ABSTRACT
Multiple Osteochondromatosis (MO, MIM 133700 & 133701), an autosomal dominant O-glycosylation disorder (EXT1/EXT2-CDG), can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature and pathogenic variants in two tumor suppressor genes, EXT1 and EXT2. In this work, we report a cross-sectional study including 35 index patients and 20 affected family members. Clinical phenotyping of all 55 affected cases was obtained, but genetic studies were performed only in 35 indexes. Of these, a total of 40% (n = 14) had a family history of MO. Clinical severity scores were class I in 34% (n:18), class II in 24.5% (n:13) and class III in 41.5% (n:22). Pathogenic variants were identified in 83% (29/35) probands. We detected 18 (62%) in EXT1 and 11 (38%) in EXT2. Patients with EXT1 variants showed a height z-score of 1.03 SD lower than those with EXT2 variants and greater clinical severity (II-III vs. I). Interestingly, three patients showed intellectual impairment, two patients showed a dual diagnosis, one Turner Syndrome and one hypochondroplasia. This study improves knowledge of MO, reporting new pathogenic variants and forwarding the worldwide collaboration necessary to promote the inclusion of patients into future biologically based therapeutics.
Subject(s)
Exostoses, Multiple Hereditary , Humans , Exostoses, Multiple Hereditary/genetics , Exostoses, Multiple Hereditary/diagnosis , Cross-Sectional Studies , N-Acetylglucosaminyltransferases/genetics , Mutation , Genetic TestingABSTRACT
Hereditary multiple osteochondromatosis is a genetic condition characterized by the appearance of numerous osteochondromas, which can cause pseudoaneurysms in rare cases. The following article describes a 15-year-old patient with a history of current massages as part of his gym routine, who arrived at the emergency department with 4 days of pain, and ecchymosis in the right popliteal region. Therefore, duplex ultrasonography and arteriography were performed, confirming the diagnosis of popliteal pseudoaneurysm, which was subsequently treated by open surgery, providing a satisfactory outcome.
ABSTRACT
INTRODUCTION: Osteochondroma is the most common benign bone tumor and usually occurs in the metaphyseal region of the long bones. Anterior cruciate ligament (ACL) tear is the most common ligament injury of the knee joint, and reconstruction of the ACL is the most commonly performed procedure in the knee joint nowadays. CASE PRESENTATION: A 26-year-old male with multiple osteochondromas around the knees, shoulders, and ankles presented with a chronic ACL injury. Reconstruction of ACL using quadrupled hamstring tendon grafts was done. Anterior drawer and Lachman tests were negative postoperatively. The Cincinnati score increased from 180 to 310 at 3-month follow-up. This is a novel case report to describe ACL injury in a case of osteochondromatosis managed by an arthroscopic ACL reconstruction. The problems faced are discussed. CONCLUSION: Our report highlights the fact that ACL tear may occur in a patient having osteochondromas around the knee. ACL reconstruction can be performed in routine fashion in such patients with particular attention to careful harvesting of grafts and tunnel placements.
ABSTRACT
We present two cases of a family with the diagnosis of multiple osteochondromatosis, which was confirmed by molecular study with nonsense in heterozygosis mutation c.1219CT, (p.Gln407Stop) in the EXT1 gene. In these cases, the Madelung deformity was presented in one patient as an uncommon finding and chondrosarcoma as a feared complication in the other case, highlighting intrafamilial variation, which is why individual and interdisciplinary evaluation is recommended. In addition, before a genetic entity should provide adequate and timely family genetic counseling to all its members.
Se presentan dos casos de una familia con diagnóstico de osteocondromatosis múltiple, el cual fue confirmado por estudio molecular con mutación sin sentido en heterocigosis c.1219CT, (p.Gln407Stop) en el gen EXT1. En el primer caso, en un paciente se presentó deformidad de Madelung como hallazgo infrecuente y en el otro caso, condrosarcoma como complicación temida, resaltando la variación intrafamiliar, por lo que se recomienda la evaluación individual e interdisciplinaria. Además, ante una entidad genética debe brindarse el adecuado y oportuno asesoramiento genético familiar a todos sus integrantes.
Subject(s)
Bone Neoplasms , Chondrosarcoma , Exostoses, Multiple Hereditary , Bone Neoplasms/genetics , Chondrosarcoma/genetics , Exostoses, Multiple Hereditary/genetics , Humans , Mutation , N-Acetylglucosaminyltransferases/geneticsABSTRACT
Resumen: Se presentan dos casos de una familia con diagnóstico de osteocondromatosis múltiple, el cual fue confirmado por estudio molecular con mutación sin sentido en heterocigosis c.1219C>T, (p.Gln407Stop) en el gen EXT1. En el primer caso, en un paciente se presentó deformidad de Madelung como hallazgo infrecuente y en el otro caso, condrosarcoma como complicación temida, resaltando la variación intrafamiliar, por lo que se recomienda la evaluación individual e interdisciplinaria. Además, ante una entidad genética debe brindarse el adecuado y oportuno asesoramiento genético familiar a todos sus integrantes.
Abstract: We present two cases of a family with the diagnosis of multiple osteochondromatosis, which was confirmed by molecular study with nonsense in heterozygosis mutation c.1219C>T, (p.Gln407Stop) in the EXT1 gene. In these cases, the Madelung deformity was presented in one patient as an uncommon finding and chondrosarcoma as a feared complication in the other case, highlighting intrafamilial variation, which is why individual and interdisciplinary evaluation is recommended. In addition, before a genetic entity should provide adequate and timely family genetic counseling to all its members.
Subject(s)
Humans , Bone Neoplasms/genetics , Exostoses, Multiple Hereditary/genetics , Chondrosarcoma/genetics , N-Acetylglucosaminyltransferases/genetics , MutationABSTRACT
El evento de dos tumores óseos primarios en estrecha relación es raro. Se presenta el caso de un paciente con tumor óseo de células gigantes al mismo tiempo que osteocondromatosis múltiple en tibia proximal, lo que no ha sido reportado antes en la literatura. Aunque el reporte histopatológico confirma la coexistencia de las dos neoplasias en el mismo segmento anatómico con un componente aneurismático agregado, el reporte de genética no demostró una asociación necesaria entre las dos neoplasias. Se precisa una investigación más extensa para discernir la existencia de un trasfondo genético común(AU)
The event of closely two-primary bone tumors is rare. A case of a patient with bone giant cell tumor while multiple osteochondromatosis in proximal tibia occurs is presented here. It has not been reported before in literature. Although the pathology report confirms the coexistence of the two neoplasms in the same anatomical aneurysmal segment with added component, the report did not demonstrate a necessary genetic association between the two neoplasms. Further investigation is needed to discriminate the existence of a common genetic background(AU)
La survenue d'une tumeur osseuse primaire en étroite relation avec une autre est assez rare. Le cas d'un patient atteint d'une tumeur osseuse à cellules géantes et d'une ostéochondromatose multiple au niveau du tibia proximal est présenté. On n'a jamais rapporté rien de pareil dans la littérature. Quoique le rapport d'histopathologie confirme la localisation de deux néoplasies dans le même segment anatomique, avec un élément anévrismal ajouté, le rapport de génétique n'a pas démontré une relation entre ces deux tumeurs. Il faut une étude plus exhaustive pour déterminer une origine génétique commune(AU)
Subject(s)
Humans , Female , Adult , Osteochondromatosis , Giant Cell Tumor of Bone , Exostoses, Multiple Hereditary/genetics , Genetic BackgroundABSTRACT
A 54-year-old man was seen in our endocrinology clinic with evidence of a limited range of motion in his left foot. He had a history of diabetes mellitus type 2 and atrial fibrillation. His family history included evidence of skeletal deformities in some of his relatives. This could imply the potential existence of a hereditary condition. It is worth noting that spontaneous mutations have been reported in some cases. A pertinent physical examination revealed a surgical scar on the patient's left knee, a hallux valgus deformity on his left foot with compromised joint function, and painless bony prominences on that same foot. The skeletal survey findings were consistent with multiple hereditary exostoses. Multiple osteochondromatosis (MO) is a rare genetic disorder associated with serious complications that may significantly affect the health related quality of life of anyone having the disorder. To prevent further complications, these patients require long-term follow-up with regular clinical and radiological examinations.
Subject(s)
Exostoses, Multiple Hereditary/diagnosis , Quality of Life , Exostoses, Multiple Hereditary/complications , Exostoses, Multiple Hereditary/pathology , Humans , Male , Middle AgedABSTRACT
OBJECTIVES: Common carious lesions owing to vomiting are not widespread in children. In this case, we aimed to report an 11-years-old male patient with common carious lesions due to repeated vomitings, chewing and eating difficulty and retarded growth with Multiple Hereditary Osteochondromatosis (MHO). CASE REPORT: An 11-years-old boy was referred to Department of Pediatric Dentistry in Faculty of Dentistry because of eating difficulty owing to common carious lesions. It was seen that the patient growth was generally retarded in extra-oral examination. Some exostoses were also present on the extremities. It was learned that he was previously diagnosed as MHO in Faculty of Medicine. Nausea and vomiting have been commonly occurring after taking of Didronat. Chewing and eating difficulty and inadequate nutrition were present because of bad oral hygiene, carious lesions and remained roots. Growth was negatively affected by malnutrition and MHO. RESULTS: Diet recommendations were given and oral hygiene behaviors were rearranged. Preventive, surgical, restorative and prosthetical dental applications were applied for dental treatments.
ABSTRACT
The hereditary multiple osteochondromatosis is a hereditary disorder characterized by gradual development of numerous osteocartilagenous masses from the metaphyseal region of long bones. The abnormality is transmitted as an autosomal dominant trait and its etiology is unknown but many theories of pathogenesis have been advanced. Four members of a family with hereditary multiple osteochondromatosis who are much shorter in height are presented with a brief review of literatures.
Subject(s)
Humans , Exostoses, Multiple HereditaryABSTRACT
Multiple osteochondromatosis is a hereditary disorder affecting the endochondral skeleton during period of growth. We have studied a family which have multiple osteochondromatosis clinically and radiologically. In this family, eight of ten members could traceable, have the lesions of multiple osteochondromatosis. The most common site of the lesions was in femur, and the next common site was in tibia, especially, near the knee joint.
