Ichthyosis vulgaris and pycnodysostosis: an unusual occurrence

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

Abstract


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.

Keywords


Pycnodysostosis; Ichthyosis vulgaris; Palmoplantar keratoderma

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References


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