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PubMed1987

Proteus syndrome in southern Africa: natural history and clinical manifestations in six individuals.

Six individuals with Proteus syndrome have been investigated; 2 were adults and the others ranged in age from 2 to 11 years. They had a wide spectrum of manifestations and severity together with the hitherto unreported anomalies of penile hypertrophy, macro-orchidism, goiter, and failure of breast development. These findings were associated with normal endocrine function. Bizarre digital overgrowth, hemihypertrophy, thickened palms and soles, exostoses of the skull, and multiple hamartomata were common anomalies. Early overgrowth of limbs and digits occurred in several instances but the ultimate stature of 2 adults was normal. Surgical intervention offers cosmetic and orthopedic benefits, but these must be assessed in the light of potential post-operative complications.

Adult↗
PubMed1994

Another family with tricho-rhino-phalangeal syndrome type III (Sugio-Kajii syndrome).

Tricho-rhino-phalangeal syndrome Type III (TRPS III) is a newly defined genetic entity. Only 9 patients in a family and one sporadic patient have been reported. We add another family in which 4 individuals in 3 generations are affected with this autosomal dominant trait. Although they manifested short stature, sparse hair, "pear-shaped" nose, and cone-shaped epiphyses, sharing these findings with TRPS Type I, the presence of a severe form of generalized shortness of all phalanges and metacarpals, and the absences of mental deficiency and exostoses in this family distinguish the disorder from the TRPS Types I and II. Their manifestations are quite similar to those of the patients reported as TRPS III (Sugio-Kajii syndrome).

Abnormalities, Multiple↗
PubMed1985

Pathology and the posture of the La Chapelle-aux-Saints Neandertal.

The depiction of the Neandertals as incompletely erect was based primarily on Boule's (1911, 1912a, 1913) analysis of the La Chapelle-aux-Saints 1 partial skeleton. The inaccurate aspects of Boule's postural reconstruction were corrected during the 1950s. However, it has come to be believed, following Straus and Cave (1957), that Boule's errors of reconstruction were due to the diseased condition of the La Chapelle-aux-Saints 1 remains, rather than to Boule's misinterpretation of morphology. The abnormalities on the La Chapelle-aux-Saints 1 postcranium include: lower cervical, upper thoracic, and lower thoracic intervertebral degenerative joint disease (DJD), a distal fracture of a mid-thoracic rib, extensive DJD of the left hip, DJD of the right fifth proximal interphalangeal articulation, bilateral humeral head eburnation, and minor exostosis formation on the right humerus, ulna, and radius. These were associated with extensive alveolar inflammation including apical abscesses and antemortem tooth loss, some temporomandibular DJD, bilateral auditory exostoses, and minimal occipital condyle DJD. None of these abnormalities significantly affected Boule's Neandertal postural reconstruction, and a review of his analysis indicates that early twentieth century interpretations of skeletal morphology (primarily of the cranium, cervical vertebrae, lumbar and sacral vertebrae, proximal femora and tibiae, posterior tarsals, and hallucial tarsometatarsal joint), combined with Boule's evolutionary preconceptions, were responsible for his mistaken view of Neandertal posture.

Arm↗
PubMed2005

Dental caries among the pre-Hispanic population from Gran Canaria.

The island of Gran Canaria was inhabited in pre-Hispanic times by people of North African origin who arrived on the island towards the second half of the first millennium BC. In previous studies, we reported that there are some differences between the coastal inhabitants from Gran Canaria, mainly buried in tumuli, and those from the central mountains, mainly buried in caves. For example, the prevalence of auricular exostoses is higher among the population interred in coastal tumuli when compared with the inland population. This finding may be explained by the practice of marine activities, as supported by chroniclers' reports, by archaeological data, and by bone trace-element analysis, which point to a more intense consumption of marine products by the inhabitants of the coastal regions. Dental caries epidemiology is one of the most important ways in which the diet of past populations can be reconstructed. The purpose of this study is to assess the prevalence and intensity of caries among the pre-Hispanic population of Gran Canaria, in order to increase our knowledge about the dietary habits of these people, and to search for differences among the population buried in caves and that buried in tumuli. We studied a total of 791 individuals. Sex was estimated in 561 cases, and age at death, following Brothwell's criteria, in 549. We found that 66.95% of individuals buried in caves and 58.91% of those buried in tumuli showed at least one carious lesion. The proportion of carious teeth was significantly higher among the population buried in caves (median = 15.71%, interquartile range (IR) = 0-33.33%) than among the population buried in tumuli (median = 6.25%, IR = 0-20%, P = 0.001). Type of burial is the main factor associated with the proportion of carious teeth.These data suggest that the population buried in caves had a different dietary pattern from that of those buried in tumuli.

Adolescent↗
PubMed2005

Distinct tissue-specificity of three zebrafish ext1 genes encoding proteoglycan modifying enzymes and their relationship to somitic Sonic hedgehog signaling.

Proteins of the EXT (Exostosin) 1 family are known for their role in human disease. Mutations in EXT1 cause hereditary multiple exostoses (HME), benign outgrowths of the bones, and therefore were classed as tumor suppressors. More recently, their role during embryonic development of Drosophila and mouse was addressed, revealing important functions of EXT1 genes in major signaling pathways. Here, we report the isolation of three zebrafish members of the EXT1 family, which we named ext1a, ext1b, and ext1c, respectively. They are expressed in restricted temporal and spatial domains during development. Both ext1a and ext1b are provided maternally and expressed during gastrulation: ext1a in the neurectoderm and ext1b in the embryonic midline and in the involuting mesendoderm of the germ ring. During somitogenesis stages, transcripts of all three ext genes can be found in the somitic mesoderm. Furthermore, ext1a is expressed in the dorsal neural tube. These expression domains become more pronounced at 24 hr postfertilization (hpf). At 48 hpf, ext1 genes are present in the brain, while somitic expression ceases. Zebrafish have three members of the EXT1 family, in contrast to only one EXT1 gene in mammals or Xenopus, consistent with the occurrence of partial genome duplications in the teleost lineage. Our expression analysis reveals that the three ext genes have distinct expression patterns, reflecting functional divergence after duplication. In addition, expression of ext1a and ext1c responds to elevated and reduced levels of Sonic hedgehog (shh) signaling in the somites, whereas expression of ext1b does not. This suggests a differential relationship between the shh pathway and individual ext gene function in zebrafish.

Amino Acid Sequence↗
PubMed1994

Second primary neoplasms in a population-based series of patients diagnosed with renal tumours in childhood.

Eight second malignant tumours developed in a population-based series of 218 patients diagnosed with renal tumours in childhood: renal cell carcinoma of the contralateral kidney, hepatocellular carcinoma, Hodgkin's disease, and 4 basal cell and 1 squamous cell carcinomas of skin. Excess risk of developing a second malignancy (excluding skin carcinomas but including a registrable spinal neurofibroma) was 14.7 (95% CI 4.0-37.7, P = 0.0003) for Wilms' tumour patients. Cumulative incidence of second malignant neoplasms (excluding skin carcinoma) was zero at 10 years, 5.0% at 20 years, and 10.2% at 30 years. The most common second neoplasms seen were benign osseous/chondromatous tumours and 4 of the 7 Wilms' tumour patients with malignant tumours had previous or synchronous tumours of this kind. Development of bony exostoses may be a marker for those patients at particularly high risk of subsequent malignancy.

Adolescent↗
PubMed1977

Degenerative joint disease in the mouse knee; radiological and morphological observations.

Gross anatomical and radioligical techniques have been used to investigate the form and incidence of degenerative joint disease in the knee joint of an inbred strain of mouse (STR/ORT). The disease was seen radiographically as a thickening of the subchondral bone in the medial tibial and femoral condyles predominantly in the males. In fresh and macerated joints only advanced lesions could be seen with light microscopy and these appeared as concave (tibial) or flattened (femoral) erosions with hard shiny eburnated surfaces. Medial patella dislocation was a common feature of the arthrotic joints and there was associated widespread periarticular heterotopic calcification. These growths started as peripheral exostoses from the patella and as small loci of mineralisation within the synovial tissue but later enlarged into plaques of calcified tissue. Ossific centres within the menisci were present in all knees but became greatly enlarged in the osteoarthrotic joints. Calcification of the collateral ligaments occurred in non-arthrotic joints, especially laterally, but progressed to thick ossification in the medial ligament of arthrotic knees. Eventually all these enlarging sites of calcification and ossification began to fuse together, thus limiting the degree of movement of the joint. There was a statistically significant positive relationship between the severe arthropathy and (a) marked patella dislocation and (b) the presence of calcification in the medial collateral ligament.

Aging↗
PubMed2006

Evidence of genetic underexpression in chorionic villi samples of euploid fetuses with increased nuchal translucency at 10-11 weeks' gestation.

OBJECTIVE: To retrospectively investigate whether the genetic profile from chorionic villous sampling (CVS) found in euploid fetuses with increased NT differs from matched controls. STUDY DESIGN: We employed cDNA microarray technology to characterize and compare the gene expression profile of chorionic villous tissues (which encompass the trophoblast and inner mesenchymal core) belonging to four singleton male fetuses with increased NT at 10-11 weeks' gestation. A pool of four normal chorionic villous tissues belonging to four respective fetuses, matched for gestational age and gender, was used as controls. RESULTS: In euploid fetuses, we found several underexpressed genes, possibly involved in mechanisms associated with the abnormal NT thickness. All these genes are likely to belong to the mesenchymal core of the villus that originates from the extraembryonic mesoderm, and thus might be closely representative of the embryonic genetic profile. They include: (1) genes of embryonic development and differentiation such as Endothelin 3 (EDN3) and secreted frizzled-related protein 4 (SFRP4); (2) genes of the extracellular matrix (ECM) metabolism such as tissue inhibitor of metalloproteinase1 (TIMP1), and disintegrin-like and matrix metalloproteinase (MMP) (reprolysin type) with thrombospondin type 1 Motif or ADAMTS2, exostoses (multiple)-like 1 (EXTL1), heparan sulfate (HS) 6-O-sulfotransferase 1 or HS6ST1, fibronectin 1 (FN1) and Integrin Alpha 10 (ITGA10) involved in HS and proteoglycan bio-synthesis, ECM synthesis and cell-matrix adhesion; (3) genes involved in vessel formation and differentiation such as angiogenic factor (VG5Q), and in blood pressure control and muscle contraction, like Endothelin 3 or EDN3 and sarcolemma associated protein (SLMAP). Such lower expressions of the villous tissues might be related to an immature genetic profile of the embryo development as well as abnormal regulation of ECM bio-synthesis and/or improper vessel growth and blood pressure control. Also, the results partially support the theories proposed for NT enlargement such as altered composition of ECM and abnormal/delayed development of the circulatory system. CONCLUSIONS: Abnormal extraembryonic genetic expression is found at 10-11 weeks' gestation in euploid fetuses with increased NT. If both extra- and intraembryonic mesoderms express the same genetic alterations, then microarray analyses on CVS could be used to screen several mesoderm-derivate anomalies.

Case-Control Studies↗
PubMed1991

DNA fingerprinting: the utilization of minisatellite probes to detect a somatic mutation in the proteus syndrome.

Syndromes with localized or segmental abnormalities have been proposed to be the result of a somatic mutation leading to the presence of somatic mosaicism in the tissue. The Proteus syndrome, with its hemihypertrophy, macrodactyly and exostoses, has features which would indicate that the phenotype results from such events. The success of utilizing DNA fingerprint probes to detect somatic mutations in cancer raised the possibility that a similar approach might be successful in an investigation of two patients with the Proteus syndrome. Single band differences were detected with the probe 33.6 in a pair of monozygotic twins discordant for Proteus and in a comparison of tissue from normal and affected areas in another patient. These findings would appear to confirm the hypothesis that the Proteus syndrome results from a somatic mutation. Furthermore, the results indicate that DNA fingerprinting may offer a valuable technique for identifying probes for investigations of similar syndromes.

Abnormalities, Multiple↗
PubMed1991

Case report 691. Radiation-induced osteochondromas (RIO) arising from the neural arch and producing compression of the spinal cord.

A case of a 16-year-old girl with a RIO of the T11 neural arch compressing the spinal cord is presented. The radiation therapy had been given after removal of a Wilms' tumor at 1 year of age. RIOs usually occur in the long bones and are diagnosed about 8 years following irradiation. Spinal cord or nerve root compression is usually associated with multiple cartilaginous exostoses.

Adolescent↗
PubMed1983

The proximal tibio fibular joint. An anatomical study with clinical and pathological considerations.

The proximal tibiofibular joint (TFJ) was studied in 489 dry bones and 50 specimens of dissected knees. A marked variability in morphological characteristics was found with frequent osteoarthritic changes. The most common types of joint found were the trochoid and the double trochoid, followed by the plane type. No articular facet could be recognised in 10 dry fibulae and 12 dry tibiae. The inclination of the joint ranged between 5 degrees and 80 degrees. Osteoarthritis of some degree was present in the TFJ joint in 83 fibulae (27%) and 80 tibiae (38%). It was associated with osteoarthritis of the knee joint, especially affecting the medial compartment, in 30% of cases. Osteoarthritis of the TFJ was also found in a case of multiple exostoses and in a specimen with Bejel disease. No correlation could be established between the presence of the 'squating facets' in the distal end of the tibia and the morphological characteristics or pathology of the TFJ. A clinical case of osteoarthritis of the TFJ in a women of 57 is presented, and the differential diagnosis of pain over the lateral aspect of the knee is discussed.

Female↗
PubMed1980

Epidemiological survey of shipyard workers exposed to hand-arm vibration.

All 169 caulkers employed at a ship yard were examined to determine the prevalence of vibration syndrome due to pneumatic portable tools (chipping hammer and grinders). Vibration measurements and medical investigations were performed in the field between September 1977 and July 1978. Vibration spectra recorded on pneumatic tools were compared to ISO Draft Proposal No. 5369. The chipping hammer produced the highest acceleration levels and exceeded the maximum ISO limits even for a short exposure time (30 min per shift). The results of medical investigations pointed out that 78.7% of caulkers experienced paresthesia in their hands, 31.3% Raynaud's phenomenon (or VWF), 20.1% presented with radiological signs of osteoarthritis at wrist and shoulders, 10.0% with olecranon exostoses, and 31.3% with cysts of the carpal bones. To diagnose VWF the skin temperature of the hands were recorded in all 169 caulkers and 60 controls at the shipyard. The basal skin thermometric map (recorded in 16 positions per hand) demonstrated an average difference of 2-2.5 degrees C between the two populations. The thermometric curve, monitored every 3 min for 40 min after a provocative cold-test (immersion of hands and wrists in melting ice for 2 min), well differentiated workers exposed and not exposed to vibrations. The authors emphasize that skin temperature (before and after the cold-test) are suitable for epidemiological purposes to compare the prevalence rates of VWF in control-experimental groups.

Adult↗
PubMed1988

Proteus syndrome versus Bannayan-Zonana syndrome: a problem in differential diagnosis.

The Proteus syndrome (PS) and the Bannayan-Zonana syndrome (BZS) both have multiple hamartomata as prominent features. Hemihypertrophy, macrodactyly, exostoses, skin lesions, scoliosis, and sporadic occurrence are seen in PS, whereas patients with BZS have macrocephaly and related craniofacial findings. BZS has been observed in families as an autosomal dominant trait. Although the two syndromes can be distinguished in most patients, there are features in common to both that may pose a diagnostic dilemma in an isolated case. We report the case of a 3-year-old girl with macrocephaly, macrodactyly, and superficial and intra-abdominal hamartomata who illustrates the problem of differentiating between PS and BZS. We compare this patient and another recently reported patient with other published cases of PS and BZS. Patients with PS, in general, show more extensive systemic involvement, including skeletal and cutaneous manifestations. Macrocephaly, seen in all reported patients with BZS, is also found in 14% of patients with PS. Overlap among syndromes which include hamartomata as prominent features suggests that they might be etiologically or pathogenetically related. The present case also illustrates the usefulness of imaging techniques in the diagnosis of mixed mesodermal hamartomata.

Child, Preschool↗
PubMed1981

[Injuries of the rotator cuff of the shoulder - experiences in diagnosis and treatment (author's transl)].

Arthrography is an established method to verify injuries of the rotator cuff of the shoulder. In this paper referring about 32 patients with 34 cuff injuries the results after operation (16 patients) and conservative treatment (18 patients) are compared. The following statements based on our experiences are possible: If conservative treatment is without result, operation should be done within 8 weeks after the accident. - Because of the danger of exostoses at the point of the osteotomy of the acromion which includes the restriction of movement, the transacromial approach is not advisable. - If there is only a small space between the acromion and the humeral head resection of the coracoacromial ligament is an advisable method for better admittance to the shoulder joint. - A sufficient treatment in the postoperative phase is of great importance for a good functional result.

Diagnosis, Differential↗
PubMed2001

[Parosteal lipoma].

Paraosteal lipoma is a rare benign tumour of the musculoskeletal system. It's features consist of a fatty component seated on a hypersotosis i.e. an exostose-like bone prominence. This tumor has a high tendency of metaplasia. Therefore chondroid elements may be present in addition to the fatty and bony components. Therapy of choice is complete surgical removal including the hyperostosis. Presenting this case the clinical and morphological characteristic of this rare tumour are discussed.

Adult↗
PubMed2006

[Benign and malignant lesions in the region of the inner ear and cerebellopontine angle].

Tumorous lesions in the region of the inner ear and cerebellopontine angle are very rare and can be classified into benign and malignant disease forms. This contribution presents and explains the CT and MRI characteristics of these tumors.High-resolution computed tomography (HRCT) in the axial projection is applied for evaluation in the high-resolution bone window. The coronary slices can be reconstructed from the axial datasets or in individual cases examined in the coronary plane.HRCT excellently demonstrates osseous lesions and in individual cases - e.g., exostoses - it can simply suffice to perform HRCT of the temporal bone, while HRCT is also excellent for detecting osseous lesions to determine whether the tumor is benign or malignant.MRI, on the other hand, excellently shows the extent of tumor spread because of its superb soft tissue contrast. Consequently, HRCT and MRI images of the inner ear and cerebellopontine angle provide meaningful information for visualization and classification of tumorous lesions. The two methods should not be considered as competing but rather as complementary and among other aspects exert considerable influence on the therapeutic approach.

Cerebellar Neoplasms↗
PubMed2006

[Arthrodesis of the first metatarsophalangeal joint].

Arthrodesis of the first metatarsophalangeal joint is a useful technique for the surgical treatment of hallux rigidus, complicated hallux valgus and rheumatoid forefoot deformity, and for revisions following resection arthroplasty or explantation of a prosthesis combined with interposition of a tricortical bone graft. In primary operations, good or excellent results can be achieved in 80-90% of patients. The articular surface and any exostoses or osteophytes are first resected aiming for a 15-30 degrees extension of the metatarsophalangeal angle and a 5-15 degrees valgus angle. Pseudarthroses occur in 10-13% of arthrodeses stabilized with screws or k-wires. When using a plate for fixation, the rate of pseudarthroses is below 6%. Only a small number of pseudarthroses require revision surgery. Up to 15% of patients develop mostly asymptomatic degeneration of the interphalangeal joint of the hallux.

Arthrodesis↗