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Spectrum of Skeletal Imaging Features in Osteopetrosis: Inheritance Pattern and Radiological Associations

Osteopetrosis (from the Greek “osteo”: bone; “petrosis”: stone) is a clinically and genetically heterogeneous group of rare diseases of the skeleton, sharing the same main characteristic of an abnormally increased bone density. Dense bones in radiological studies are considered the hallmark of these...

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Autores principales: Spinnato, Paolo, Pedrini, Elena, Petrera, Miriana Rosaria, Zarantonello, Paola, Trisolino, Giovanni, Sangiorgi, Luca, Carpenzano, Maria, Crombé, Amandine, Tetta, Cecilia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9689876/
https://www.ncbi.nlm.nih.gov/pubmed/36360203
http://dx.doi.org/10.3390/genes13111965
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author Spinnato, Paolo
Pedrini, Elena
Petrera, Miriana Rosaria
Zarantonello, Paola
Trisolino, Giovanni
Sangiorgi, Luca
Carpenzano, Maria
Crombé, Amandine
Tetta, Cecilia
author_facet Spinnato, Paolo
Pedrini, Elena
Petrera, Miriana Rosaria
Zarantonello, Paola
Trisolino, Giovanni
Sangiorgi, Luca
Carpenzano, Maria
Crombé, Amandine
Tetta, Cecilia
author_sort Spinnato, Paolo
collection PubMed
description Osteopetrosis (from the Greek “osteo”: bone; “petrosis”: stone) is a clinically and genetically heterogeneous group of rare diseases of the skeleton, sharing the same main characteristic of an abnormally increased bone density. Dense bones in radiological studies are considered the hallmark of these diseases, and the reason for the common term used: “Marble bone disease”. Interestingly, a radiologist, Dr. Albers-Schonberg, described this disease for the first time in Germany in 1904. Indeed, radiology has a key role in the clinical diagnosis of osteopetrosis and is fundamental in assessing the disease severity and complications, as well as in follow-up controls and the evaluation of the response to treatment. Osteopetrosis includes a broad spectrum of genetic mutations with very different clinical symptoms, age onset, and prognosis (from mild to severe). This diversity translates into different imaging patterns related to specific mutations, and different disease severity. The main recognized types of osteopetrosis are the infantile malignant forms with autosomal recessive transmission (ARO—including the rarer X-linked recessive form); the intermediate autosomal recessive form (IAO); and the autosomal dominant ones ADO, type I, and type II, the latter being called ‘Albers-Schonberg’ disease. Imaging features may change among those distinct types with different patterns, severities, skeletal segment involvement, and speeds of progression. There are several classical and well-recognized radiological features related to osteopetrosis: increased bone density (all types with different degrees of severity assuming a ‘Marble Bone Appearance’ especially in the ARO type), different metaphyseal alterations/enlargement including the so-called ‘Erlenmeyer flask deformity’ (particularly of femoral bones, more frequent in ADO type 2, and less frequent in ARO and IAO), ‘bone in bone’ appearance (more frequent in ADO type 2, less frequent in ARO and IAO), and ‘rugger-jersey spine’ appearance (typical of ADO type 2). After conducting an overview of the epidemiological and clinical characteristic of the disease, this review article aims at summarizing the main radiological features found in different forms of osteopetrosis together with their inheritance pattern.
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spelling pubmed-96898762022-11-25 Spectrum of Skeletal Imaging Features in Osteopetrosis: Inheritance Pattern and Radiological Associations Spinnato, Paolo Pedrini, Elena Petrera, Miriana Rosaria Zarantonello, Paola Trisolino, Giovanni Sangiorgi, Luca Carpenzano, Maria Crombé, Amandine Tetta, Cecilia Genes (Basel) Review Osteopetrosis (from the Greek “osteo”: bone; “petrosis”: stone) is a clinically and genetically heterogeneous group of rare diseases of the skeleton, sharing the same main characteristic of an abnormally increased bone density. Dense bones in radiological studies are considered the hallmark of these diseases, and the reason for the common term used: “Marble bone disease”. Interestingly, a radiologist, Dr. Albers-Schonberg, described this disease for the first time in Germany in 1904. Indeed, radiology has a key role in the clinical diagnosis of osteopetrosis and is fundamental in assessing the disease severity and complications, as well as in follow-up controls and the evaluation of the response to treatment. Osteopetrosis includes a broad spectrum of genetic mutations with very different clinical symptoms, age onset, and prognosis (from mild to severe). This diversity translates into different imaging patterns related to specific mutations, and different disease severity. The main recognized types of osteopetrosis are the infantile malignant forms with autosomal recessive transmission (ARO—including the rarer X-linked recessive form); the intermediate autosomal recessive form (IAO); and the autosomal dominant ones ADO, type I, and type II, the latter being called ‘Albers-Schonberg’ disease. Imaging features may change among those distinct types with different patterns, severities, skeletal segment involvement, and speeds of progression. There are several classical and well-recognized radiological features related to osteopetrosis: increased bone density (all types with different degrees of severity assuming a ‘Marble Bone Appearance’ especially in the ARO type), different metaphyseal alterations/enlargement including the so-called ‘Erlenmeyer flask deformity’ (particularly of femoral bones, more frequent in ADO type 2, and less frequent in ARO and IAO), ‘bone in bone’ appearance (more frequent in ADO type 2, less frequent in ARO and IAO), and ‘rugger-jersey spine’ appearance (typical of ADO type 2). After conducting an overview of the epidemiological and clinical characteristic of the disease, this review article aims at summarizing the main radiological features found in different forms of osteopetrosis together with their inheritance pattern. MDPI 2022-10-28 /pmc/articles/PMC9689876/ /pubmed/36360203 http://dx.doi.org/10.3390/genes13111965 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/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 (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Spinnato, Paolo
Pedrini, Elena
Petrera, Miriana Rosaria
Zarantonello, Paola
Trisolino, Giovanni
Sangiorgi, Luca
Carpenzano, Maria
Crombé, Amandine
Tetta, Cecilia
Spectrum of Skeletal Imaging Features in Osteopetrosis: Inheritance Pattern and Radiological Associations
title Spectrum of Skeletal Imaging Features in Osteopetrosis: Inheritance Pattern and Radiological Associations
title_full Spectrum of Skeletal Imaging Features in Osteopetrosis: Inheritance Pattern and Radiological Associations
title_fullStr Spectrum of Skeletal Imaging Features in Osteopetrosis: Inheritance Pattern and Radiological Associations
title_full_unstemmed Spectrum of Skeletal Imaging Features in Osteopetrosis: Inheritance Pattern and Radiological Associations
title_short Spectrum of Skeletal Imaging Features in Osteopetrosis: Inheritance Pattern and Radiological Associations
title_sort spectrum of skeletal imaging features in osteopetrosis: inheritance pattern and radiological associations
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9689876/
https://www.ncbi.nlm.nih.gov/pubmed/36360203
http://dx.doi.org/10.3390/genes13111965
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