Case Study : :Pyle's disease

A female patient aged about 17 years reported with complaint of pain in the
lower right molar region over 2–3 days. The pain was insidious in onset with
dull aching, moderate intensity, intermittent in nature and increasing with
chewing.
Past medical history was insignificant except for a history of fracture of her
lower right leg when she was 3 years of age. Her developmental milestones
were normal, as reported by her mother.
She had undergone oral prophylaxis and dental restorations 2 years previously.
Her family history was insignificant.
On general examination she appeared moderately built and nourished. The
right submandibular lymph node was enlarged, tender, soft and mobile. Mouth
opening was within normal limits.
Intraoral examination revealed areas of depapillation of the tongue. Several
permanent teeth were clinically missing (premolars in the right maxillary
quadrant, canine and premolars in the left mandibular quadrant and canine
and second premolar in the right mandibular quadrant). Multiple retained
deciduous teeth were present which contributed to the crowding of teeth in the
upper and lower arches.
Deep proximal caries was present on the mandibular left second permanent
molar (37), right first permanent molar (46), right second deciduous molar
(85) and all these teeth were tender to percussion. A working diagnosis of
apical periodontitis in relation to the mandibular right first permanent molar
was made.
Intraoral periapical radiographs revealed discontinuity of lamina dura and hazy
radiolucency in relation to periapex of teeth 46 and 37 . Fine trabeculation of
the alveolar bone was noted in both periapical radiographs. A panoramic
radiograph, taken because of the multiple missing teeth, revealed multiple
retained primary and unerupted permanent teeth as well as generalized
rarefaction of jaws, fine, scanty trabeculations, thinning of cortices of
mandible, wall of maxillary sinus and lamina dura and flared neck of the
condyle
radiographic differential diagnosis included metabolic bone disorders such as
rickets, hyperparathyroidism, renal osteodystrophy and hypophosphataemia.
However, the patient did not manifest clinical features of any of these disorders
and a complete haemogram, serum calcium and phosphorous, and alkaline
phosphatase values were within normal range.
The patient was referred to a general radiologist for a skeletal survey, which
revealed striking radiographic changes.
The metaphyses of the lower end of both femora showed widening and
thinning of cortices and ground glass opacity of osteoid matrix, giving rise to
“Erlenmeyer flask deformity”. Diaphyses appeared spaced.
Panoramic radiograph showing multiple retained primary teeth and unerupted
permanent teeth, and generalized rarefaction of the jaws, with fine, scanty
trabeculations
Whats ur Diagnosis?

Diagnosis:Pyle's disease
Pyle's disease (PD) is a rare skeletal dysplasia in which a defect in
metaphyseal remodelling leads to grossly widened metaphysis of long bones.
First described by Pyle in 1931.
Clinical signs and symptoms of PD are mild and the disease course is usually
benign.3Occasional abnormalities include muscle weakness, joint pain,
scoliosis, platyspondylia, fractures, carious and misplaced teeth, prognathism
and enlarged big toe.3Increased bone fragility is a well recognized but variable
component of Pyle disease.The lower extremity is more markedly affected than
the upper.
Concerns about the ability to withstand trauma to jaw bones and the nature of
healing in patients with this disease will naturally arise. The pathophysiology is
incompletely understood, but is apparently due to failure of subperiosteal
remodelling in the metaphyses; the cause of this is thought to be chronic
hyperaemia of the perichondral ring of osteoblasts. The hyperaemia may be
due to congenital hyperplasia of the perichondral ring arteries.
Bone softness and fragility are well documented in Pyle's disease, which may
have surgical implications.
Extractions and surgeries may have a favourable outcome in patients with
Pyle's disease. Minimum force should be used during dental procedures since
bone mineral density may be reduced in these patients.