straightening ofthe mandibular angle and in some cases, dysplasia of the acromial endof the clavicle. Oral and maxillo-facial manifestations of this diseaseare very clear. Herein we reported a case of pycnodysostosis, showingshort stature with widening of the sutures, unfused anterior andposterior fontanelles, crowding of teeth with dental caries and typicalradiological features associated with ichthyosis vulgaris and palmoplantarkeratoderma.


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How to Cite

Kshirsagar, V. Y., Ahmed, M., Nagarsenkar, S., Sahoo, K., & Shah, K. B. (2012). Ichthyosis vulgaris and pycnodysostosis: an unusual occurrence. Acta Medica Academica, 41(2), 214–218. Retrieved from https://ama.ba/index.php/ama/article/view/154



Case Presentation