Ichthyosis vulgaris and pycnodysostosis: an unusual occurrence
Keywords:
Pycnodysostosis, Ichthyosis vulgaris, Palmoplantar keratodermaAbstract
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.Downloads
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