Is an association of acro-osteolysis, bone fragility, and enchondromatosis a newfound disease caused by an amplification of PTHLH? A case report

Is an association of acro-osteolysis, bone fragility, and enchondromatosis a newfound disease caused by an amplification of PTHLH? A case report

Abstract Background Acro-osteolysis (AO) refers to resorption of the distal finger and toe phalanges. It displays two patterns: (i) diffuse AO and (ii) transverse or bandlike AO. AO can be a sign of local distress (e.g. of toxic origin), but is very often a sign of a constitutional or systemic acqui...

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Bibliographic Details
Main Authors: Stéphane Echaubard, Céline Pebrel-Richard, Aurélie Chausset, Jean-Louis Kemeny, Etienne Merlin, Fanny Laffargue
Format: Article
Language:English
Published: BMC 2022-07-01
Series:Pediatric Rheumatology Online Journal
Subjects:
Acro-osteolysis
PTHLH gene
Rare disease
12p11.22p11.23 duplication
Online Access:https://doi.org/10.1186/s12969-022-00720-8

Internet

https://doi.org/10.1186/s12969-022-00720-8

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