Cherubism

Cherubism

cherubism 

angel wings image from New Medical Terms

cherubs from Raphael’s painting of the Madonna and Child in the Sistine Chapel

ENT, PEDIATRICS

An autosomal dominant (OMIM:118400) condition with 100% penetration, characterised by a cherub-like enlargement of the lower face, which begins by age 4 and progresses until the late teens. It may be first recognised at age 5, when the child is obviously not losing the baby fat in his face.

Clinical findings Puffed cheeks, agenesis of permanent teeth, dental dysgenesis, exophthalmos, progressive, bilateral bone expansion, submandibular lymphadenopathy–which exacerbates the cherub-like appearance

Imaging Bilateral multilocular cystic (“bubbly”) changes of bone at the mandibular angle and in the maxilla and often in the anterior ends of the ribs. 

cherubism image from New Medical Terms

cherubism (clinical and radiologic findings)

Molecular pathology Defects in SH3BP2, which encodes a protein involved in signal transduction, cause cherubism.

Cultural footnote The cherubs seen above are in the Sistine Madonna (Madonna di San Sisto) an altarpiece oil painting by Raphael Sanzio commissioned in 1512 by Pope Julius II for the church of San Sisto in Piacenza. It is now in the permanent collection of the Gemäldegalerie Alte Meister in Dresden, Germany

Synonyms Cherubism syndrome, familial fibrous dysplasia of jaw, familial multilocular cystic disease of the jaw, familial multilocular cystic jaw disease, hereditary fibrous dysplasia of the jaws, Jones syndrome, mandibular cystic dysplasia 

Reference http://www.omim.org/entry/118400

http://www.uniprot.org/uniprot/P78314

 

By |2018-08-19T12:53:08+00:00August 1st, 2018|Classic Medicine Category|Comments Off on Cherubism

About the Author:

Born in Ohio, raised in Jersey (the state, not the island), med school in Spain (Tenerife) and Berlin (West) at Klinikum Steglitz. I’ve had undistinguished career in pathology; I’m not currently practicing, largely because I must get this albatross from my neck. I spent some time practicing in the UK. I’m desperate to get back into pathology, but have accepted that of the 7 billion people on the planet, I’m the only one insane enough to write a medical dictionary–which may explain why a new one hasn’t been written in over 75 years.