%0 Journal Article
%T Ichthyosis vulgaris and pycnodysostosis: An unusual occurrence
%A Vinayak Y. Kshirsagar
%A Minhajuddin Ahmed
%A Suhel Nagarsenkar
%A Kulmani Sahoo
%J Acta Medica Academica
%D 2012
%I Academy of Sciences and Arts of Bosnia and Herzegovina
%X 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. This clinical entity includes micromelic dwarfism, increased radiological bone density, dysplasia of the skull, acro-osteolysis, straightening of the mandibular angle and in some cases, dysplasia of the acromial end of the clavicle. Oral and maxillo-facial manifestations of this disease are very clear. Herein we reported a case of pycnodysostosis, showing short stature with widening of the sutures, unfused anterior and posterior fontanelles, crowding of teeth with dental caries and typical radiological features associated with ichthyosis vulgaris and palmoplantar keratoderma.
%K Pycnodysostosis
%K Ichthyosis vulgaris
%K Palmoplantar keratoderma
%U http://www.ama.ba/index.php/ama/article/view/154/pdf