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Two case histories of multiple hereditary osteochondromatosis are presented. Multiple hereditary exostoses are the most common inherited systemic disorder of bone. The presence of ankle deformity in 50% of the cases and the potential for malignant transformation make this an important disease for the clinician to be familiar with.
In two patients, both women of 32 years old, who had a local tumour in the neck firmly attached to the spine, radiologic imaging and biopsy led to the diagnosis of osteochondroma. Both patients recovered, but one had an episode of atrophy of the M. trapezius and the M. rhomboideus. If a solid mass is palpated in the neck a malignant process and cervical exostosis should be considered in the differential diagnosis. Exostoses usually are benign symptomless tumours, diagnosed in the second or third decade of life. They may compress spinal nerves and in rare cases cause severe complications by compression of vital structures such as myelum and arteries. An exostosis should be resected only if it is symptomatic or if a malignant process is suspected. In case of doubt surgical intervention is indicated with special attention to surrounding structures such as nerves and blood vessels.
OBJECTIVE: To investigate further the genetic basis of hereditary multiple exostoses (EXT) and provide useful information for gene diagnosis of the disease. METHODS: Polymerase chain reaction-single strand conformation polymorphism was used to examine the entire coding regions of EXT(1) gene on chromosome 8 and EXT(2) gene on chromosome 11 for mutation in thirty EXT families. Mutations were further identified by sequencing. RESULTS: Two frameshift mutations were identified in two unrelated EXT families. One was the deletion of one base(T) in exon 6 of the EXT(1) gene, and the other was the deletion of four bases (tgtt) in exon 2 of the EXT(2) gene. Both of the mutations resulted in a frameshift and premature termination of translation. CONCLUSION: EXT is a genetically heterogeneous bone disorder caused by the mutation of EXT tumor suppressor gene. These results could be directly applied in the genetic counseling and prenatal genetic diagnosis of EXT.
A case of hereditary multiple exostoses successfully operated is reported. The patient, a 15 year-old white brazilian boy, was admitted with tetraplegia and Babinski's sign. Early diagnosis followed by prompt surgery may prevent permanent spinal cord damage.
Hereditary multiple exostose(EXT) is an autosomal dominant disorder of skeletal system. Three genetic loci have been identified at 8q24.1(EXT1), 11p11(EXT2) and 19p(EXT3) respectively. In this paper, EXT2 gene was cloned with positional cloning and homologous screening. SSCP and sequencing analysis have been done in 37 EXT patients who came from 20 EXT families, 2 mutations of insertion were tested in 2 patients. This confirmed that the gene cloned in this paper was EXT2 gene which locus at 11p11. Additionally EXT4 gene was cloned with homologous screening and located at 1p36.1 with FISH in this paper.
The anatomic singularities of the nail unit explain why bony tumors and osseous outgrowths of the distal phalanx quickly interfere with the nail apparatus. Osteochondromas (or exostosis) are benign osteocartilaginous outgrowths most commonly located on the hallux. They are by far the most common bony lesions affecting the nail unit. While frequently considered benign tumors, subungual exostoses are better regarded as reactional osseous outgrowths rather than true tumors. Enchondromas (better named chondromas) are intraosseous tumors whose location at the distal phalanx is rare. Large tumors may be responsible for phalanx deformity.
Jacob's disease is regarded a rare condition in which a joint formation is established between an enlarged mandibular coronoid process and the inner aspect of the zygomatic body. Chronic temporomandibular joint (TMJ) disk displacement has been proposed as etiological factor of coronoid process enlargement. We present a 23-year-old woman with long-standing TMJ dysfunction and restricted interincisal opening, who developed a progressive zygomatic asymmetry. The patient underwent treatment by intraoral coronoidectomy and homolateral TMJ arthroscopy in the same surgery. The histopathological diagnosis of the coronoid sample was cartilage-capped exostoses with presence of articular fibrous cartilage. Although the low prevalence of this entity, it should be considered as a possible diagnosis in patients with progressive limitation of mouth opening, although a TMJ syndrome may be present as a cause of this entity.
Surfers are prone to acute injuries as well as conditions resulting from chronic environmental exposure. Sprains, lacerations, strains, and fractures are the most common types of trauma. Injury from the rider's own surfboard may be the prevailing mechanism. Minor wound infections can be treated on an outpatient basis with ciprofloxacin or trimethoprim-sulfamethoxazole. Jellyfish stings are common and may be treated with heat application. Other treatment regimens have had mixed results. Seabather's eruption is a pruritic skin reaction caused by exposure to nematocyst-containing coelenterate larvae. Additional surfing hazards include stingrays, coral reefs, and, occasionally, sharks. Otologic sequelae of surfing include auditory exostoses, tympanic membrane rupture, and otitis externa. Sun exposure and skin cancer risk are inherent dangers of this sport.
Progressive ankle valgus in childhood requiring surgical correction is usually because of paralytic disease or conditions that produce a short distal fibula such as multiple exostoses or both. Surface epiphysiodesis of the distal medial tibial physis was used to correct valgus deformity in ten ankles in seven patients. This procedure has been found to be a simple and effective method of treatment. Measurement of the degree of valgus and calculation of the remaining growth of the distal tibial physis are recommended to determine whether this procedure will be effective. It is most often indicated in the presence of moderate valgus in children aged 11 to 14 years.
Tumors are rare causes of knee symptoms in children but must be considered in the differential diagnosis of pediatric knee pain in order to avoid errors in treatment that could result in loss of limb or even life. Experience with 199 bone and soft-tissue tumors about the knee in children are reviewed. The majority of lesions were benign bone tumors (n = 101), with osteocartilaginous exostoses, nonossifying fibromas, and chondroblastomas predominating. Malignant bone tumors (n = 59) were less frequent, and osteosarcoma (n = 48) was by far the most common sarcoma. Soft-tissue lesions (n = 31) were much less frequent and included rhabdomyosarcoma, synovial sarcoma, fibrosarcoma, and desmoid tumors. A careful history, physical examination, and review of roentgenograms are essential to avoid errors in diagnosis. Malignant tumors require roentgenograms and laboratory studies in sequence to stage the patient. A properly performed biopsy established the diagnosis in most instances. Popliteal cysts, stress fractures, infection, myositis ossificans, histiocytosis, and other lesions can mimic tumors and delay correct diagnosis.
An unusual case of osteochondromatosis is presented with a review of the literature. Osteochondromatosis, also known as hereditary multiple exostoses or diaphyseal aclasis, are inherited, benign, cartilaginous neoplasms that consist of a pedicle of normal bone covered with proliferating cartilage cells. Pathologic, clinical, and radiographic findings will be discussed.
The case is presented of a 33-year-old man treated with Roaccutane for two years on account of severe acne conglobata. X-ray examination after two years showed pronounced hyperostoses with bridging in the thoracic spine and hyperostoses and beginning bridging in the cervical spine. Furthermore, small exostoses were found on the hands and feet. X-ray control of patients treated for more than six months with Roaccutane is recommended.
Multiple hereditary osteochondromata is a disorder consisting of multiple projections of bone (exostoses) capped by cartilage. The lesions are most numerous in the metaphyses of long bones but may appear on diaphyses of long bones and on flat bones and vertebrae. The transmission is autosomal dominant. Sarcomatous transformation is uncommon and probably occurs in fewer than 1% of patients. The more common indications for surgical excision of lesions are pain, growth disturbance, compromised joint motion, cosmesis, and secondary impingement of tendon, nerve, or vessel. Excision of the lesions is effective in relieving pain, improving cosmesis and joint motion, and removing secondary impingement of tendon, nerve, or vessel, and may retard or prevent progressive disturbance of osseous growth. Wrist and ankle deformities are often associated with relative shortening and bowing of the ulna and fibula, respectively; tilt and tapering of the distal radial and tibial epiphyses; and distal radioulnar and tibio-fibular diastasis. These deformities can be effectively treated by ulnar and fibular lengthening combined with hemiphyseal stapling of the distal radius and tibia. Progressive genu valgum is well corrected by placement of staples over the medial side of the physis of the distal femur or proximal tibia or both.
A false aneurysm of the popliteal artery, caused by an exostosis in a patient with multiple exostoses, is described.
The authors describe an apophyseal injury of the calcaneus in a child that resulted in a compound deformity consisting of three separate exostoses. These deformities were corrected by resection of the plantar exostosis and a closing wedge osteotomy of the body of the calcaneus.
The author describes the case of a child aged 11 spontaneously presenting a right surral phlebitis. The positive diagnosis was made immediately, with the aid of Functional vascular Investigation, that is venous Doppler and venous occlusion rheoplethysmography. A standard X-ray showed the existence of a right posterior femoral exostosis which looked as though it had been a causal factor in this phlebitis. However, the aetiological proof of this could not be given until seven months later, using phlebography. A survey of the existing literature does not reveal a comparable spontaneous case, without associated causal traumatism. For one thing, femoral osteogenic exostoses do not, despite their frequent occurrence, provoke more than a minimum of vascular complications, affecting the femoral or popliteal veins in particular. For another, spontaneous phlebitis in children are extremely rare and when they do occur it is as a result of haemopathies or collagenoses. Functional Vascular Investigation, now common practice in adults, made it possible to follow very precisely the development of the phlebitis in this child, and to check up on its sequelae. The great correlation between these functional investigations and clinical explorations and phlebography confirms their merit. They could be applied more systematically in infantile pathology.
A case study is presented demonstrating a patient with a scoliosis as a result of a short leg. The etiology of the short leg was a large sessile osteochondrom in a patient with Hereditary Multiple Exostoses (HME). A review of the condition is presented.
During 1944-1952 a large number of German patients were injected with "Peteosthor", a solution of Ra-224 with added traces of eosin and colloidal platinum. In high doses this treatment has been followed by an increased frequency of malignant bone sarcomas, benign exostoses, growth retardation, tooth breakage, kidney diseases, liver diseases and cataracts. This information is being used to estimate the bone cancer risk from Plutonium.