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Pseudo-rheumatic manifestations of limping: Camptodactyly–arthropathy–coxa vara–pericarditis syndrome: Single case report and review of the literature

Camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome is a rare genetic disease characterized by tetrad camptodactyly, noninflammatory arthropathy, coxa vara deformity, and pericardial effusion. Arthropathy typically affects large joints and presents with joint swelling in the absence of...

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Autores principales: Maniscalco, Valerio, Pizzetti, Camilla, Marrani, Edoardo, Perrone, Anna, Maccora, Ilaria, Pagnini, Ilaria, Artuso, Rosangela, Simonini, Gabriele, Mastrolia, Maria Vincenza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9760854/
https://www.ncbi.nlm.nih.gov/pubmed/36545657
http://dx.doi.org/10.3389/fped.2022.981938
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author Maniscalco, Valerio
Pizzetti, Camilla
Marrani, Edoardo
Perrone, Anna
Maccora, Ilaria
Pagnini, Ilaria
Artuso, Rosangela
Simonini, Gabriele
Mastrolia, Maria Vincenza
author_facet Maniscalco, Valerio
Pizzetti, Camilla
Marrani, Edoardo
Perrone, Anna
Maccora, Ilaria
Pagnini, Ilaria
Artuso, Rosangela
Simonini, Gabriele
Mastrolia, Maria Vincenza
author_sort Maniscalco, Valerio
collection PubMed
description Camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome is a rare genetic disease characterized by tetrad camptodactyly, noninflammatory arthropathy, coxa vara deformity, and pericardial effusion. Arthropathy typically affects large joints and presents with joint swelling in the absence of other signs of inflammation. We described the case of a girl affected by CACP syndrome caused by a novel compound heterozygous variant in proteoglycan 4 gene (c.2831_2832insT; c.3892C > T) and associated with temporomandibular involvement. The patient received treatment with intra-articular hyaluronic acid injections, which presented rapid but transient improvements of pain and range of motion. A literature review of previously reported CACP patients has been performed. Of the patients. 69.2% (101 out of 146) were Middle Eastern, and 65.7% (96) were consanguineous. The median age of onset was 24 months (interquartile range of 12–36 months), and median age of diagnosis was 96 months (interquartile range of 48–156 months). Arthropathy was always present, mainly involving hips (95.2%), knees (92.4%), wrists (87.7%), elbows (79.5%), and ankles (57.5%). Camptodactyly and pericardial effusion were described, respectively, in 97.3% (142) and 15.1% (22) of patients. The main radiological findings were coxa vara (95.2%), femoral changes (64.4%), intraosseus cysts (14.4%), and bone erosion (5%). Of the patients, 32.9% (48) had received a previous juvenile idiopathic arthritis diagnosis. CACP syndrome can be easily misdiagnosed with juvenile idiopathic arthritis. A prolonged lack of response to immunosuppressive therapy associated with typical clinical and radiological features should prompt consideration of this rare syndrome.
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spelling pubmed-97608542022-12-20 Pseudo-rheumatic manifestations of limping: Camptodactyly–arthropathy–coxa vara–pericarditis syndrome: Single case report and review of the literature Maniscalco, Valerio Pizzetti, Camilla Marrani, Edoardo Perrone, Anna Maccora, Ilaria Pagnini, Ilaria Artuso, Rosangela Simonini, Gabriele Mastrolia, Maria Vincenza Front Pediatr Pediatrics Camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome is a rare genetic disease characterized by tetrad camptodactyly, noninflammatory arthropathy, coxa vara deformity, and pericardial effusion. Arthropathy typically affects large joints and presents with joint swelling in the absence of other signs of inflammation. We described the case of a girl affected by CACP syndrome caused by a novel compound heterozygous variant in proteoglycan 4 gene (c.2831_2832insT; c.3892C > T) and associated with temporomandibular involvement. The patient received treatment with intra-articular hyaluronic acid injections, which presented rapid but transient improvements of pain and range of motion. A literature review of previously reported CACP patients has been performed. Of the patients. 69.2% (101 out of 146) were Middle Eastern, and 65.7% (96) were consanguineous. The median age of onset was 24 months (interquartile range of 12–36 months), and median age of diagnosis was 96 months (interquartile range of 48–156 months). Arthropathy was always present, mainly involving hips (95.2%), knees (92.4%), wrists (87.7%), elbows (79.5%), and ankles (57.5%). Camptodactyly and pericardial effusion were described, respectively, in 97.3% (142) and 15.1% (22) of patients. The main radiological findings were coxa vara (95.2%), femoral changes (64.4%), intraosseus cysts (14.4%), and bone erosion (5%). Of the patients, 32.9% (48) had received a previous juvenile idiopathic arthritis diagnosis. CACP syndrome can be easily misdiagnosed with juvenile idiopathic arthritis. A prolonged lack of response to immunosuppressive therapy associated with typical clinical and radiological features should prompt consideration of this rare syndrome. Frontiers Media S.A. 2022-12-05 /pmc/articles/PMC9760854/ /pubmed/36545657 http://dx.doi.org/10.3389/fped.2022.981938 Text en © 2022 Maniscalco, Pizzetti, Marrani, Perrone, Maccora, Pagnini, Artuso, Simonini and Mastrolia. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (https://creativecommons.org/licenses/by/4.0/) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Maniscalco, Valerio
Pizzetti, Camilla
Marrani, Edoardo
Perrone, Anna
Maccora, Ilaria
Pagnini, Ilaria
Artuso, Rosangela
Simonini, Gabriele
Mastrolia, Maria Vincenza
Pseudo-rheumatic manifestations of limping: Camptodactyly–arthropathy–coxa vara–pericarditis syndrome: Single case report and review of the literature
title Pseudo-rheumatic manifestations of limping: Camptodactyly–arthropathy–coxa vara–pericarditis syndrome: Single case report and review of the literature
title_full Pseudo-rheumatic manifestations of limping: Camptodactyly–arthropathy–coxa vara–pericarditis syndrome: Single case report and review of the literature
title_fullStr Pseudo-rheumatic manifestations of limping: Camptodactyly–arthropathy–coxa vara–pericarditis syndrome: Single case report and review of the literature
title_full_unstemmed Pseudo-rheumatic manifestations of limping: Camptodactyly–arthropathy–coxa vara–pericarditis syndrome: Single case report and review of the literature
title_short Pseudo-rheumatic manifestations of limping: Camptodactyly–arthropathy–coxa vara–pericarditis syndrome: Single case report and review of the literature
title_sort pseudo-rheumatic manifestations of limping: camptodactyly–arthropathy–coxa vara–pericarditis syndrome: single case report and review of the literature
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9760854/
https://www.ncbi.nlm.nih.gov/pubmed/36545657
http://dx.doi.org/10.3389/fped.2022.981938
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