Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations

Multicentric Osteolysis, Nodulosis, and Arthropathy (MONA) syndrome is a rare genetic skeletal dysplasia. Its diagnosis can be deceptively similar to childhood-onset genetic skeletal dysplasias and juvenile idiopathic arthritis. We aimed to report the syndrome’s clinical and radiologic features with...

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Main Authors: Hanan Elsebaie, Mohamed Abdelhafiz Mansour, Solaf M. Elsayed, Shady Mahmoud, Tamer A. El-Sobky
Format: Article
Language:English
Published: Elsevier 2021-12-01
Series:Bone Reports
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2352187221003624
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spelling doaj-7ea0175d5d2b4695bab721dfb30b4a922021-07-15T04:27:52ZengElsevierBone Reports2352-18722021-12-0115101106Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlationsHanan Elsebaie0Mohamed Abdelhafiz Mansour1Solaf M. Elsayed2Shady Mahmoud3Tamer A. El-Sobky4Department of Physical Medicine, Rheumatology and Rehabilitation, Faculty of Medicine, Ain Shams University, Cairo, EgyptDepartment of Rheumatology and Immunology, Egyptian Armed Forces, Cairo, EgyptDivision of Medical Genetics, Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo, EgyptDivision of Pediatric Orthopaedics, Department of Orthopaedic Surgery, Faculty of Medicine, Ain Shams University, Cairo, EgyptDivision of Pediatric Orthopaedics, Department of Orthopaedic Surgery, Faculty of Medicine, Ain Shams University, Cairo, Egypt; Corresponding author.Multicentric Osteolysis, Nodulosis, and Arthropathy (MONA) syndrome is a rare genetic skeletal dysplasia. Its diagnosis can be deceptively similar to childhood-onset genetic skeletal dysplasias and juvenile idiopathic arthritis. We aimed to report the syndrome’s clinical and radiologic features with emphasis on skeletal manifestations. And establish relevant phenotype-genotype correlations. We evaluated two boys, 4-and-7-years-old with MONA syndrome. Both patients had consanguineous parents. We verified the diagnosis by correlating the outcomes of clinical, radiologic and molecular analysis. We specifically evaluated the craniofacial morphology and clinical and radiographic skeletal abnormalities. We contextualized the resultant phenotype-genotype correlations to publications on MONA and its differential diagnosis. Skeletal manifestations were the presenting symptoms and mostly restricted to hands and feet in terms of fixed extension deformity of the metacarpophalangeal and flexion deformity of the interphalangeal joints with extension deformity of big toes. There were arthritic symptoms in the older patient especially of the wrists and minute pathologic fractures. The skeletal radiographs showed osteopenia/dysplastic changes of hands and feet. Both patients had variants in the matrix metalloproteinase2 gene which conformed to phenotype of previously reported literature in one patient while the other had a novel variant which conformed to MONA phenotype. Craniofacial abnormalities were present. However, minimal extra-skeletal manifestations. Overall, there is an emerging distinctive skeletal pattern of involvement in terms of both clinical and radiographic features. This includes age of onset and location of presenting skeletal manifestations, chronological order of joint affection, longitudinal disease progression, specifics of skeletal radiographic pathology and craniofacial features. Nevertheless, physicians are cautioned against differential diagnosis of similar genetic skeletal dysplasias and juvenile idiopathic arthritis.http://www.sciencedirect.com/science/article/pii/S2352187221003624Torg-Winchester syndromeMONA syndromeMMP2 gene mutationsFrank-Ter Haar syndromeJuvenile idiopathic arthritisChildhood osteoporosis
collection DOAJ
language English
format Article
sources DOAJ
author Hanan Elsebaie
Mohamed Abdelhafiz Mansour
Solaf M. Elsayed
Shady Mahmoud
Tamer A. El-Sobky
spellingShingle Hanan Elsebaie
Mohamed Abdelhafiz Mansour
Solaf M. Elsayed
Shady Mahmoud
Tamer A. El-Sobky
Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations
Bone Reports
Torg-Winchester syndrome
MONA syndrome
MMP2 gene mutations
Frank-Ter Haar syndrome
Juvenile idiopathic arthritis
Childhood osteoporosis
author_facet Hanan Elsebaie
Mohamed Abdelhafiz Mansour
Solaf M. Elsayed
Shady Mahmoud
Tamer A. El-Sobky
author_sort Hanan Elsebaie
title Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations
title_short Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations
title_full Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations
title_fullStr Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations
title_full_unstemmed Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations
title_sort multicentric osteolysis, nodulosis, and arthropathy in two unrelated children with matrix metalloproteinase 2 variants: genetic-skeletal correlations
publisher Elsevier
series Bone Reports
issn 2352-1872
publishDate 2021-12-01
description Multicentric Osteolysis, Nodulosis, and Arthropathy (MONA) syndrome is a rare genetic skeletal dysplasia. Its diagnosis can be deceptively similar to childhood-onset genetic skeletal dysplasias and juvenile idiopathic arthritis. We aimed to report the syndrome’s clinical and radiologic features with emphasis on skeletal manifestations. And establish relevant phenotype-genotype correlations. We evaluated two boys, 4-and-7-years-old with MONA syndrome. Both patients had consanguineous parents. We verified the diagnosis by correlating the outcomes of clinical, radiologic and molecular analysis. We specifically evaluated the craniofacial morphology and clinical and radiographic skeletal abnormalities. We contextualized the resultant phenotype-genotype correlations to publications on MONA and its differential diagnosis. Skeletal manifestations were the presenting symptoms and mostly restricted to hands and feet in terms of fixed extension deformity of the metacarpophalangeal and flexion deformity of the interphalangeal joints with extension deformity of big toes. There were arthritic symptoms in the older patient especially of the wrists and minute pathologic fractures. The skeletal radiographs showed osteopenia/dysplastic changes of hands and feet. Both patients had variants in the matrix metalloproteinase2 gene which conformed to phenotype of previously reported literature in one patient while the other had a novel variant which conformed to MONA phenotype. Craniofacial abnormalities were present. However, minimal extra-skeletal manifestations. Overall, there is an emerging distinctive skeletal pattern of involvement in terms of both clinical and radiographic features. This includes age of onset and location of presenting skeletal manifestations, chronological order of joint affection, longitudinal disease progression, specifics of skeletal radiographic pathology and craniofacial features. Nevertheless, physicians are cautioned against differential diagnosis of similar genetic skeletal dysplasias and juvenile idiopathic arthritis.
topic Torg-Winchester syndrome
MONA syndrome
MMP2 gene mutations
Frank-Ter Haar syndrome
Juvenile idiopathic arthritis
Childhood osteoporosis
url http://www.sciencedirect.com/science/article/pii/S2352187221003624
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