Van Buchem Syndrome

Classification according to ICD-10
M85.2	Hyperostosis of the skull
ICD-10 online (WHO version 2019)

The Van Buchem syndrome is a congenital skeletal dysplasia with hyperplasia of the long bones and the skull -Kalotte.

Synonyms are: Van Buchem's disease , van Buchem's disease , sclerosteosis , Latin hyperostosis corticalis generalisata familiaris , endosteal hyperostosis type van Buchem

The name refers to the first description from 1955 by the Dutch internist Francis Steven Peter van Buchem and colleagues.

distribution

Inheritance is autosomal - recessive .

Cause and classification

A distinction is currently made according to the underlying genetic change:

• Type I ( Hyperostosis corticalis generalisata ; Van Buchem Disease; Hyperphosphatasemia tarda; Autosomal recessive endosteal hyperostosis) with mutations in the SOST gene at location 17q21.31
• Type II (VBCH2) with mutations in the LRP5 gene at location 11q13.2.

Clinical manifestations

Diagnostic criteria are:

• Increasing hyperplasia of the lower jaw that begins in childhood , often also widening of the nose and swelling of the forehead
• Hyperostosis of the skull base with failure of cranial nerves

diagnosis

The x-ray shows thickening and sclerosis of the skullcap and base of the skull, endostosis of the long tubular bones , and slight irregularity of the cortical border.

literature

• RH Owen: Van Buchem's disease (hyperostosis corticalis generalisata) In: The British journal of radiology. Vol. 49, No. 578, February 1976, pp. 126-132, doi: 10.1259 / 0007-1285-49-578-126 , PMID 181111 .
• D. Scopelliti, R. Orsini, E. Ventucci, D. Carratelli: Mallatia di Van Buchem. In: Minerva stomatologica. Vol. 48, No. 5, May 1999, pp. 227-234, PMID 10434540 .

Individual evidence

1. ↑ ^{a b} Van Buchem syndrome. In: Orphanet (Rare Disease Database).
2. ↑ ^{a b} Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
3. ^ FSP van Buchem, HN Hadders, JF Hansen, MG Woldring: Hyperostosis corticalis generalisata. Report of seven cases. In: The American journal of medicine. Vol. 33, September 1962, ISSN  0002-9343 , pp. 387-397, PMID 13924477 .
4. ↑ Hyperostosis corticalis generalisata.  In: Online Mendelian Inheritance in Man . (English)
5. ^ Van Buchem Disease, Type 2.  In: Online Mendelian Inheritance in Man . (English)

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !