Oral Cavity — A Window to Systemic Illness.

Oral cavity very often has been described as reflection of our body as most of the initial clinical symptoms occur in oral cavity. The current paper also focuses on the oral presentation of the systemic condition called Pyknodysostosis (MIM 265800) which is a rare, autosomal recessive skeletal dysplasia characterized by short stature, wide cranial sutures, and increased bone density and fragility was first described in 1962 by Maroteaux and Lamy under the heading of diastrophic dwarfism.

Pyknodysostosis: report of a rare case with review of literature

Pyknodysostosis is a rare autosomal recessive disorder characterized by the post natal onset of short limbs, short stature, and generalized hyperostosis along with acro-osteolysis with sclerosis of the terminal phalanges, a feature that is considered essentially pathognomonic. Other features include persistence of fontanelles, delayed closure of sutures, wormian bones, absence of frontal sinuses, and obtuse mandibular gonial angle with relative mandibular prognathism. We report a case of 17-year-old girl who presented with a chief complaint of retention of deciduous teeth. General physical examination demonstrated short stature, frontal and parietal bossing, depressed nasal bridge, beaked nose, hypoplastic midface, wrinkled skin over the finger tips, and nail abnormalities. Radiographs showed multiple impacted permanent and supernumerary teeth, hypoplastic paranasal sinuses with acro-osteolysis of terminal phalanges, and open fontanelles, and sutures along with wormian bones in the lambdoidal region.

“Pyknodysostosis” A Case Report.

Pyknodysostosis is a rare disorder of skeletal dysplasia that is inherited as an autosomal recessive genetic trait. Several mutations have been found in the gene encoding cathepsin K - a lysosomal cysteine protease and the gene situated at 1q21. A mutation in this gene leads to loss of enzyme for osteoclastic activities responsible for the metabolism of skeletal system leading to defective bone remodeling and resorption and various other skeletal abnormalities. Here we report a case of 12 year old female from mid-western hilly region of Nepal with Pyknodysostosis having fracture femur and other skeletal dysplasia. The characteristic features of this syndrome are dwarfism, large open fontenelles, wide cranial sutures, small retrograde mandible, multiple fractures and osteosclerosis, dental abnormalities, short and broad hands and feet, blue sclera, multiple fractures and nail may be dysplastic1.