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PubMedDate not supplied

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.

Adolescent↗
PubMed1986

Tricho-rhino-phalangeal syndrome without exostoses, wih an interstitial deletion of 8q23.

We report on a patient with the Tricho-Rhino-Phalangeal syndrome (TRPS) with normal mentation, without exostoses and with a partial microdeletion of 8q23. Although she had the phenotypic characteristics of TRPS Type I, karyotypic analysis demonstrated the 8q-microdeletion usually associated with TRPS Type II, in which exostoses are present. Our patient represents the second reported instance of this phenotypic chromosomal association and provides further evidence for homogeneity of the TRPS.

Abnormalities, Multiple↗
PubMed1987

Proteus syndrome: an expanded phenotype.

We report on 11 new cases of Proteus syndrome to illustrate the broad range of the phenotype in this hamartomatous dysplasia. The cardinal manifestations of this sporadic disorder are hemihypertrophy, macrodactyly, exostoses, scoliosis, cavernous hemangiomas, lipomas, linear sebaceous nevi, and deeply rugated soles of the feet. Intelligence is usually normal. The differential diagnosis includes Klippel-Trenaunay-Weber and partial lipodystrophy syndromes.

Adolescent↗
PubMed1984

The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature.

We report on four patients with tricho-rhino-phalangeal syndrome with exostoses (TRPSE) who were not mentally retarded and review 32 previously published cases. These data enable more complete delineation of the phenotype and document the variability of the clinical and radiographic manifestations. Information on the genetics and the association with del(8q) is discussed, as are management and avenues for further investigation. The apparent variability of intelligence in TRPSE patients together with the high incidence of other problems, including significant delay in speech development and hearing loss, make systematic multidisciplinary evaluation and long-term treatment necessary to achieve the best outcome.

Abnormalities, Multiple↗
PubMed1992

On spinal osteochondromas.

Osteochondromas (or osteocartilaginous exostoses) make up about 30% to 40% of benign bone tumors. Most are solitary lesions but some are multiple, usually with autosomal dominant inheritance. From 1% to 4% of osteochondromas occur in the spine, where they can cause a variety of signs and symptoms, including those of spinal cord or spinal root compression. The authors present five patients with osteochondromas of the spine and review the findings together with those of over 130 cases reported since 1907. The cases were divided into: 1) spinal osteochondromas in patients with multiple osteochondromas, and 2) solitary osteochondromas occurring in the spine. The age (mean +/- standard error of the mean) of patients in the first group was 21.6 +/- 1.8 years compared to 30.0 +/- 2.1 years for those in the second group (p less than 0.02). There was a significant male predominance overall (M:F = 2.5:1; p less than 0.0005). In both groups, one-half of the lesions involved the cervical spine. Symptoms are caused by pressure on adjacent structures. Spinal cord compression was reported more than twice as frequently in the multiple osteochondroma group as in the single osteochondroma group (77% vs 33%; p less than 0.0005). Computerized tomography (CT) is the imaging procedure of choice. In both groups, the majority of surgically treated patients (90% and 88%, respectively) improve, with about three-quarters of the improved patients having no residual disease or only minor deficits.

Adolescent↗
PubMed1990

[Hand dermatoses in children].

Dermatoses of the hand in children are part of an original entity which can be classified in two groups: a group involving exclusively the hands and another one which is predominantly involving the hands. Attention has been focussed mostly on hand dermatoses in children (acropustulosis of infancy, papular, acrodermatitis, hand foot and mouth disease, subungual, exostosis). We discuss also the diagnostic and therapeutic aspects of scabies in children.

Acrodermatitis↗
PubMedDate not supplied

[Vertebrogenic lumbosacral radiculitis unrelated to disk herniation].

A classification of changes in the inferior lumbar portion of the spine that cause radicular pain and symptoms not amenable to concervative therapy is given. In most cases the said changes can be educed through a clinico-roentgenological investigation. Anatomical data bear proof to the presence of structural variants in which, in case of an intercurrent osteochondrosis without hernia of the disc, the compression of the root becomes quite probable. The classification lists changes that should be looked for when no hernia of the disc could be detected and lays emphasis on the multiplicity of causes accounting for the emergence of vertebrogenic radiculitis.

Exostoses↗
PubMed1975

Growth of a plasma cell myeloma in lathyritic mice.

Growth of a plasma cell myeloma (Adj PC-5) was studied in mice made lathyritic by the administration of beta-amino-proprionitrile (BAPN). The number of bones that had their medually cavities filled with tumor cells was notably decreased compared with tumor-bearing mice not treated with BAPN. Other aspects of tumor growth were the same. BAPN caused some retardation of tumor growth in the medullary cavity, but also caused osteoporosis and decreased tensile strength of collagen that allowed expansion of tumor growth outside the bones to proceed as usual. Additionally, the tumor-bearing mice showed some inhibition in their response to BAPN. This agrees with previous work that has shown that the response to BAPN treatment is greatest in animals that otherwise are healthiest.

Aminopropionitrile↗
PubMedDate not supplied

Cytogenetic investigations in cases of multiple developmental anomalies in children.

The authors studied 59 children including 48 with multiple developmental anomalies and 11 with disturbances of sexual development. In 11 cases (18.6%) the following chromosomal abnormalities were found: in 5 cases of Down's syndrome, 3 cases of full trisomy G, 1 case of 46XX/47XYG+ mosaicism, and in 1 case translocation 46XYD--G--t (DqGq)+. In 3 cases Turner's syndrome was present, with 45XG in 2 cases and 45XO/46XX in the 3rd case. Klinefelter's syndrome was disclosed in 1 case (47XXY), true hermaphroditism with mosaicism 45XO/46XX in one case, and Edwards' syndrome in 1 case with 47XYE+. Multiple chromosome breaks were found in 2 children. In the remaining 46 cases cytogenetic investigations of lymphocyte cultures stained (without using the banding technique) failed to demonstrate any differences in the number and structure of the chromosomes. The following groups were isolated in this material: 8 cases (13.6%) of gene mutation determining systemic defects (homocystinuria, chondrodystrophy, and two cases of intestinal polyposis, adrenogenital syndrome and hereditary osteocartilagineous exostoses each), 6 cases of malformations of hereditary origin (10.2%)-- and 32 cases with negative family history (54.2%). In 12 cases of the last group (37.2%) a history of various teratogenic factors acting during pregnancy was elicited (viral and protozoan infections, drugs and other chemicals, quantitative and qualitative malnutrition, hypoxia, mechanical trauma, vibration).

Abnormalities, Multiple↗