Digestive obstruction: an unusual complication of hereditary multiple exostoses

Hereditary multiple exostoses is an autosomal dominant bone disorder characterized by multiple cartilaginous tumors growing outward from metaphyses of long bones. These tumors are usually located in long bones of the limbs. Exostosis also called osteochondroma can cause many complications, the most serious being malignant transformation as chondrosarcoma. We report a rare phenotype of this disease in a young male patient who presents digestive symptoms caused by a voluminous degenerated lumbar exostosis with anterior abdominal development.     

A man with hereditary exostoses and high-grade non-Hodgkin's lymphoma of the bone

Multiple cartilaginous exostoses (MCE) is an autosomal dominant disorder that can lead to malignant transformation from exostoses to a secondary chondrosarcoma. We present a case report of a 52-year-old man with MCE who had a palpable mass at the left shoulder. At the site of the left proximal humerus, a cartilaginous exostosis was localized, suggesting that the tumor developed by a malignant transformation of an exostosis into a secondary chondrosarcoma. Interestingly, a biopsy showed a diffuse large B-cell lymphoma with Burkitt-like features. To our knowledge, the association of high-grade lymphoma and hereditary exostoses has not been described previously. This case demonstrates that a malignant tumor at the location of a cartilaginous exostosis is not necessarily a chondrosarcoma and that a biopsy is an essential part of the diagnostic work-up.     

Maladie des exostoses multiples révélée par une thrombose poplitée veineuse et artérielle

We report a 38-year-old man who presented successively a thrombosis of the right popliteal vein and the right popliteal artery, responsible of a painful edema of the leg. There was no known thrombophilic predisposing condition. Radiologic assessment, guided by clinical findings, evidenced bilateral femoral and tibial exostosis resulting in a diagnosis of hereditary multiples exostosis. Although anticoagulant treatment with unfractioned heparin was instituted, distal ischemia of the right lower limb developed. Resection of the compressive osteochondroma and an arterial femorotibial bypass venous graft were performed in addition to prolonged anticoagulant therapy. Outcome was eventually favorable. Hereditary multiple exostosis may be asymptomatic for long time. Compression of adjacent vascular structures by an osteochondroma is a rare and potentially serious complication.     

Hereditary multiple exostosis complicated by spontaneous haemothorax

Spontaneous haemothorax is a rare event in the general population. However some diseases, including hereditary multiple exostosis, have an increased incidence of this complication. We report the case of a 22 year old patient with hereditary multiple exostosis who presented with a right sided haemothorax due to an exostosis of the seventh rib. The pathophysiology of spontaneous haemothorax in the setting of hereditary multiple exostosis is discussed together with surgical treatment and long term follow up.     

Hereditary multiple exostoses after 40 years of development: a case report

INTRODUCTION: Hereditary multiple exostoses is an autosomal dominant skeletal disorder with genetic heterogeneity and an estimated prevalence of 1/50,000 in western countries. Malignant degeneration is a rare (about 2%) but classical complication in patients with hereditary multiple exostoses. At least 3 loci identified as EXT 1, EXT 2 and EXT 3 are involved in this skeletal disease. EXEGESIS: The case of a 45-year old man is described with 15 years follow-up after resection of a well-differentiated chondrosarcoma (grade I), which arose from a right posterior pelvic exostosis. The observed radiological lesions remained relatively stable until now. The genetic mutation which is responsible for the disease was determined at the locus EXT 1. CONCLUSION: The present case report illustrates the natural history of hereditary multiple exostoses, especially since the patient underwent a malignant degeneration which could be resected without recurrence. The results of the genetic analysis contributed to the understanding of the pathophysiology of the disease.     

Compression nerveuse et veineuse profonde par un faux anévrysme de l’artère fémorale superficielle au cours d’une exostose multiple

The multiple exostosis is a hereditary bone tumour. Generally, its complications are benign and are related to compressing surrounding structures such as nerves and vessels. This is the case of a 52-year-old woman with a family history of multiple exostosis, which was complicated by a pseudoaneurysm of the right superficial femoral artery. The delay in diagnosis was allowed to develop this pseudoaneurysm which caused nervous and deep venous compression.     

Extraintestinal polyps in Peutz-Jeghers syndrome: presentation of four cases and review of the literature

Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder characterized by hamartomatous polyps in the gastrointestinal tract and typical pigment lesions. Extraintestinal polyps have rarely been reported. Possible sites include the respiratory tract, urogenital tract, and gallbladder. We here describe four cases of extraintestinal polyps in PJS patients and review the literature on the need for operative therapy of extraintestinal polyps in PJS. Three nonrelated patients were examined who had PJS and polyps in the gallbladder; the fourth patient had PJS and recurrent choanal polyps. Surgery has so far been performed only for symptomatic polyps: one laparoscopic cholecystectomy and removal of the choanal polyps for recurrent infections of the respiratory tract. The remaining two patients reported no symptoms from the extraintestinal polyps. No malignant transformation was found in these patients, nor has such been reported in the literature on PJS. The frequent observation of this manifestation in our patients raises the question of clinical management: Is prophylactic surgery indicated? Since malignant transformation of PJS polyps in the intestine is extremely rare we see no reason for operative therapy as long as the polyps are small and asymptomatic. Regular sonographic controls are recommended since the risk of malignant transformation cannot be ruled out at present.     

Rupture of a popliteal artery pseudo-aneurysm revealing a tibial osteochondroma: case report and review of the literature

Osteochondroma constitutes the most frequent bone tumor. It is exceptionally responsible for vascular complications from which pseudo-aneurysms constitute the most frequent entity. We report the case of a 20-year-old patient who presented with acute pain of the left knee following a sports' accident. Vascular ultrasonography showed the rupture of a false aneurysm of the popliteal artery. An arteriography confirmed the diagnosis by showing contrast leakage at the level of the below-knee popliteal artery projecting over an osteochondroma. Surgery was undertaken to close the aneurysm an insert a venous graft. The procedure was completed by excision of the bone tumor. Vascular complications of osteochondroma are rare but should be considered in young patients with a false aneurysm of the popliteal artery. Surgery is required for the treatment of false aneurysms on exostosis.     

Nonsolitary Giant Perianal Trichoepithelioma With Malignant Transformation Into Basal Cell Carcinoma: Report of a Case and Review of the Literature

Trichoepitheliomas are benign cutaneous tumors that originate from hair follicles and present in two clinical forms. Multiple trichoepithelioma has autosomal transmission and is dominant as a result of the loss of heterozygosity in the 9p21 region, whereas the giant form is solitary, nonhereditary, and rarely affects the perianal region. Diagnostic differentiation from basal cell carcinoma presents notable difficulty, and the use of immunohistochemical studies often is necessary for correct differentiation. The concomitant presence of giant solitary trichoepithelioma and basal cell carcinoma raises the question of whether there is the possibility of malignant transformation, or if it is simply an encounter between the two types of neoplasia. The objective of the present study was to report on a patient who had the two clinical forms of trichoepithelioma (multiple trichoepithelioma and giant solitary trichoepithelioma) in the perianal region, without hereditary antecedents. In this case, the transformation of the largest-sized lesion into basal cell carcinoma was observed. The lesions were studied by means of histopathologic and immunohistochemical studies to investigate the bcl-2 oncogene. The tissue expression characteristics for bcl-2 and the histopathologic examination allowed the diagnosis of multiple trichoepithelioma in the smaller lesions and nonsolitary giant trichoepithelioma with malignant transformation into basal cell carcinoma in the largest-sized lesion. After surgical excision and adjuvant radiotherapy, the patient is now asymptomatic, without signs of relapse, eight months after the surgery.Presented at the meeting of the Brazilian Society of Coloproctology, Ouro Preto, Minas Gerais, Brazil, September 13 to 17, 2002.     

Clinical and molecular studies of EXT1/EXT2 in Bulgaria

EXT1/EXT2-CDG (Multiple cartilagineous exostoses, hereditary multiple osteochondroma (MO); OMIM 133700/133701) are common defects of O-xylosylglycan glycosylation. The diagnostic criteria are at least two osteochondromas of the juxta-epiphyseal region of long bones with in the majority of cases a positive family history and/or mutation in one of the EXT genes. The authors report data on clinical symptoms and complications of 23 patients (from 16 families), discussing the family history, age of diagnosis, new clinical and molecular data. Fifteen mutations and large deletions, of which nine are new, were detected in the EXT1 and EXT2 gene by sequence analysis, FISH and MLPA analysis.     

Osteochondroma of the tibia and popliteal artery stenosis

In our department, an osteochondroma of the tibia in a young girl with intermittent claudication of the right leg was treated. Many instrumental examinations were performed in order to exclude an arterial disorder. As the patient shows signs of arterial compression, an operative procedure to remove the exostosis was performed.     

Malignant mesothelioma of the greater omentum mimicking omental infarction： A case report

Mesothelioma develops most commonly in the pleura, and less frequently in the peritoneum. Usually, it manifests as diffuse peritoneal thickening and multiple nodules, and rarely as a solitary mass. We report a rare case of primary malignant mesothelioma of the greater omentum, which mimicked omental infarct. A 54-year-old Korean man was admitted because of severe abdominal pain of sudden onset. A tender mass with indistinct margins was palpated in the upper abdomen. Abdominal ultrasound and computed tomography showed an illdefined mass in the greater omentum and little ascites in the peri-hepatic space, and neutrophil-dominant exudates were documented on paracentesis. Intravenous antibiotics and analgesics were given for omental infarction with superimposed infection, which resulted in symptomatic improvement. The imaging studies after a week revealed a growing mass and ascites. Laparoscopic surgery was performed and an 8 cm × 3.3 cm greater omental mass was found, with multiple small nodules on the peritoneum, diaphragm, and pelvic cavity wall. Histological examination showed proliferating malignant epithelioid cells that stained strongly for calretinin, which was compatible with malignant mesothelioma. We recommend that primary omental mesothelioma should be included in the differential diagnosis of patients with omental infarction, despite its rarity.     

Cardiac involvement in 2 cases of malignant non-Hodgkin's lymphoma. Course of cardiac involvement under chemotherapy

In a recently published post-mortem series the incidence of cardiac lesions in malignant lymphoma was estimated at about 8.7%. These lesions rarely produce specific cardiac symptoms; they usually are late manifestations of a disease with multiple secondary lesions or are discovered at autopsy. In most patients the lesions are not limited to the heart but represent the extension to that organ of a malignant lymphoma. We observed two cases of cardiac lesions secondary to malignant non-Hodgkin lymphoma and we were able to evaluate their response to chemotherapy. In the first patient the cardiac symptoms revealed the lymphoma; in the second patient the cardiac involvement was discovered 4 years after the lymphoma was diagnosed. In both cases the cardiac lesions were detected by two-dimensional echocardiography. They presented as polypoid masses filling the right atrium and associated with periaortic thickening in the first case, and as a large heterogeneous mass including a tricuspid valve leaflet and extending to the free wall of the right ventricle in the second case. Pericardial effusion was present in the two patients. These echocardiographic findings were confirmed computerized tomography and catheterization. In the first case, followed up for one year, the echocardiographic images reverted to normality after chemotherapy. The second patient, unfortunately, did not respond to chemotherapy and deteriorated rapidly.     

A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses

Multiple hereditary exostoses (MHE) is one of the most common skeletal dysplasias, exhibiting the formation of multiple cartilage-capped bony protrusions (osteochondroma) and characteristic bone deformities. Individuals with MHE carry heterozygous loss-of-function mutations in Ext1 or Ext2, genes which together encode an enzyme essential for heparan sulfate synthesis. Despite the identification of causative genes, the pathogenesis of MHE remains unclear, especially with regard to whether osteochondroma results from loss of heterozygosity of the Ext genes. Hampering elucidation of the pathogenic mechanism of MHE, both Ext1^+/− and Ext2^+/− heterozygous mutant mice, which mimic the genetic status of human MHE, are highly resistant to osteochondroma formation, especially in long bones. To address these issues, we created a mouse model in which Ext1 is stochastically inactivated in a chondrocyte-specific manner. We show that these mice develop multiple osteochondromas and characteristic bone deformities in a pattern and a frequency that are almost identical to those of human MHE, suggesting a role for Ext1 LOH in MHE. Surprisingly, however, genotyping and fate mapping analyses reveal that chondrocytes constituting osteochondromas are mixtures of mutant and wild-type cells. Moreover, osteochondromas do not possess many typical neoplastic properties. Together, our results suggest that inactivation of Ext1 in a small fraction of chondrocytes is sufficient for the development of osteochondromas and other skeletal defects associated with MHE. Because the observed osteochondromas in our mouse model do not arise from clonal growth of chondrocytes, they cannot be considered true neoplasms.     

Alcohol septal ablation in elderly patients: Is it as effective as in young patients?

Hypertrophic cardiomyopathy (HCM) is a common genetic abnormality that can occur in as many as 1 in 500persons. 1 Researchers have found multiple mutations in 10different sarcomeric proteins such as myosin heavy chain and tropomyosin can cause this disease. ……     

Long-term follow-up of a population based cohort with monoclonal proteinaemia

Prospective studies on the risk of malignant transformation in patients with monoclonal gammopathy of undetermined significance (MGUS) and factors predictive of survival are lacking. The Dutch Comprehensive Cancer Centre West, comprising 1·6 million inhabitants, initiated a prospective hospital-based cohort study on 1464 patients with newly diagnosed M-proteinaemia, median age 73 (17–103) years. M-protein related diagnoses, patients' characteristics, laboratory investigations, bone marrow examinations and skeletal X-rays were registered with a yearly follow-up. Main endpoints were death, or new diagnoses of multiple myeloma and non-Hodgkin lymphoma. Kaplan–Meier survival curves were compared with age- and gender-matched survival data from the total Dutch population. Cumulative malignant transformation was corrected for death using a competing risk model. Risk factors for transformation or death were analyzed by univariate and multivariate analyses. In 1007 MGUS-patients, malignant transformation was associated with rising M-protein levels, IgA and IgM isotype and occurred at a yearly rate of 0·4%. All MGUS patients survived less than a matched cohort of the Dutch population, even in the absence of M-protein-associated comorbidity. Serum albumin levels at entry appeared highly predictive for survival. M-proteinaemia is not an innocent symptom. Although malignant transformation occurs rarely, survival is shortened irrespective of comorbidity.     

Hypocalcemia: a rare complication of von Hippel-Lindau disease

von Hippel-Lindau disease is a hereditary neoplastic syndrome, characterized by malignant and benign lesions in multiple organs. Pancreatic involvement is very common and is in general asymptomatic. We describe a case of malabsorption with severe hypocalcemia in a patient with von Hippel-Lindau disease, caused by exocrine pancreatic insufficiency, probably due to severe cystic transformation of the pancreas.     

Enteritis cystica profunda in peutz-jeghers syndrome

The hereditary condition known as Peutz-Jeghers syndrome is characterized by mucosal pigmentation and gastrointestinal polyps. The polyps, usually pedunculated hamartomas, are significant only for the symtoms they cause. Intramural lesions also have been described with gross microscopic features that are often interpreted as malignant. Careful evaluation may show most of these lesions to be enteritis cystica profunda. These rarely diagnosed but benign tumors have very different implications for treatment and prognosis.     

Multiple hereditary exostoses and enchondromatosis

Multiple hereditary exostoses (MHE) and enchondromatosis are rare multifocal benign disorders usually causing skeletal deformities appearing already in childhood. MHE is a dominant autosomal inherited disorder characterized by multiple osteochondromas (exostoses) growing outward from the metaphyses of long bones as well as from flat bones. They may cause reduced joint motion and pain due to tendon, muscle, and nerve compression.Enchondromatosis (or Ollier's disease) is a noninherited disorder characterized by the presence of multiple intraosseous enchondromas located asymmetrically in the skeleton and with a wide variation regarding location, size, and number ranging from the involvement of a single hand to the involvement of the entire skeleton. It can occur together with soft-tissue hemangiomas in Maffucci's syndrome. Clinical problems caused by the enchondromas are mainly related to skeletal deformities causing malalignment and restricted motion of joint.In both disorders, there is a risk of malignant transformation as well as secondary degenerative joint changes.     

Angiomyolipoma presenting as fever of unknown origin

A case of renal angiomyolipoma presenting as fever of unknown origin unassociated with tuberous sclerosis is described. Important features include (1) infrequent occurrence in absence of tuberous sclerosis, (2) angiographic appearance suggesting neoplasm, (3) absence of documented malignant tissue transformation, and (4) presenting symptoms most frequently included abdominal pains, palpable flank mass and hematuria. Surgical removal of the lesion in this instance was associated with cessation of fever.