OBJECTIVE: To explore the genetic basis for a pedigree affected with hereditary multiple osteochondroma (HMO). METHODS: Peripheral blood samples were collected from the proband and members of his pedigree with informed consent. Following extraction of genomic DNA, all coding exons and flanking intronic sequences (-10 bp) of the EXT1 and EXT2 genes were subjected to targeted capture and next generation sequencing (NGS). Suspected variant was verified by Sanger sequencing. RESULTS: A heterozygous nonsense variant (c.1911C>A) was found in exon 10 of the EXT1 gene in the proband and his affected father but not in a healthy sister and normal controls. The variant was classified as a pathogenic based on the guidelines of the American College of Medical Genetics and Genomics (PVS1+PM2+PP1). Bioinformatic analysis predicted that the c.1911C>A variant may be disease-causing via nonsense-mediated mRNA decay and anomalous splicing. CONCLUSION The c.1911C>A variant probably underlay the disease in this pedigree. Discovery of this variant enriched the variant spectrum of HMO.
Codon, Nonsense ; Exons/genetics* ; Exostoses, Multiple Hereditary/genetics* ; Heterozygote ; Humans ; Pedigree

OBJECTIVE: To detect EXT1 and EXT2 gene mutations in two pedigrees affected with hereditary multiple exostosis (HME). METHODS: The coding regions and exon/intron boundaries of the EXT1 and EXT2 genes were analyzed by targeted next-generation sequencing (NGS). Suspected mutations were confirmed by Sanger sequencing of the probands, their family members and 200 unrelated healthy controls. Gross deletion was confirmed by quantitative PCR (qPCR) analysis and multiple ligation-dependent probe amplification (MLPA) analysis. RESULTS: Two mutations were detected in the pedigrees, which included EXT2 gene c.337_338insG mutation in pedigree 1 and deletion of entire EXT1 in pedigree 2. Analysis of sequencing data revealed that a novel heterozygous mutation (c.337_338insG) in EXT2 gene in proband 1 and his father. The same mutation was not found among healthy family members and 200 unrelated healthy controls. As shown by NGS and MLPA analysis, proband 2 carried a heterozygous deletion of entire EXT1 gene. The same deletion was also found in her mother by qPCR. CONCLUSION Mutations of the EXT1 and EXT2 genes probably underlie the HME in both pedigrees. NGS combined with Sanger sequencing, qPCR and MLPA is effective for attaining the diagnosis.
DNA Mutational Analysis ; Exostoses, Multiple Hereditary ; genetics ; Female ; Humans ; Mutation ; N-Acetylglucosaminyltransferases ; genetics ; Pedigree

Cervical Vertebrae ; Exostoses, Multiple Hereditary ; Humans ; Spinal Cord Compression ; Spinal Osteophytosis

OBJECTIVE: To identify pathogenic variations of EXT1 and EXT2 genes in two Chinese pedigrees affected with hereditary multiple exostosis (HME). METHODS: Genomic DNA was extracted from peripheral blood samples using a phenol-chloroform method. PCR and Sanger sequencing was conducted to amplify the exons and the flanking intronic regions of the EXT1 and EXT2 genes. RESULTS: DNA sequencing has revealed a heterozygous missense variation c.812A>G (p.Tyr271Cys) in the exon 1 of EXT1 in pedigree 1, and a heterozygous frameshift variation c.1431dup (p.Ser478Leufs*43) in the exon 6 of EXT1 in the proband from pedigree 2. Both variations have co-segregated with the disease phenotype, which was also consistent with previous report. CONCLUSION Two heterozygous pathogenic variations underlying HME have been identified. The result has facilitated genetic counseling and prenatal diagnosis for the affected pedigrees.
Asian Continental Ancestry Group ; Base Sequence ; DNA Mutational Analysis ; Exostoses, Multiple Hereditary ; genetics ; pathology ; Frameshift Mutation ; Humans ; Mutation, Missense ; N-Acetylglucosaminyltransferases ; genetics ; Pedigree

No abstract available.
Exostoses ; Fingers ; Korea

BACKGROUND AND OBJECTIVES: External auditory canal osteoma is an uncommon benign lesion and represents as unilateral solitary pedunculated mass. The aim of this study is to evaluate the clinical symptoms of osteoma and its treatment outcomes over a 10-year period in a tertiary hospital. SUBJECTS AND METHOD: Eight patients underwent operation to remove an external auditory canal osteoma at Chungbuk National University Hospital from 2008 to 2017. The medical records were retrospectively reviewed with regard to clinical characteristics, size and location of osteoma, method of surgery and treatment outcomes. RESULTS: The average age of patients was 41.8 years with the male predominance of 6:2. All of the lesions in the osteoma were unilateral and solitary (average size 5.0 mm). All of the eight cases were pedunculated: in four cases, the stalks of the osteoma were found on the tympanomastoid suture line and in three cases, it was found on the tympanosquamous suture line. Four patients were asymptomatic, where the lesions were found incidentally during unrelated evaluations. No patients were found with conductive hearing loss in the pure tone audiometry. Transcanal and endaural approach were used in five and three cases, respectively. Most of the cases were removed by curettage only, except for the two who needed additional drilling. The average surgery time was 15.6 minutes. There was no postoperative complication or recurrence. CONCLUSION: The external auditory canal osteoma was mostly unilateral and solitary. The removal of osteoma in the early stage was relatively easy with no recurrence or complication.
Audiometry ; Chungcheongbuk-do ; Curettage ; Ear Canal ; Exostoses ; Hearing Loss, Conductive ; Humans ; Male ; Medical Records ; Methods ; Osteoma ; Postoperative Complications ; Recurrence ; Retrospective Studies ; Sutures ; Tertiary Care Centers

Hereditary multiple exostosis (HME) is an autosomal dominant disorder manifested by the presence of multiple osteochondromas. Although the lesions are benign in nature, exostoses are often associated with characteristic progressive skeletal deformity and displaying clinical symptoms such as mechanical irritation or impingement. We present the successful arthroscopic resection in a 24-year-old HME male with impingement syndrome and long head tendon tear of the biceps caused by osteochondroma arising from the distal clavicle.
Clavicle ; Congenital Abnormalities ; Exostoses ; Exostoses, Multiple Hereditary ; Head ; Humans ; Male ; Osteochondroma ; Shoulder Impingement Syndrome ; Shoulder ; Tears ; Tendons ; Young Adult

Although breast implants have been in clinical use for almost 6 decades and have undergone considerable development during this time, implant rupture is still a dreaded long-term complication. Some obvious external factors, such as trauma, can lead to implant rupture, but many studies have reported a high rate of “spontaneous” implant rupture. Herein, we present two cases with the aim of raising awareness of a new possible cause of “spontaneous” implant rupture: mechanical irritation by bony protrusions.
Breast Implants* ; Breast* ; Exostoses ; Female ; Mammaplasty ; Rupture* ; Silicone Elastomers

Heterotopic ossification of the xiphoid process is extremely rare, with only three cases previously reported. However, the surgical pathology for postoperative elongation of the xiphoid process after abdominal surgery has not yet been reported. We report a case of the postoperative elongation of the xiphoid process, 8 years after abdominal surgery for traumatic hemoperitoneum in a 53-year-old man. The patient underwent surgical excision of the elongated mass of the xiphoid process. Histopathology revealed multiple exostoses. Heterotopic ossification can occur after surgical trauma to soft or bone tissue. Surgical excision with primary closure is the treatment of choice for symptomatic heterotopic ossification.
Bone and Bones ; Exostoses ; Exostoses, Multiple Hereditary ; Hemoperitoneum ; Humans ; Middle Aged ; Ossification, Heterotopic ; Pathology, Surgical ; Xiphoid Bone

Multiple osteochondromas (MO) is characterized by the formation of osteochondromas throughout the entire body. Although the evidence regarding its pathogenesis is well understood, no curative treatment for the disorder is available. Patients can be treated symptomatically by surgical removal of painful osteochondromas. Unfortunately, some patients still suffer from severe pain, even after surgery. We report on a case concerning a 48-year-old woman with a history of MO who presented with persistent pain after surgical removal of a symptomatic osteochondroma of the left scapula and multiple symptomatic osteochondromas of the left foot and trochanteric region. Several interventions to reduce the pain did not have any lasting effect. Subsequently, she was treated with autologous fat grafting (AFG). After each session she was pain-free for at least one year and reported only partial recurrence of the pain. This is the first case report describing AFG for the treatment of pain after both surgical removal of an osteochondroma and symptomatic osteochondromas in a patient suffering MO with promising results. The treatment is more effective and clearly continues to remain active longer than injection therapy or pain medication. Future studies are necessary to confirm our results.
Adipose Tissue ; Exostoses, Multiple Hereditary* ; Female ; Femur ; Foot ; Health Resorts* ; Humans ; Middle Aged ; Osteochondroma ; Pain Management ; Recurrence ; Scapula ; Transplants*