A child with a novel ACAN missense variant mimicking a septic arthritis

Abstract Heterozygous mutations of the ACAN gene have been associated with a broad spectrum of non-lethal skeletal dysplasias, called Aggrecanopathies. We report a case of a child with severe inflammatory elbow involvement mimicking septic arthritis who carried the new ACAN missense variant c.6970 T...

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Main Authors:	Angelo Florio, Riccardo Papa, Roberta Caorsi, Alessandro Consolaro, Roberto Gastaldi, Marco Gattorno, Paolo Picco
Format:	Article
Language:	English
Published:	BMC 2019-11-01
Series:	Italian Journal of Pediatrics
Subjects:	Pediatric rheumatology Arthritis Osteochondritis dissecans ACAN Aggrecanopathy
Online Access:	http://link.springer.com/article/10.1186/s13052-019-0719-6

id	doaj-23d7151bef134996b5d8fa77ab79cdb0
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spelling	doaj-23d7151bef134996b5d8fa77ab79cdb02020-11-25T04:03:18ZengBMCItalian Journal of Pediatrics1824-72882019-11-014511310.1186/s13052-019-0719-6A child with a novel ACAN missense variant mimicking a septic arthritisAngelo Florio0Riccardo Papa1Roberta Caorsi2Alessandro Consolaro3Roberto Gastaldi4Marco Gattorno5Paolo Picco6Pediatric Rheumatology Clinic, IRCCS Istituto Giannina GasliniPediatric Rheumatology Clinic, IRCCS Istituto Giannina GasliniPediatric Rheumatology Clinic, IRCCS Istituto Giannina GasliniPediatric Rheumatology Clinic, IRCCS Istituto Giannina GasliniPediatric Endocrinology Clinic, IRCCS Istituto Giannina GasliniPediatric Rheumatology Clinic, IRCCS Istituto Giannina GasliniPediatric Rheumatology Clinic, IRCCS Istituto Giannina GasliniAbstract Heterozygous mutations of the ACAN gene have been associated with a broad spectrum of non-lethal skeletal dysplasias, called Aggrecanopathies. We report a case of a child with severe inflammatory elbow involvement mimicking septic arthritis who carried the new ACAN missense variant c.6970 T > C, p.Trp2324Arg. The comprehensive clinical evaluation of the patient and his family, focused on the associated clinical features (facial dysmorphisms, short stature, brachydactily), led us to suspect a hereditary condition. Our findings suggest that Aggrecanopathies should be considered in children with familial short stature, poor growth spurt and joint involvement.http://link.springer.com/article/10.1186/s13052-019-0719-6Pediatric rheumatologyArthritisOsteochondritis dissecansACANAggrecanopathy
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Angelo Florio Riccardo Papa Roberta Caorsi Alessandro Consolaro Roberto Gastaldi Marco Gattorno Paolo Picco
spellingShingle	Angelo Florio Riccardo Papa Roberta Caorsi Alessandro Consolaro Roberto Gastaldi Marco Gattorno Paolo Picco A child with a novel ACAN missense variant mimicking a septic arthritis Italian Journal of Pediatrics Pediatric rheumatology Arthritis Osteochondritis dissecans ACAN Aggrecanopathy
author_facet	Angelo Florio Riccardo Papa Roberta Caorsi Alessandro Consolaro Roberto Gastaldi Marco Gattorno Paolo Picco
author_sort	Angelo Florio
title	A child with a novel ACAN missense variant mimicking a septic arthritis
title_short	A child with a novel ACAN missense variant mimicking a septic arthritis
title_full	A child with a novel ACAN missense variant mimicking a septic arthritis
title_fullStr	A child with a novel ACAN missense variant mimicking a septic arthritis
title_full_unstemmed	A child with a novel ACAN missense variant mimicking a septic arthritis
title_sort	child with a novel acan missense variant mimicking a septic arthritis
publisher	BMC
series	Italian Journal of Pediatrics
issn	1824-7288
publishDate	2019-11-01
description	Abstract Heterozygous mutations of the ACAN gene have been associated with a broad spectrum of non-lethal skeletal dysplasias, called Aggrecanopathies. We report a case of a child with severe inflammatory elbow involvement mimicking septic arthritis who carried the new ACAN missense variant c.6970 T > C, p.Trp2324Arg. The comprehensive clinical evaluation of the patient and his family, focused on the associated clinical features (facial dysmorphisms, short stature, brachydactily), led us to suspect a hereditary condition. Our findings suggest that Aggrecanopathies should be considered in children with familial short stature, poor growth spurt and joint involvement.
topic	Pediatric rheumatology Arthritis Osteochondritis dissecans ACAN Aggrecanopathy
url	http://link.springer.com/article/10.1186/s13052-019-0719-6
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A child with a novel ACAN missense variant mimicking a septic arthritis

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