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Albers-Schonberg Disease:Report of two rare cases

INTRODUCTION

 Osteopetrosis (Albers-Schonberg Disease) is a unique skeletal disease characterized by marked increase in bone density of skeletal tissues resulting from a defect in function1. First case reported was in 1904 by German radiologist Albers-Schonberg2   The disease has been demonstrated in all age groups. There is no predilection for either sex. It appears to be hereditary/familial in nature3. Dental abnormalities that present radiographically are delayed eruption and missing teeth. Primary and secondary dentitions that are poorly calcified may be delayed as a result of exceptional density of alveolar bone4. Radiologic features are usually diagnostic2.

 The purpose of reporting these cases is both are seen in the 1st decade, involving maxilla, and associated with odontogenic infection

CASE REPORT 1.

 An 8-year-old boy reported to the outpatient department to obtain a routine dental emergency treatment for a toothache. Patient had pus discharge for the last 1 week. Medical history was non- contributory accept that he had fractures of long bones twice after a fall, but had healed uneventfully. Family history revealed that the parents had consanguious marriage.

On examination there was an intra oral palatal swelling and pus discharge in relation to 64, 65 (fig 1.1) most of the teeth were malformed and few teeth were missing. A diagnosis of periapical infection was made.

Orthopantomograph showed generalized opacity in both the jaws. (Fig 1.2) Lateral skull showed sclerosis of the base and cranial vault (fig 1.3) long bones radiograph showed dense radiopacity (fig 1.4), Chest radiograph

(Fig 1.5) and pelvic region (fig 1.6) also show diffuse generalized opacity. Serum biochemistry values were within normal limits. Hemoglobin was

8 Gms. A diagnosis of   osteopetrosis was made on the basis of clinical and radiographic findings.

Infection was controlled by administration of IM doses of antibiotics and. The teeth 64, which was grade III mobile was extracted.

CASE REPORT 2

 A ten-year-old boy reported with a swelling on left side of the face since 15 days. (Fig 2.1) Also complained of palatal swelling since 3 months, exfoliation of few teeth and difficulty in speech.

On examination patient had a bitemporal constriction, nystagmus, and proptosis of left eye, continuous lacrimation and brachycephaly. Family history of consanguious marriage was found. The patient's elder sister had died of same complaint of swollen palate, early loss of teeth, odontogenic

infection, fever and seizures two years back before this patient reported here. Unfortunately, she was not reported and hence no records are available. Intraorally a palatal swelling with midline pseudo-clefting in the palate (fig 2.2) and a very tiny ulcer with slough on mucosa in relation to 63 and 64 was seen. Pus discharge was present with 64. Most teeth were malformed and displaced.

Orthopantomograph showed diffuse sclerosis of the maxilla, numerous unerupted teeth and malformed teeth (fig 2.3). Lateral skull radiograph showed diffuse sclerosis of base of the skull and calvarium (fig 2.4). Long bones showed diffuse sclerosis (fig 2.5) and chest radiographs presented with sclerosis of ribs (fig 2.6). Serum biochemistry values were within normal limits. The overall clinical and radiographic findings of this patient were sufficient to arrive at the diagnosis of osteopetrosis.

Parenteral antibiotics were administered to control the infection.

DISCUSSION

 It is an observed fact that, patients with rare systemic ailments like osteopetrosis rarely visit dentist unless they present with complications or secondary changes in oral and paraoral hard and soft tissues. This is very well illustrated in the present cases where palatal swelling prompted the patients to seek treatment from dentist. Osteopetrosis is a genetic disorder that is divided into primary basic types: an autosomal dominant benign form and autosomal malignant recessive form. Rubin designated the malignant type as Osteopetrosis congenita and benign type as Osteopetrosis tarda.5 Another variant of Osteopetrosis tarda was described and diagnosed in children or adults as the intermediate with poor prognosis2, 6, which may manifest like the Infantile type or be asymptomatic, and seen on radiological survey as diffuse osteosclerosis5. Characteristic dental changes in osteopetrosis has been reported by many authors1, 2,4,5,6.7.8,9,10,11, like the poorly formed and hypoplastic teeth, short roots, missing and unerupted teeth, early exfoliation of teeth, early onset periodontal and pulpal infections. Radiographic features of jaw anomalies, overall sclerotic appearance of jaws, most frequently maxilla, unerupted teeth, missing teeth, thickened cortices in calvaria, increased bone density of the cranial base, thickened trabeculae, diminished marrow spaces in both our cases coincide with findings reported by various authors, 6.7.8,9,10,11. The findings in our second case such as generalized retarded growth, failure to thrive, hydrocephaly and prominent frontal bossing are concurrent with theliterature 2, 5. These skeletal abnormalities result because of increased bone density affecting the growth and development of skull. The proliferation of bone surrounding nerve foramina results in optic nerve atrophy, blindness,

vestibular nerve dysfunction, deafness, ocular muscle paralysis and other cranial nerve dysfunction. The unusual findings of bony hard, expansile palatal swelling might have resulted because of late progressive involvement of maxillary bone by osteopetrotic disease process as confirmed radiographically.

Endobones or "bone within bone" in phalanges and metacarpals is a feature of malignant osteopetrosis2, 5 seen in the second case. Periapical infections or even minor infections may lead to Osteomylitis, which can be identified, on the radiographs 5, 7, 8. Case 2 findings are coincident with the malignant variant, and case 1 almost all features are consistent with the Intermediate type of osteopetrosis. There are relatively few cases reported of osteopetrosis and its actual cause not known. Prevalence is about 0.005% in general population12, 13. There is no curative therapy for osteopetrosis3 though supplements of calcium, interferons, bone marrow transplants14, have been tried but all with little success. Biopsy as a diagnostic procedure is not advisable because of the risk of developing Osteomylitis 6 hence no biopsy was performed.

D/D for Osteopetrosis.                                                                                                                                                                        

 

(a)  Craniometaphyseal dysplasia.

(b)  Pyknodysostosis.

(c)  Hypoparathyroidism.

(d) Osteoblastic metastases.

(e)  Sclerosteosis.

(f)   Diaphyseal dysplasia.

(g)  Osteopathia striata.

Summary:

These two rare cases may thus more accurately represent examples of Intermediate (autosomal recessive trait) in (case- 1) and malignant form in (case -2) of osteopetrosis. The general dental practitioner or clinicians should be aware of such unusual presentation of Osteopetrosis hence thorough systemic, radiographic and laboratory evaluation of such systemic diseases is vital in improving the overall health of the patients.

D/D for Osteopetrosis.                                                                                                                                                                        

 

(a)  Craniometaphyseal dysplasia.

(b)  Pyknodysostosis.

(c)  Hypoparathyroidism.

(d) Osteoblastic metastases.

(e)  Sclerosteosis.

(f)   Diaphyseal dysplasia.

(g)  Osteopathia striata.

Summary:

These two rare cases may thus more accurately represent examples of Intermediate (autosomal recessive trait) in (case- 1) and malignant form in (case -2) of osteopetrosis. The general dental practitioner or clinicians should be aware of such unusual presentation of Osteopetrosis hence thorough systemic, radiographic and laboratory evaluation of such systemic diseases is vital in improving the overall health of the patients.

REFERENCES

 

1. Neville, Smith.  Albers-Schonberg Disease (osteopetrosis) Oral surg, oral med, oral pathol. 1966, 22(6); 699-710.

2. Anuj Bhargava, Robert Blank, Stanley Wellach, Francisco T, Mark cooper, George   T.G, Osteopetrosis, Medline 2006.

3. Ralph Cangiano, John mooney and George T Steatigos Osteopetrosis: Report of a case.    J.Oral Surgery, 1972,30:217-222

4. Paul W. Goaz, Stuart C. White, Donald D. Blaschike. Diseases of bone manifested in   the jaws. In ; Goaz and White 3rd Ed – Oral Radiology principles and interpretation.   Mosby 1994: Harcourt Brace and company Asia Pte Ltd, 528- 532.

5. R.P. Langlais, Olaf E Langland, and Christoffel J Nortje. Generalised radiopacities In: R.P Langlais, Olaf E Langland, Christoffel J Nortje. Diagnostic imaging of jaws 1995. Williams and Wilkins, Waverly Company, USA.  598-601.

6. A M Filho, A de Castro Domingos, DO de frritas, E J Whaites. Osteopetrosis – a review and report of two cases. Oral Diseases. 2005, 11, 46-47.

7. Martin Steiner, Alan R. Gould and William R. Means. Osteomyelitis of the mandible associated with Osteopetrosis. J. Oral maxillofacial surgery. 1983, 4, 395-405.

8. H.M Worth. Developmental abnormalities of jaws 3rd chap. In H.M worth.

     Interpretation of radiology. Lippincott Inc. 128-131.

9. H.M Dick, and W.J Simpson. Dental changes in Osteopetrosis. J. Oral surgery 1972, 34  (3) 408- 414.

10. A Rupercht, H. Wagner, and H Engel. Osteopetrosis: Report of a case and discussion of differential diagnosis. Oral surg, oral med, oral pathol 1988: 66:674-679

11. R Rajendran. Diseases of bone and joints ch 17 in Shafer, Hine and Levy. Shafer's textbook of Oral pathology.5th Ed 2006. Elsevier India pvt Ltd 963-65

12. K.Satomura, M Kon, R. Tokuyama, M Tomonari, M Takechi, T yuasa et al.Osteopetrosis complicated by osteomyelitis of the mandible : a case report including characterization  of the osteopetrotic bone. Oral and maxillofac surg 2007: 36: 86- 93.

13. Batra P. Shah.N. Recalcitrant Osteomyelitis following tooth extraction in a case of   malignant Osteopetrosis. Int.Dent J 2004:54;418-423.

14. Drez- Desprez, C Azou, P. Bordigoni and M Bonnaure- mallet. Infantile

     Osteopetrosis : A case report on dental findings. J oral pathol, med 

    1992: 21; 422- 425 

       

      Fig 1.1 patient showing intraoral swelling  

fig 1.2 OPG showing diffuse sclerosis of jaws

fig 1.3 lateral skull showing sclerosis of base & skull vault

Fig 1.4 sclerosis seen inOf hands and wrist bones

fig 1.5 chest showing diffuse sclerosis

Fig 1.6 sclerosis of pelvic region

Fig-2.1 left diffuse infra-orbital swelling

Fig-2.2 Palatal swelling

Fig-2.3 OPG  osteosclerotic changes and impacted teeth

fig 2.4showing sclerosis of skull

fig 2.5 Hand and wrist showing Diffuse sclerosis

fig 2.6 chest radiograph showing diffuse sclerosis

                                                                                                                                                        

                                                                                                                                                                        

About the Author

       

  1.Dr Mangala M

             MDS

PMNM Dental College and hospital Bagalkot, Karnataka

Dept of oral medicine and radiology

2.  dr Nabi khan

assoc prof

govt dental college ,raipur

Address for correspondence

Dr Mangala Meti

PMNM Dental College and hospital Bagalkot, Karnataka

Dept of oral medicine and radiology

E-mail drmangalapgr@rediff.com

           

 

 

      

        

 

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