Albers-Schönberg disease
Description
Albers-Schönberg disease is the most common form of osteopetrosis, a group of conditions characterized by increased skeletal mass due to impaired bone and cartilage resorption.
In osteopetrosis there is a reduced osteoclast function which results in bones becoming more dense. However, there is also an alteration of the bones internal architecture, which makes them weaker and more brittle. This results in dense, sclerotic, fragile bones that fracture easily.
Albers-Schönberg disease is now termed autosomal dominant osteopetrosis type II (ADO II). ADO II is often termed ‘benign’ or ‘adult’ osteopetrosis as most patients survive into adulthood and is less severe than the autosomal recessive variant.
Classification of autosomal dominant osteopetrosis
- Type I: pronounced osteosclerosis of cranial vault; cranial nerve compression with deafness and/or blindness, and cranial nerve palsies.
- Type II: end plate thickening of vertebrae (sandwich vertebra or rugger-jersey spine) and endobones (“bone-within-bone” appearance) in the pelvis.
Patients with ADO II have an increased fracture rate and hepatosplenomegaly from extramedullary haematopoiesis due to bone red marrow replacement.
Treatment is with bone marrow transplant with normalisation of bone production. Prognosis for the ADO II adult variant is generally good with a reasonable life expectancy.
Radiographs of the spine (A) and pelvis (B) of a 61-year-old man with ADO II. The segmentary osteosclerosis is characteristic of ADO II. Vertebral endplates are prominent (‘rugger jersey spine’), and concentric arcs of sclerosis are seen within in the iliac wings (‘bone within bone’ sign). Bénichou 2001
History of Albers-Schönberg disease
1904 – Heinrich Albers-Schönberg (1865-1921) published radiographs of a ‘rare bone disease‘ (seltenen Knochenerkrankung) which he had recognised in a 26-year old male with generalised skeletal sclerosis and multiple fractures.
Original
English
Herr P., 26 Jahre alt, Kaufmann, ist das einzige Kind seiner Eltern, hereditär scheint er in keiner Weise belastet.
Infolge zweier verhältnismässig unbedeutender Unfälle hatte er beide Oberschenkel dicht unter dem Trochanter minor gebrochen.
Während man bei normalen Aufnahmen die Corticalis und Spongiosa gut differenzieren kann, erschien im vorliegenden Falle der Oberschenkel in seiner ganzen Ausdehnung wie aus Marmor gebildet ohne jede Strukturzeichnung und nur mit einer Andeutung der Markhöhle.
Es handelt sich im vorliegenden Falle um eine gleichmäßige Veränderung des gesamten Skelettes, welche sich dadurch dokumentiert, dass die Spongiosa zum grossen Teil durch kompakte Knochensubstanz ersetzt worden ist, ferner, dass aller Wahrscheinlichkeit nach der Kalkgehalt der Knochen ausserordentlich zugenommen hat, wodurch seine Durchlässigkeit für Röntgenstrahlen fast ganz aufgehoben ist
Meiner Ansicht nach handelt es sich hier um eine seltene allgemeine Knochenerkrankung, welche klinisch dadurch von Bedeutung ist, dass die Knochen ausserordentlich brüchig werden.
Mr. P, 26 years old, is the only child of his parents, he does not appear to be affected from hereditary matters. Following two insignificant accidents, he had broken both thighs directly under the lesser trochanter
Whilst one may differentiate the corticalis and the spongiosa well in a normal projection, in this case the thigh appeared as though made of marble throughout its entire length, without any structural demarcations, and only a hint of the bone marrow.
This case presents as a uniform change throughout the entire skeleton, which is characterized by the replacement of the spongiosa by compact bony substance; in all likelihood that the calcium content of the bone has increased considerably, whereby its penetrance by X-rays is almost fully effaced.
In my opinion, this is a rare, generalized bone disease, which is clinically important due to the high fragility of the bones.
Albers-Schönberg. Röntgenbilder einer seltenen Knochenerkrankung – Tafel XVII. 1907
1921 – Fritz Schulze first used the eponym “Albers-Schönberg” together with the term “Marble Bones (Marmorknochen)” in a description of a similar patient. Thereafter the eponym was in general use for a group of conditions characterised by increased radiographic density of bone
1926 – Rolla George Karshner (1888-1952) introduced the overarching term “osteopetrosis”.
Osteopetrosis is an hereditary disease, essentially a disturbance of the mesenchyme, manifesting itself primarily by extraordinary thickness of the cortical portion of the osseous system at the expense of the medullary portion, and giving rise to a diversity of secondary characteristics such as multiple fractures, epiphyseal deformities, physical underdevelopment, hydrocephalus, optic atrophy, imperfect dentition, anemia, various leucemic states, and metaplasia of bone marrow elements leading to enlargement of the liver, spleen and lymph nodes.
Karschner 1926
2001 – Bénichou et al mapped autosomal dominant osteopetrosis type II (Albers-Schönberg disease) to chromosome 16p13.3. Cleiren et al reported seven different mutations in the gene encoding the ClCN7 chloride channel in the 12 ADO II families they analysed.
Associated Persons
- Heinrich Albers-Schönberg (1865-1921)
Alternative names
- Marble bone disease or ‘marmorknochenkrankheit’; ‘morbo marmoreo’; ‘os de marbre’;
- Morbus Albers-Schönberg
- Archaic: Maladie des os d’ivoire; congenital osteosclerosis; diffuse osteosclerosis; osteosclerosis fragilis generalisata
References
Original articles
- Albers-Schönberg H. Röntgenbilder einer seltenen Knochenerkrankung. Münchener medizinische Wochenschrift 1904; 51(1): 365
- Albers-Schönberg H. Eine bisher nicht beschriebene Allgemeinerkrankung des Skelettes im Röntgenbild. Fortschritte auf dem Gebiete der Röntgenstrahlen und der Nuklearmedizin. 1907;11:261-263
- Schulze F. Das Wesen des Krankheitsbildes der “Marmorknochen” (Albers-Schönberg). Archiv Für Klinische Chirurgie 1921; 118: 411-438
- Karshner RG. Osteopetrosis. The American journal of roentgenology and radium therapy. 1926; 16(5): 405-419
Review articles
- Beighton P, Beighton G. Heinrich Albers-Schönberg. In: The Man Behind the Syndrome. Springer 1986: 2-3
- Bénichou O, Cleiren E, Gram J, Bollerslev J, de Vernejoul MC, Van Hul W. Mapping of autosomal dominant osteopetrosis type II (Albers-Schönberg disease) to chromosome 16p13.3. Am J Hum Genet. 2001 Sep;69(3):647-54
- Cleiren E et al. Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum Mol Genet. 2001 Dec 1;10(25):2861-7.
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Resident medical officer in emergency medicine MB ChB (Uni. Dundee) MRCS Ed. Avid traveller, yoga teacher, polylinguist with a passion for discovering cultures.
