studied 20 patients with type II autosomal dominant osteopetrosis, the youngest patient being 3 years old and the oldest patient being 63 years old [19]. Peripheral smear showed normocytic and normochromic anemia.

Liver function tests were normal (serum bilirubin 0.75 mg/dL, SGOT 20 IU/L, SGPT 18.3 IU/L, alkaline phosphatase 80 IU/L, total protein 7 gms/L, albumin 4.6 gms/L, globulin 3 gms/L), and serum calcium was 8.9 mg/dL, and serum phosphorus was 3.0 mg/dL. Radiograph of the lumbar spine AP and lateral view showed sclerosis at all the levels and “bone-in-bone appearance.” Normal spinous processes, normal height, and morphology of the individual vertebrae were noted (Figures 7 and 8). Oral Surgery, Oral Medicine, Oral Pathology, https://doi.org/10.1016/0030-4220(80)90302-3. Chronic sclerosing osteomyelitis has been frequently described in the literature but little has been recommended for the management of the resistent cases that fail to respond to conservative treatment. ADO type II is the most common form of osteopetrosis with an estimated prevalence of 1 in 20,000 births. We are committed to sharing findings related to COVID-19 as quickly as possible. Panoramic radiograph of the patient’s brother was also performed, which was normal (Figure 13). This phenotype is not associated with an increased fracture rate and is reported to be fully penetrant [8].

Left side of the mandible was comparatively less affected, showing an increase in bone density but no cotton wool appearance and no frank obliteration of the inferior alveolar canal. Fracture was the most prevalent clinical manifestations occurring in 84% of all ADO type II subjects reported by Waguespack et al., fractures of the pelvis, hip, and femur being most the common (84%) [21]. Looks like you’ve clipped this slide to already. Copyright © 2020 Elsevier B.V. or its licensors or contributors. Here you will find more than 5000 Medical Mcqs for preparation.

10% of the patients reported fractures in 4–10 bones, and more than 10 bones were fractured in 15% of the patients [19]. 21. Cranial nerve compression is rare, hearing loss and visual loss occur in fewer than 5% of the affected patients. Radiographically, sclerosis predominates, in several sites, including the spine (vertebral end-plate thickening, or Rugger-Jersey spine), the pelvis (“bone-within-bone” structures), and the cranial base. Moreover, because of the high infection risk and increased susceptibility to jaw fracture in these patients, they should receive increased attention and prophylactic dental treatment to maintain their fragile oral health status. If you wish to opt out, please close your SlideShare account. Chronic sclerosing osteomyelitis: Treatment considerations in an atypical case. Radiographie examination showed a diffuse cotton-wool appearance of the maxilla and mandible with an irregular radiolucent area in the left mandibular body. Radiographic evidence of Actinomyces osteomyelitis complicating florid cemento-osseous dysplasia (FCOD).

and fractures of femur and ribs being the most common (76%) [16]. Mosaic pattern Soft tissue fibrous in trabeculae of bone. Active osteoclasts. Increase in the skull base density can also be seen [16]. Chronic osteomyelitis is a primary infection of the mandible presenting with unilateral pain, soft tissue swelling, fever, and lymphadenopathy. No signs of cranial nerve involvement, dental caries, and abscesses were noted. The dental changes reported to be associated with osteopetrosis include disturbance of tooth eruption, hypodontia, malformed teeth, multiple caries, enamel dysplasia, abnormal pulp chambers, and hypercementosis [12, 13]. The incidence of autosomal dominant osteopetrosis type II is reported to be the same for males and females. On extraoral examination hypertelorism, exophthalmos, depressed nasal bridge, broad face, and a prognathic mandible were noted. Formerly Senior Resident; currently in private practice in High Point, N. C. We use cookies to help provide and enhance our service and tailor content and ads. In 75% of the cases, osteoclast chloride (CLC7) gene mutation is responsible for the clinical manifestations [12].

Panoramic radiograph of our case showed generalised increase in the bone density, lack of distinct lamina dura, and absence of normal trabecular pattern involving both jaws, obliteration of the inferior alveolar nerve canal, cotton wool appearance on the right side of the mandible, and bilateral hypoplasia of the maxillary sinus.

The increase in bone density results from abnormalities in osteoclast differentiation or function [2]. Furthermore, biopsy must be avoided because of a marked infection risk [26, 27]. ADO type II is the most common form and has an extremely heterogeneous course ranging from an asymptomatic to a severe phenotype. Clinical manifestation in the form of diffuse pain was reported in 30% of the patients by Del Fattore et al. Review articles are excluded from this waiver policy. The aim of this case report is to present the clinical and radiographic features of a 35-year-old female patient with autosomal dominant osteopetrosis type II who exhibited features of chronic generalised periodontitis, and the radiographs revealed generalised osteosclerosis and hallmark radiographic features of ADO type II, that is, “bone-within-bone appearance” and “Erlenmeyer-flask deformity.”. El-Tawil and Stoker reported a fracture rate of 62% (femur most common) [24]. The diagnosis of osteopetrosis is based on radiological and clinical features and these findings are sufficiently characteristic to make a definite diagnosis, and there is no need to perform a genetic study to confirm the disease. Very nice tips on this. Now customize the name of a clipboard to store your clips. The base of the skull appeared highly radiodense with loss of trabecular pattern, and there was hypoplasia of foramen magnum, and other foramina were obliterated (Figure 3). The main complication in patients with autosomal dominant osteopetrosis type II is osteomyelitis, particularly affecting the mandible in association with dental caries and abscess [12]. Copyright © 2013 Priyanka Kant et al. Patient gave no history of previous fractures or swellings elsewhere in the body. reported a male predominance in their study too [21].

Clinical and Radiological Findings of Autosomal Dominant Osteopetrosis Type II: A Case Report, Department of Oral Medicine and Radiology, Manav Rachna Dental College, Sector 43, Aravalli Hills, Delhi-Surajkund Road, Faridabad, Haryana 121001, India, Department of Oral Medicine and Radiology, Sharad Pawar Dental College and Hospital, Sawangi, Wardha, Maharashtra 442001, India, X-linked osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency (OLEDAID), Autosomal dominant osteopetrosis (Alber’s Schönberg disease), Increased bone density, diffuse and focal sclerosis of varying severity, Pancytopenia, extramedullary hematopoiesis, hepatosplenomegaly, cranial nerve compression (II, VII, and VIII), hydrocephalus, and hypocalcemia, As for classic ARO, but primary neurodegeneration, including retinal atrophy, Renal tubular acidosis, developmental delay, intracranial calcification, cranial nerve compression, and rare bone marrow impairement, Anhidrotic ectodermal dysplasia, lymphedema, and immunodeficiency resulting in overwhelming infection, Anaemia and extramedullary hematopoiesis, occasional optic nerve compression, Moderate haematological failure, cranial nerve compression, H. E. Albers-Schonberg, “Rontgenbilder einer seltenen Knockenerkrankung,”, A. Superti-Furga, S. Unger, and The Nosology Group of the International Skeletal Dysplasia Society, “Nosology and classification of genetic skeletal disorders: 2006 revision,”, S. C. Marks Jr., “Pathogenesis of osteopetrosis in the, B. H. Schofield, L. S. Levin, and S. B. Doty, “Ultrastructure and lysosomal histochemistry of, K. Nagahama, K. Aoki, K. Nonaka et al., “The deficiency of immunoregulatory receptor PD-1 causes mild osteopetrosis,”, J. Bollerslev and P. E. Andersen Jr., “Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis,”, D. K. Lam, G. K. B. Sándor, H. I. Holmes, R. P. Carmichael, and C. M. L. Clokie, “Marble bone disease: a review of osteopetrosis and its oral health implications for dentists,”, S. G. Kahler, J. PMNLs and chronic inflammatory cells 22. Three distinct forms of the disease have been recognized, autosomal dominant osteopetrosis being the most common. Scribd will begin operating the SlideShare business on December 1, 2020 Most individuals have a “bone-within-bone” appearance primarily in the iliac wings, but also in other bones.

Hematologic investigations showed Hb of 10.8 g/dL, white blood cells 6.5 k/uL, and platelet count 130 k/uL, and ESR was in the normal range. Defects in different genes have been described that lead to a phenotype with osteopetrosis, and mutations in at least 10 genes have been identified as causative in humans. Other classic manifestations of ADO type II include hip osteoarthritis, scoliosis, and osteomyelitis, particularly affecting the mandible. Diffuse patchy, cotton-wool appearance in sclerosis of bone. Panoramic radiograph showed signs of early periodontitis with generalised mild to moderate bone loss around teeth. Therefore, a proper clinical and radiographic investigation is essential for accurate diagnosis. 8, 10 The secondarily infected lesion of FOD has a wider radiolucent border than chronic osteomyelitis. Family history of the patient was unclear. No caries, mobility, attrition, abrasion, and so forth were noted in any of the teeth.

Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. Learn more. ADO type I is generally very mild with a diffuse sclerosis without alterations in the bone turnover. Intraoral examination revealed generalised gingival inflammation, generalised shallow pockets, and gingival recession with lower anterior teeth. Sign up here as a reviewer to help fast-track new submissions. In case you need help on any kind of academic writing visit website ⇒ www.WritePaper.info ⇐ and place your order, Isra Institute of Rehab Sciences (IIRS), Isra University, No public clipboards found for this slide. ADO type II has an extremely heterogeneous course ranging from an asymptomatic to a severe phenotype [22]. AP view of radius and ulna showed increased radiodensity in all the bones, smoothening of the bone surfaces, and cylindrical metacarpals (Figure 12). However, the radiological penetrance is only 60%–90% [12]. Radiograph of the pelvis showed expanding osteosclerosis of the pelvic bone and the iliac wings (Figure 9). Treatment is largely supportive and is aimed at providing multidisciplinary surveillance and symptomatic management of complications. If you continue browsing the site, you agree to the use of cookies on this website. Age of onset of ADO type II is late childhood or adolescence [12]. On regular follow-up visits for 6 months, the patient showed no evidence of fractures and osteomyelitis affecting any bone, no signs of cranial nerve involvement and no dental caries and abscesses. reported visual loss in 5% of the patients [16]. These defects include mutations in the gene encoding carbonic anhydrase II, the proton pump gene, and the chloride channel gene [5, 6].