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Ichthyosis vulgaris and pycnodysostosis: an unusual occurrence.

Abstract
Pycnodysostosis is a rare autosomal recessive disorder whose gene responsible for this phenotype (CTSK), mapped to human chromosome 1q21, code for the enzyme cathepsin K, a lysosomal cysteine protease; 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.
AuthorsVinayak Y Kshirsagar, Minhajuddin Ahmed, Suhel Nagarsenkar, Kulmani Sahoo, Kuldeep B Shah
JournalActa medica academica (Acta Med Acad) Vol. 41 Issue 2 Pg. 214-8 ( 2012) ISSN: 1840-2879 [Electronic] Bosnia and Herzegovina
PMID23331396 (Publication Type: Case Reports, Journal Article)
CopyrightCopyright © 2012 by Academy of Sciences and Arts of Bosnia and Herzegovina.
Chemical References
  • CTSK protein, human
  • Cathepsin K
Topics
  • Body Height (genetics)
  • Cathepsin K (genetics)
  • Child
  • Chromosomes, Human, Pair 1
  • Cranial Fontanelles (abnormalities)
  • Cranial Sutures (abnormalities)
  • Dental Caries (genetics)
  • Dwarfism (genetics)
  • Female
  • Humans
  • Ichthyosis Vulgaris (genetics)
  • Keratoderma, Palmoplantar (genetics)
  • Maxillofacial Abnormalities (genetics)
  • Pycnodysostosis (complications, pathology)
  • Rare Diseases
  • Tooth

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