Purpose: Multiple hereditary exostoses (MHE) is a rare autosomal dominant condition that results in the growth of cartilage-capped prominences that often cause nerve compression and injury. Many patients suffer from continued and debilitating chronic pain which leads some to advocate avoiding surgical intervention in patients with multiple hereditary exostoses. We present a review of the literature as well as a case series at our institution in order to evaluate the role of surgery in multiple hereditary exostoses.
Methods: We searched the literature for reports of patients with multiple hereditary exostoses undergoing surgery for nerve compression. We then reviewed the recent experience at our institution which revealed two patients with multiple hereditary exostoses.
Results: Our literature search revealed that there have been several case series and retrospective analyses in the literature that assess the benefit of surgery in the case of nerve compression caused by exostoses. The majority of these reports are of solitary exostoses. Few reports expand on the role of surgery in patients with multiple hereditary exostoses suffering from nerve compressions secondary to bony overgrowth. A recent review of the experience at our institution revealed two patients with multiple hereditary exostoses who together underwent a total of four surgeries for treatment of peripheral nerve compression resulting in pain or weakness. Postoperative evaluation revealed improvement in pain and/or motor strength following each operation.
Conclusion: Based on our experience and literature review, we advocate that nerve compression in selected individuals with multiple hereditary exostoses that results in neurological injury should be considered for nerve decompression and resection of the offending exostosis.
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http://dx.doi.org/10.1007/s00381-016-3166-3 | DOI Listing |
Radiol Bras
January 2025
Universidade Federal de Juiz de Fora (UFJF), Juiz de Fora, MG, Brazil.
Sclerosing bone dysplasias encompass abnormalities in bone density, divided into hereditary and nonhereditary forms. Primarily diagnosed through radiography, they are often incidental findings. Among the hereditary forms, the following stand out: osteopetrosis, osteopoikilosis, multiple diaphyseal sclerosis (ribbing disease), osteopathia striata, and Camurati-Engelmann disease.
View Article and Find Full Text PDFAsian J Transfus Sci
September 2022
Department of Zoology, CCS HAU, Hisar, Haryana, India.
Context: Hemoglobinopathies are the most common heterogeneous group of monogenetic disorder in the world and its prevalence varies with geographical regions. India is developing country and many studies show a significant burden of hemoglobinopathies in India.
Aims: The aim of the present study was to check the prevalence of various hemoglobinopathies in anemic subjects using high-performance liquid chromatography (HPLC) method in Pune region which has multiple ethnic population groups from all parts of India.
Ann Endocrinol (Paris)
January 2025
Univ. Lille, Inserm, CHU Lille, U1286 - Infinite, F-59045 Lille Cedex, Department of Biochemistry and Molecular Biology, Lille University Hospital, Lille, France. Electronic address:
Around 10% of cases of primary hyperparathyroidism are thought to be genetic in origin, some of which are part of a syndromic form such as multiple endocrine neoplasia types 1, 2A or 4 or hyperparathyroidism-jaw tumor syndrome, while the remainder are cases of isolated familial primary hyperparathyroidism. Recognition of these genetic forms is important to ensure appropriate management according to the gene and type of variant involved, but screening for a genetic cause is not justified in all patients presenting primary hyperparathyroidism. The indications for genetic analysis have made it possible to propose a decision tree that takes into account whether the presentation is familial or sporadic, syndromic or isolated, patient age, and histopathological type of parathyroid lesion.
View Article and Find Full Text PDFApolipoprotein E (APOE) has multiple functions in metabolism and immunoregulation. Its common germline variants APOE2, APOE3 and APOE4 give rise to three functionally distinct gene products. Previous studies reported yin-yang roles of APOE2 and APOE4 in immunological processes, but their effects in hematopoietic stem cell transplantation (HSCT) have never been studied.
View Article and Find Full Text PDFGenome Med
January 2025
Hereditary Cancer Group, Oncobell Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Av. Gran Via 199-203, L'Hospitalet del Llobregat, 08908, Spain.
Background: Germline heterozygous pathogenic variants (PVs) in TP53 cause Li-Fraumeni syndrome (LFS), a condition associated with increased risk of multiple tumor types. As the associated cancer risks were refined over time, clinical criteria also evolved to optimize diagnostic yield. The implementation of multi-gene panel germline testing in different clinical settings has led to the identification of TP53 PV carriers outside the classic LFS-associated cancer phenotypes, leading to a broader cancer phenotypic redefinition and to the renaming of the condition as "heritable TP53-related cancer syndrome" (hTP53rc).
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