Cherubism

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Classification according to ICD-10
K10.8 Other specified diseases of the jaw

Incl .: cherubism

ICD-10 online (WHO version 2019)
Putti with the eponymous facial features on the Sistine Madonna by Raphael

The cherubism or Cherubinismus is a hereditary bone disease that affects the upper and lower jaws and here leads to swellings.

The resulting deformation of the face with upward-pointing eyes led to the naming, as it is reminiscent of angel faces ( putti, linguistically fuzzy here referred to as cherubim ).

The first description was made by the American WA Jones in 1933.

distribution

The inheritance is autosomal dominant . The diseases are probably based on mutations in the SH3BP2 gene .

Clinical manifestations

Diagnostic criteria are:

  • Symmetrical swelling of the lower jaw, usually beginning in infancy, and later of the upper jaw as well
  • As a result, eyes seemingly looking up “skyward”
  • As a result of the overgrowth, disruption of the tooth position, constriction of nasal breathing and tongue function

diagnosis

Changes in tooth development or tooth position are usually the trigger for imaging. In the X-ray detectable multicystic cloudy and swellings of the jaw sections concerned. The more precise representation as well as any OP planning is done using cross-sectional imaging methods such as computed tomography .

Cherubism is also found in other hereditary diseases such as Noonan's syndrome , Ramon syndrome , and fragile X syndrome .

Differential diagnosis

Fibrous dysplasia is to be differentiated .

pathology

A tissue examination reveals a giant cell-containing fibrovascular tissue.

Prospect of healing

The changes begin to regress with atrophy of the alveolar processes with puberty . Often there is a need for an operative correction.

literature

  • Mathias Cohnen: Head and Neck Radiology Thieme-Verlag, Stuttgart, New York, 2012, ISBN 9783131611611

Individual evidence

  1. ↑ WS Jones: Familial multilocular cystic disease oif the jaws. 1933 In: American Journal of Cancer Vol. 17, pp. 946-950.
  2. ↑ a b c d B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9
  3. ↑ CI van Capelle, PH Hogeman, CJ van der Sijs-Bos, BG Heggelman, B. Idowu, PJ Slootweg, AR Wittkampf, AM Flanagan: Neurofibromatosis presenting with a cherubism phenotype. In: European Journal of Pediatrics. Vol. 166, No. 9, September 2007, pp. 905-909, ISSN  0340-6199 . doi : 10.1007 / s00431-006-0334-6 . PMID 17120035 .

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