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Rheumatoid Arthritis and CLOVES Syndrome: A Tricky Diagnosis

The PI3K/AKT/mTOR signaling pathway is significantly activated in rheumatoid arthritis. In addition, somatic activating mutations of the PI3K/AKT/mTOR pathway may result in PIK3CA-related overgrowth spectrum diseases, including CLOVES (Congenital Lipomatous Overgrowth, Vascular malformation, Epiderm...

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Autores principales: Damian, Laura, Lebovici, Andrei, Pamfil, Cristina, Belizna, Cristina, Vulturar, Romana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7400073/
https://www.ncbi.nlm.nih.gov/pubmed/32660056
http://dx.doi.org/10.3390/diagnostics10070467
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author Damian, Laura
Lebovici, Andrei
Pamfil, Cristina
Belizna, Cristina
Vulturar, Romana
author_facet Damian, Laura
Lebovici, Andrei
Pamfil, Cristina
Belizna, Cristina
Vulturar, Romana
author_sort Damian, Laura
collection PubMed
description The PI3K/AKT/mTOR signaling pathway is significantly activated in rheumatoid arthritis. In addition, somatic activating mutations of the PI3K/AKT/mTOR pathway may result in PIK3CA-related overgrowth spectrum diseases, including CLOVES (Congenital Lipomatous Overgrowth, Vascular malformation, Epidermal nevi, Skeletal abnormalities/Scoliosis) syndrome. We describe the case of a young female patient, with anti-citrullinated peptide antibodies-positive rheumatoid arthritis, referred for persistent finger pain and stiffness. Examination revealed discrete macrodactyly involving two fingers, scoliosis, asymmetrical calves, venectasias, a shoulder nevus and triangular feet with a “sandal gap” between two toes. These mild dysmorphic features with early-onset and the history of surgeries for thoracic lipoma and venous malformation were strongly suggestive of CLOVES syndrome. Confirmatory mutation analysis was not performed, as blood or saliva testing is not contributive for tissue-specific localized effects in the PIK3CA-related overgrowth spectrum. Nevertheless, lack of detection of a PIK3CA mutation does not exclude the diagnosis in patients fulfilling clinical criteria. Due to the patient’s wish to plan a pregnancy, therapy consisted in sulfasalazine and hydroxychloroquine, along with orthotic correction of leg length discrepancy. Overgrowth syndromes and arthritis may share common pathways. Mild macrodactyly should be differentiated from dactylitis. Diagnosing patients with minimal dysmorphic features within the PI3K-related overgrowth spectrum may help design better care strategies, in the quest for personalized medicine.
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spelling pubmed-74000732020-08-23 Rheumatoid Arthritis and CLOVES Syndrome: A Tricky Diagnosis Damian, Laura Lebovici, Andrei Pamfil, Cristina Belizna, Cristina Vulturar, Romana Diagnostics (Basel) Case Report The PI3K/AKT/mTOR signaling pathway is significantly activated in rheumatoid arthritis. In addition, somatic activating mutations of the PI3K/AKT/mTOR pathway may result in PIK3CA-related overgrowth spectrum diseases, including CLOVES (Congenital Lipomatous Overgrowth, Vascular malformation, Epidermal nevi, Skeletal abnormalities/Scoliosis) syndrome. We describe the case of a young female patient, with anti-citrullinated peptide antibodies-positive rheumatoid arthritis, referred for persistent finger pain and stiffness. Examination revealed discrete macrodactyly involving two fingers, scoliosis, asymmetrical calves, venectasias, a shoulder nevus and triangular feet with a “sandal gap” between two toes. These mild dysmorphic features with early-onset and the history of surgeries for thoracic lipoma and venous malformation were strongly suggestive of CLOVES syndrome. Confirmatory mutation analysis was not performed, as blood or saliva testing is not contributive for tissue-specific localized effects in the PIK3CA-related overgrowth spectrum. Nevertheless, lack of detection of a PIK3CA mutation does not exclude the diagnosis in patients fulfilling clinical criteria. Due to the patient’s wish to plan a pregnancy, therapy consisted in sulfasalazine and hydroxychloroquine, along with orthotic correction of leg length discrepancy. Overgrowth syndromes and arthritis may share common pathways. Mild macrodactyly should be differentiated from dactylitis. Diagnosing patients with minimal dysmorphic features within the PI3K-related overgrowth spectrum may help design better care strategies, in the quest for personalized medicine. MDPI 2020-07-09 /pmc/articles/PMC7400073/ /pubmed/32660056 http://dx.doi.org/10.3390/diagnostics10070467 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Damian, Laura
Lebovici, Andrei
Pamfil, Cristina
Belizna, Cristina
Vulturar, Romana
Rheumatoid Arthritis and CLOVES Syndrome: A Tricky Diagnosis
title Rheumatoid Arthritis and CLOVES Syndrome: A Tricky Diagnosis
title_full Rheumatoid Arthritis and CLOVES Syndrome: A Tricky Diagnosis
title_fullStr Rheumatoid Arthritis and CLOVES Syndrome: A Tricky Diagnosis
title_full_unstemmed Rheumatoid Arthritis and CLOVES Syndrome: A Tricky Diagnosis
title_short Rheumatoid Arthritis and CLOVES Syndrome: A Tricky Diagnosis
title_sort rheumatoid arthritis and cloves syndrome: a tricky diagnosis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7400073/
https://www.ncbi.nlm.nih.gov/pubmed/32660056
http://dx.doi.org/10.3390/diagnostics10070467
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