[Review of exostosing disease apropos of the study of a family with 14 carriers of multiple exostoses].
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Adolescent↗
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Exostoses of the external auditory canal.
Exostosis of the external ear canal is a disease unique to man. It has been identified in prehistoric man, affecting the aborigines of the North American continent. Aural exostoses are typically firm, sessile, multinodular bony masses which arise from the tympanic ring of the bony portion of the external auditory canal. These growths develop subsequent to prolonged irritation of the canal. The large, primitive jaw of prehistoric man placed great mechanical stress on the tympanic ring. Chronic aural suppuration seen in the preantibiotic era was soon followed by exostoses. Today, prolonged contact of the external ear canal with cold sea water is the most prevalent cause (aquatic theory). As a result the disease is now essentially limited to coastal regions. In this way we have seen exostoses appear in different stages of the evolution of man as a result of mechanical, chemical and now thermal irritation. The author is an otolaryngologist in a coastal region. In examining 11,000 patients during a ten-year period, 70 cases of symptomatic exostoses of the external auditory canal were identified. The incidence of exostoses was found to be 6.36 per 1,000 patients examined for otolaryngologic disease. It is a predominantly male disease. The development of these "irritation nodules" is painless until the tenth year of aquatic exposure to irritation, when symptoms of obstruction occur. The hearing loss associated with exostoses is usually a conductive type, secondary to occlusion of the canal by impacted cerumen or acute external otitis. The results of studying the thermal characteristics of the body of water used for such aquatic activities is presented.
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Exostoses induced by 224Ra (ThX) in children.
Exostoses are benign cartilaginous tumors of bone. They can occur naturally or be induced by radiation therapy during the time of skeletal growth. We have observed exostoses in 28 of 218 children given repeated injections of radioactive bone-seeking 224Ra. The younger the age at irradiation, the higher the incidence of exostoses. Boys are more susceptible than girls. To our knowledge, none of these radiation-induced exostoses have become malignant, although 36 of these children have developed bone sarcomas elsewhere in the skeleton.
Adolescent↗
The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24).
Hereditary multiple exostoses is a dominantly inherited skeletal disorder which alters enchondral bone during growth and is characterised by exostoses of the juxta-epiphyseal regions. Using polymorphic DNA probes, we have been able to exclude the disease gene from close proximity to the 8q24.1 region where a dominant syndrome with multiple exostoses, the trichorhinophalangeal syndrome type II (TRP II, Langer-Giedion syndrome, MIM 15025), has been previously localised (pairwise linkage Z = -8.96 at theta = 0 with probe L48 at locus D8S51). Multipoint linkage analysis using probes L48, L24, and L1 consistently excluded the HME gene from a large area of the distal long arm of chromosome 8, spanning the smallest region of overlap assigned to the TRP II gene. These studies support the clinical view that HME and TRP II are distinct entities.
Chromosomes, Human, Pair 8↗
Multiple cartilaginous exostoses in the dog.
The clinicopathologic aspects of multiple cartilaginous exostoses (MCE) in 2 dogs were compared with those in 9 previously reported cases of MCE in dogs. Although a familial tendency is probable, there is apparently no sex or breed predilection. Only bones that developed by endochondral ossification were affected. The vertebrae, ribs, and long bones were the most frequent location of exostoses. Bones of the carpal and tarsal joints and the skull were not affected in the cases evaluated. Physical examination and radiography may provide strong supportive evidence for a diagnosis of MCE, but a definitive diagnosis must be based on microscopic evaluation of osseous lesions. Treatment is unnecessary unless growth of exostoses results in clinical sequelae. Surgical extirpation of lesions should be considered if dysfunction of the skeletal, muscular, or neurologic systems develops. The prognosis is variable, being dependent on the location and number of lesions, the age of the patient at the time of diagnosis, and the presence or absence of clinical complications.
Animals↗
Hereditary multiple exostoses: clinicopathologic features of a comparative study in horses and man.
Investigation of hereditary multiple exostoses in horses under controlled research conditions for 10 years and epidemiologic studies that have spanned up to five generations of human families contain notable similarities. The present study demonstrated that a single dominant autosomal gene is responsible for hereditary multiple exostoses in horses and man. Affected individuals transmit this trait to approximately 50% of their progeny, whereas nonaffected individuals do not transmit the condition to their offspring. The tumors in affected horses are most often present at birth. They tend to be bilaterally symmetrical and vary in size, shape, and texture. Those on the legs generally do not appear to enlarge as the animal matures, but others, notably those on the ribs and scapulae, enlarge until skeletal maturity, Histologically, the tumors appear as typical ostosteochondromas in both horse and man. Sarcomatous transformations have not yet been detected after 10 years in horses, although such changes are occasionally reported in the similar disease condition in man. The remarkable similarities of hereditary multiple exostoses in the horse to that in man provide an opportunity for comparative biomedical study.
Animals↗
Hereditary multiple exostoses with myelopathy.
A 58-year-old woman with hereditary multiple exostoses had slowly progressive myelopathy due to a vertebral exostosis that compressed the spinal cord at T1-2. She did not show skeletal deformities, but had numerous palpable long-bone exostoses. While CNS complications are rare in hereditary multiple exostosis, 17 other cases have been reported.
Exostoses, Multiple Hereditary↗
[Multiple cartilaginous exostoses with polyposis of stomach and colon: a new, hereditary combination different from Gardner's syndrome (author's transl)].
Multiple cartilaginous exostoses were found in a 41-year-old man and his two sons, aged 11 and 15 years. The older boy had extensive polyposis of the sigmoid colon and gastric antrum, his brother had radiological changes suspicious of sigmoid polyposis, while there was no radiological evidence of polyposis in the father. None of them had any symptoms of polyposis. The described combination of findings suggests a separate entity from Gardner's syndrome, perhaps on the basis of a combined dominant gene inheritance. In case of multiple exostoses radiological and endoscopic examination of the gastro-intestinal tract for polyposis are indicated.
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Bone scintigraphy in hereditary multiple exostoses.
Two adult patients with multiple hereditary exostoses, a skeletal disorder with recognized malignant potential, each demonstrated increased 99mTc diphosphonate uptake in an exostosis in which renewed growth had begun. None of the other multiple exostoses in either patient showed abnormal uptake. Histologic study of the lesions demonstrated chondrosarcoma in one case and benign osteochondroma in the second. Although bone scintigraphy nonspecifically identifies bone growth rather than malignant degeneration, it is more useful than radiographic bone survey in the periodic surveillance of adult patients with this disorder.
Adult↗
[Disturbed growth in height in multiple cartilaginous exostoses (author's transl)].
Basing on the hypothesis that reduced body height in patients with multiple cartilaginous exostoses would be mainly accounted for by shorter extremities, not by a shorter trunk, the authors clinically examined 19 exostosis patients in respect of thigh, lower leg, upper and lower arm, as well as height of the seated patient. The dimensions were compared by the method of matched pairs, with 19 volunteers without diseased skeleton, who corresponded with one of the exostosis patients in respect of age, sex and height of seated patient. Results were evaluated according to Wilcoxon's test. This showed a statistically significant reduction in length of the extremities in adults with multiple cartilaginous exostoses.
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Subungual exostoses.
From 1910 through 1975, forty-four patients with subungual exostoses were seen at the Mayo Clinic. Thirty-four of them had the exostosis on the great toe. Forty-three of the patients were treated by local excision and one was treated by amputation of the hallux. Five patients had local recurrence. None of the tumors underwent malignant change. Histologically, the tumors consisted of a proliferating fibrocartilaginous gap that merged into mature trabecular bone at its base. The growth in the cap was so active that is sometimes mimicked sarcoma, but no true anaplasia was seen. The subungual exostoses were uniformly benign, and local excision was the treatment of choice.
Adolescent↗
[Dysphagia and cervical exostoses].
Three cases of highly situated (cervical) dysphagia are presented. Compression of the oesophagus and/or its reflex contraction caused by cervical exostoses is the advanced etiopathogenic mechanism. Diagnosis should be essentially based on lateral radiographic views and endoscopic studies. Initial treatment should be conservative. In case this proves unsatisfactory, surgical excison of the exostoses is indicated.
Cervical Vertebrae↗
Spinal cord compression caused by osteocartilaginous exostoses of the spine in two dogs.
Two dogs, one 4 months old and the other 1 year old, had histories of progressive posterior weakness. In both cases, there was severe asymmetric proprioceptive loss but appreciable preservation of strength. Benign, cystic expansile lesions involving the facets and lamina of the thoracic spine were observed radiographically; a single lesioons was demonstrated in the other. Examination of biopsy speciments taken at the time of laminectomy revealed the lesions to be osteocartilaginous exostoses (osteochondromas, ecchondromas, exostoses). The progress of dogs 1 and 2 has been monitored for 1 1/2 years and 9 months, respectively. Dog 1 has no weakness or proprioceptive loss; dog 2 has a mild proprioceptive loss in the right hindlimb.
Animals↗
Maxillary exostoses. Surgical management of an unusual case.
A case of an unusually large palatal torus and maxillary exostoses is presented. The preoperative evaluation, including laminagrams, is demonstrated. The surgical approach, with an apparent satisfactory result, is also described.
Aged↗
Osteomas and exostoses of the external auditory canal. A clinical, histopathologic and scanning electron microscopic study.
Osteomas of the external auditory canal are considered clinically to be discrete, pedunculated bone lesions arising along the tympanosquamous suture. They are benign lesions but often are slowly progressive in size. Exostoses of the external auditory canal are broad-based elevations of bone usually multiple and bilaterally symmetric, involving the tympanic bone. It appears that both clinical and histopathologic evidence is sufficient to justify the impression that these two lesions should be considered separate entities and clinical diagnostic and histopathologic criteria have been suggested for diagnosis of these lesions.
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Paraparesis in hereditary multiple exostoses: case report.
The authors report a case of hereditary multiple exostoses (HME) with neurologic complications, and review the literature. A 23-year-old man exhibited a worsening spastic paraparesis with sphincter dysfunction. The cranial nerves and the exteroceptive and deep sensations were apparently undamaged. The family history, the physical examination, and the systemic radiologic examination revealed all the characteristics of HME. The neurologic complication was caused by an exostosis, arising from the C2 right hemilamina, compressing the spinal cord. The patient quickly improved after a laminectomy.
Adult↗
[Spinal cord compression in multiple cartilagineous exostoses (case report)].
A 53-year-old patient with multiple cartilagineous exostoses developed narrowing of the thoracic spinal canal with compression of the cord and spastic paraplegia. The importance of radiologic examination of the whole spine as well as of the extremities is emphasized. When there is an exostosis in the spine neurologic examination disclosing cord compression should be carried out at regular intervals. If there are signs of cord compression, early decompressive laminectomy is the treatment of choice.
Arthritis↗
Disproportionate short stature, type E brachydactyly and exostoses of tibiae in a patient with an XYY karyotype. A 'new' syndrome?
An 18-year-old male with an XYY karyotype is reported with short stature, normal intelligence and normal personality, in contrast to the XYY syndrome which can be characterized by tall stature, mental subnormality and aggressive behaviour. The patient, in addition, had exostoses of the tibiae bilaterally and type E brachydactyly; this association has not previously been described in patients with the XYY karyotype.
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