Osteopetrosis

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Osteopetrosis, also known as Albers-Schönberg disease or marble bone disease, is an uncommon hereditary disorder that results from defective osteoclasts. Bones become sclerotic and thick, but their abnormal structure actually causes them to be weak and brittle.

There are two separate subtypes of osteopetrosis:

Clinical presentation

Presentation, in the majority of cases, is with a fracture due to weakened bones. Fractures are often transverse with multiple areas of callus formation and normal healing.

Additionally, there is crowding of the marrow, so bone marrow function is affected resulting in myelophthisic anaemia and extramedullary haematopoiesis with splenomegaly. This may terminate in acute leukaemia.

Pathology

Both forms are congenital abnormalities with localised chromosomal defects. These result in defective osteoclasts and overgrowth of bone. The bones become thick and sclerotic, but their increased thickness does not improve their strength. Instead, their disordered architecture results in weak and brittle bones. The osteoclasts lack carbonic anhydrase leads to inablity to acidify Howships lacuna in bone. Cholride channels dysfunction also can lead to osteopetrosis.

Radiographic features

The features are dependant on the subtype of osteopetrosis and are detailed in the individual articles:

Treatment and prognosis

Treatment is with bone marrow transplant and resultant normalisation of bone production. The prognosis for the autosomal dominant adult subtype is good with a normal life expectancy. However, the autosomal recessive infantile subtype can result in stillbirth or death in infancy, with few patients living past middle age.

History and etymology

The term is derived from the Greek words 'osteo' meaning bone and 'petros' meaning stone. It was first described by German radiologist Heinrich Ernst Albers-Schönberg (1865-1921) in 1904^4,6. Interestingly Albers-Schonberg was the first Professor of Radiology in Germany - and perhaps globally - the Chair was bestowed on him by the University of Hamburg in 1919 ⁶.

Differential diagnosis

General imaging differential considerations include:

heavy metal poisoning (e.g. lead)
melorheostosis
hypervitaminosis D
pyknodysostosis
fibrous dysplasia of skull or face

-<p><strong>Osteopetrosis</strong>, also known as <strong>Albers-Schönberg disease</strong> or <strong>marble bone disease</strong><em>, </em>is an uncommon hereditary disorder that results from defective <a href="/articles/osteoclasts">osteoclasts</a>. Bones become sclerotic and thick, but their abnormal structure actually causes them to be weak and brittle.</p><p>There are two separate subtypes of osteopetrosis:</p><ul>
~~-<li><p><a href="/articles/autosomal-recessive-osteopetrosis-1">infantile autosomal recessive osteopetrosis</a></p></li>~~
~~-<li><p><a href="/articles/autosomal-dominant-osteopetrosis">benign adult autosomal dominant osteopetrosis</a></p></li>~~
-</ul><h4>Clinical presentation</h4><p>Presentation, in the majority of cases, is with a fracture due to weakened bones. Fractures are often transverse with multiple areas of callus formation and normal healing.</p><p>Additionally, there is crowding of the marrow, so bone marrow function is affected resulting in <a href="/articles/myelophthisic-anaemia">myelophthisic anaemia</a> and <a href="/articles/extramedullary-haematopoiesis">extramedullary haematopoiesis</a> with <a href="/articles/splenomegaly">splenomegaly</a>. This may terminate in <a href="/articles/acute-leukaemia">acute leukaemia</a>.</p><h4>Pathology</h4><p>Both forms are congenital abnormalities with localised chromosomal defects. These result in defective osteoclasts and overgrowth of bone. The bones become thick and sclerotic, but their increased thickness does not improve their strength. Instead, their disordered architecture results in weak and brittle bones. The osteoclasts lack carbonic anhydrase leads to inablity to acidify Howships lacuna in bone. Cholride channels dysfunction also can lead to osteopetrosis. </p><h4>Radiographic features</h4><p>The features are dependant on the subtype of osteopetrosis and are detailed in the individual articles:</p><ul>
~~-<li><p><a href="/articles/autosomal-recessive-osteopetrosis-1">infantile autosomal recessive osteopetrosis</a></p></li>~~
~~-<li><p><a href="/articles/autosomal-dominant-osteopetrosis">benign adult autosomal dominant osteopetrosis</a></p></li>~~
-</ul><h4>Treatment and prognosis</h4><p>Treatment is with <a href="/articles/haematopoietic-stem-cell-transplantation">bone marrow transplant</a> and resultant normalisation of bone production. The prognosis for the autosomal dominant adult subtype is good with a normal life expectancy. However, the autosomal recessive infantile subtype can result in stillbirth or death in infancy, with few patients living past middle age.</p><h4>History and etymology</h4><p>The term is derived from the Greek words 'osteo' meaning bone and 'petros' meaning stone. It was first described by German radiologist <strong>Heinrich Ernst Albers-Schönberg</strong> (1865-1921) in 1904<sup> 4,6</sup>. Interestingly Albers-Schonberg was the first Professor of Radiology in Germany - and perhaps globally - the Chair was bestowed on him by the University of Hamburg in 1919 <sup>6</sup>. </p><h4>Differential diagnosis</h4><p>General imaging differential considerations include:</p><ul>
~~-<li><p>heavy metal poisoning (e.g. <a href="/articles/lead-poisoning-1">lead</a>)</p></li>~~
~~-<li><p><a href="/articles/melorheostosis-1">melorheostosis</a></p></li>~~
~~-<li><p><a href="/articles/hypervitaminosis-d">hypervitaminosis D</a></p></li>~~
~~-<li><p><a href="/articles/pyknodysostosis">pyknodysostosis</a></p></li>~~
~~-<li><p><a href="/articles/fibrous-dysplasia">fibrous dysplasia</a> of skull or face</p></li>~~
~~-</ul><h4>See also</h4><ul>~~
~~-<li><p><a href="/articles/diffuse-bony-sclerosis-mnemonic" title="Diffuse bony sclerosis (mnemonic)">generalised increased bone density (mnemonic)</a></p></li>~~
~~-<li><p><a href="/articles/generalised-increased-bone-density-in-children">generalised increased bone density in children</a></p></li>~~
~~-<li><p><a href="/articles/generalised-increased-bone-density-in-adults">generalised increased bone density in adults</a></p></li>~~
+<p><strong>Osteopetrosis</strong>, also known as <strong>Albers-Schönberg disease</strong> or <strong>marble bone disease</strong><em>, </em>is an uncommon hereditary disorder that results from defective <a href="/articles/osteoclasts">osteoclasts</a>. Bones become sclerotic and thick, but their abnormal structure actually causes them to be weak and brittle.</p><p>There are two separate subtypes of osteopetrosis:</p><ul>
+<li><p><a href="/articles/autosomal-recessive-osteopetrosis-1">infantile autosomal recessive osteopetrosis</a></p></li>
+<li><p><a href="/articles/autosomal-dominant-osteopetrosis">benign adult autosomal dominant osteopetrosis</a></p></li>
+</ul><h4>Clinical presentation</h4><p>Presentation, in the majority of cases, is with a fracture due to weakened bones. Fractures are often transverse with multiple areas of callus formation and normal healing.</p><p>Additionally, there is crowding of the marrow, so bone marrow function is affected resulting in <a href="/articles/myelophthisic-anaemia">myelophthisic anaemia</a> and <a href="/articles/extramedullary-haematopoiesis">extramedullary haematopoiesis</a> with <a href="/articles/splenomegaly">splenomegaly</a>. This may terminate in <a href="/articles/acute-leukaemia">acute leukaemia</a>.</p><h4>Pathology</h4><p>Both forms are congenital abnormalities with localised chromosomal defects. These result in defective osteoclasts and overgrowth of bone. The bones become thick and sclerotic, but their increased thickness does not improve their strength. Instead, their disordered architecture results in weak and brittle bones. The osteoclasts lack carbonic anhydrase leads to inablity to acidify Howships lacuna in bone. Cholride channels dysfunction also can lead to osteopetrosis. </p><h4>Radiographic features</h4><p>The features are dependant on the subtype of osteopetrosis and are detailed in the individual articles:</p><ul>
+<li><p><a href="/articles/autosomal-recessive-osteopetrosis-1">infantile autosomal recessive osteopetrosis</a></p></li>
+<li><p><a href="/articles/autosomal-dominant-osteopetrosis">benign adult autosomal dominant osteopetrosis</a></p></li>
+</ul><h4>Treatment and prognosis</h4><p>Treatment is with <a href="/articles/haematopoietic-stem-cell-transplantation">bone marrow transplant</a> and resultant normalisation of bone production. The prognosis for the autosomal dominant adult subtype is good with a normal life expectancy. However, the autosomal recessive infantile subtype can result in stillbirth or death in infancy, with few patients living past middle age.</p><h4>History and etymology</h4><p>The term is derived from the Greek words 'osteo' meaning bone and 'petros' meaning stone. It was first described by German radiologist <strong>Heinrich Ernst Albers-Schönberg</strong> (1865-1921) in 1904<sup> 4,6</sup>. Interestingly Albers-Schonberg was the first Professor of Radiology in Germany - and perhaps globally - the Chair was bestowed on him by the University of Hamburg in 1919 <sup>6</sup>. </p><h4>Differential diagnosis</h4><p>General imaging differential considerations include:</p><ul>
+<li><p>heavy metal poisoning (e.g. <a href="/articles/lead-poisoning-1">lead</a>)</p></li>
+<li><p><a href="/articles/melorheostosis-1">melorheostosis</a></p></li>
+<li><p><a href="/articles/hypervitaminosis-d">hypervitaminosis D</a></p></li>
+<li><p><a href="/articles/pyknodysostosis">pyknodysostosis</a></p></li>
+<li><p><a href="/articles/fibrous-dysplasia">fibrous dysplasia</a> of skull or face</p></li>
+</ul><h4>See also</h4><ul>
+<li><p><a href="/articles/diffuse-bony-sclerosis-mnemonic" title="Diffuse bony sclerosis (mnemonic)">generalised increased bone density (mnemonic)</a></p></li>
+<li><p><a href="/articles/generalised-increased-bone-density-in-children">generalised increased bone density in children</a></p></li>
+<li><p><a href="/articles/generalised-increased-bone-density-in-adults">generalised increased bone density in adults</a></p></li>

References changed:

1. Kolawole T, Hawass N, Patel P, Mahdi A. Osteopetrosis: Some Unusual Radiological Features with a Short Review. Eur J Radiol. 1988;8(2):89-95. - <a href="https://www.ncbi.nlm.nih.gov/pubmed/3383862">Pubmed</a>
2. Curé J, Key L, Goltra D, VanTassel P. Cranial MR Imaging of Osteopetrosis. AJNR Am J Neuroradiol. 2000;21(6):1110-5. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7973881">PMC7973881</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/10871023">Pubmed</a>
3. Sit C, Agrawal K, Fogelman I, Gnanasegaran G. Osteopetrosis: Radiological & Radionuclide Imaging. Indian J Nucl Med. 2015;30(1):55-8. <a href="https://doi.org/10.4103/0972-3919.147544">doi:10.4103/0972-3919.147544</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/25589808">Pubmed</a>
5. Stark Z & Savarirayan R. Osteopetrosis. Orphanet J Rare Dis. 2009;4(1):5. <a href="https://doi.org/10.1186/1750-1172-4-5">doi:10.1186/1750-1172-4-5</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/19232111">Pubmed</a>
6. Z. V. Maizlin. Wonders of Radiology. (2010) ISBN: 9781449976453 - <a href="http://books.google.com/books?vid=ISBN9781449976453">Google Books</a>
1. Kolawole TM, Hawass ND, Patel PJ et-al. Osteopetrosis: some unusual radiological features with a short review. Eur J Radiol. 1988;8 (2): 89-95. <a href="http://www.ncbi.nlm.nih.gov/pubmed/3383862">Pubmed citation</a><span class="ref_v3"></span>
2. Curé JK, Key LL, Goltra DD et-al. Cranial MR imaging of osteopetrosis. AJNR Am J Neuroradiol. 2000;21 (6): 1110-5. <a href="http://www.ajnr.org/content/21/6/1110.full">AJNR Am J Neuroradiol (full text)</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/10871023">Pubmed citation</a><span class="ref_v3"></span>
3. Sit C, Agrawal K, Fogelman I, Gnanasegaran G. Osteopetrosis: radiological & radionuclide imaging. Indian journal of nuclear medicine : IJNM : the official journal of the Society of Nuclear Medicine, India. 30 (1): 55-8. <a href="https://doi.org/10.4103/0972-3919.147544">doi:10.4103/0972-3919.147544</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/25589808">Pubmed</a> <span class="ref_v4"></span>
5. Stark Z, Savarirayan R. Osteopetrosis. Orphanet journal of rare diseases. 4: 5. <a href="https://doi.org/10.1186/1750-1172-4-5">doi:10.1186/1750-1172-4-5</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/19232111">Pubmed</a> <span class="ref_v4"></span>
6. Z. V. Maizlin. Wonders of Radiology. (2010) <a href="https://books.google.co.uk/books?vid=ISBN9781449976453">ISBN: 9781449976453</a><span class="ref_v4"></span>

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