Albers-Schönberg disease

Description

Albers-Schönberg disease is the most common form of osteopetrosis. Also known as autosomal dominant osteopetrosis type II (ADO II)

Osteopetrosis is a group of conditions characterized by increased skeletal mass due to impaired bone and cartilage resorption

History

• How did the eponym come to be

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

Controversies

• Did they first describe or popularise or plagiarise?

References

• Albers-Schönberg H. Röntgenbilder einer seltenen Knochenerkrankung. Münchener medizinische Wochenschrift 1904;51:365-368
• 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
• 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. [PMID 11741829]