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. 

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.

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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