Cranial Hyperostosis Research Articles

Scenes from the past: the Medici Project: radiographic survey.

The remains of 12 members of the grand ducal (junior) branch of the Florentine Medici family were exhumed in 2003 as part of the Medici Project, a multidisciplinary study whose aim was to investigate the lifestyles, health status, and possible causes of death of members of one of the richest, most powerful families of the Italian Renaissance. Digital radiography and orthopantomography were performed on the skeletal remains of individuals who lived between 1562 and 1666. The observed bone malformations, deformities, and changes (degenerative, metabolic, and dental) challenge traditional views, based on portraits and historical accounts, about the appearance and lifestyle of some family members. Moreover, the occurrence of a constellation of bone changes related to diabetes (osteoporosis, osteoarthritis, diffuse idiopathic skeletal hyperostosis, cranial hyperostosis, and crystalline arthropathy) suggests that this metabolic disease was common in the grand ducal branch of the Medici family.

Localized cranial hyperostosis of meningiomas: a result of neoplastic enzymatic activity?

Cranial hyperostosis is a common secondary manifestation of intracranial meningiomas. This may occur with or without neoplastic invasion, apart or even remote from the growth. Alkaline phosphatase (AP) is one of many enzymes produced by meningiomas and is known to possess indirect ossifying properties. Meningiomatous cranial hyperostosis could possibly be mediated by a humoral mechanism. This hypothesis was tested using chemical and histochemical determination of the occurrence of the enzyme in a series of hyperostosing and non-hyperostosing meningiomas. In the hyperostosing type the content of AP was in average more than three times as high as in the non-hyperostosing type. The results thus are in favour of the induction hypothesis.

Apnoea–hypopnoea and mandibular retrusion as uncommon findings associated with Proteus syndrome

The aetiology of Proteus syndrome (PS) is yet unclear. This disease includes partial gigantism of the hands and/or feet, nevi, hemihypertrophy due to overgrowth of long bones, subcutaneous tumours, macrocephaly, cranial hyperostosis, and pulmonary and renal abnormalities. This case report is about a 17-year-old boy with two uncommon findings associated with PS: apnoea-hypopnoea and mandibular retrusion. A multidisciplinary team was important to provide professional care for this patient. Dentists and physicians proposed an adjusted treatment plan. Maxillary disjunction was achieved with a combination of orthodontic treatment and surgical procedure. This represented the initial care for malocclusion treatment and also the preparation for orthognathic surgery. The oral maxillofacial surgeon and the otorhinolaryngologist proposed this approach in an attempt to improve pharynx airflow. The patient has been followed for almost 3 years.

Poliposis hereditaria mixta con manifestaciones extracolónicas atípicas

We present the case of a 31 year-old-man with mixed hereditary polyposis and atypical extracolonic manifestations, as patent ductus arteriosus and mental retardation, with cranial hyperostosis. This is an extremely uncommon polyposis syndrome and has a moderate risk to progress to colon cancer.

Aggressive Cranial Vault Decompression for Cranial Hyperostosis: Technical Case Report of Two Cases

Camurati-Engelmann's disease, also known as progressive diaphysial dysplasia, is a disorder of the bone metabolism. Neurological manifestations of progressive diaphysial dysplasia include cranial nerve dysfunction, generalized weakness, cerebellar herniation, and increased intracranial pressure. In the past, surgical intervention has been of limited and temporary benefit. We present two patients with cranial hyperostosis secondary to Camurati-Engelmann's disease who were treated successfully with a single surgery involving a combination of multiple craniotomies for cranial vault decompression. Two patients presented with signs and symptoms of increased intracranial pressure secondary to Camurati-Engelmann's syndrome. Radiological workup revealed marked cranial hyperostosis. The patients underwent aggressive cranial vault decompression. Multiple craniotomies were performed, and the inner table was then drilled down until the bone was 1 cm thick. Effective surgical options are needed for clinically significant cranial hyperostosis. In an effort to further define operative management in these patients, we describe a single, aggressive surgical procedure that may be used for successful cranial decompression.

A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype

We report a four-generation pedigree with six affected females with cranial hyperostosis and various skeletal abnormalities. The phenotype is similar to frontometaphyseal dysplasia, which is part of the otopalatodigital (OPD) spectrum. We identified a novel in-frame deletion in exon 29 of the Filamin A gene (c.4904_4912del, p.R1635_V1637del) encoding rod domain repeat 14 of the protein. The disorder resulted in early lethality in male children. The phenotype of female individuals in this family is variable and rather mild, and bridges the phenotypes of various OPD-spectrum disorders.

Hiperostosis craneal como forma de presentación de un adenocarcinoma metastásico

Hyperostosis is a volume-unit osseous increase of very diverse etiology. We present the case of a 68-year woman with a cranial hyperostosis debuting with frontal protrusion, headache and neurologic symptoms. Image proves demonstrated a hyperostosis in the calotte and meningeal enhancement, without intracerebral lesions nor malignant cells in the cerebrospinal fluid. Analytic data were unspecific. Cranial biopsy showed huge neoplastic infiltration in bone and meninges. Primary site remained unknown after a CAT and a mammography.

Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families.

Frontometaphyseal dysplasia is a rare genetic syndrome affecting the skeletal system and connective tissue. It is believed to be inherited as an X-linked trait. Features of frontometaphyseal dysplasia overlap with other skeletal dysplasias. Prominent supraorbital ridges, radiologic evidence of cranial hyperostosis, and flared metaphyses are characteristic. Scoliosis, a rare associated finding, is usually mild, and familial progressive scoliosis has not been reported so far. The skeletal dysplasia and the associated clinical findings show significant intra- and interfamilial variability. The syndrome has been suggested to be an allelic variant of the Melnick-Needles osteodysplasty, an X-linked (dominant) entity. We present two families with frontometaphyseal dysplasia, in which both males and females showed the facial and skeletal features of the syndrome in association with progressive scoliosis. Some of the affected members also had hearing loss and urogenital anomalies, supporting the existence of the recently suggested entity "fronto-otopalatodigital-osteodysplasty syndome".

Mummies, Disease, and Ancient Cultures (review)

This sober collection of essays on mummies by thirty-nine contributors from a variety of disciplines and countries deals not only with ancient Egypt, but with the Americas, the Orient, the Mediterranean littoral, Melanesia, and the Arctic [End Page 302] regions. The general focus is on objective evidence of demographics, culture, diet, and disease patterns. The only weak chapter discusses bog bodies from northwestern Europe and Denmark, a subject about which some of us would like to know more. Only one illustrated bone lesion struck me as questionable: figures 10.10-11 may indeed be from South Americans with calvarial meningiomas, but fibrous dysplasia or unilateral cranial hyperostosis seem more likely. The authors wisely stress the difficulty of accurate diagnoses on paleopathologic material, and honestly face the adverse impact of "repatriation" on physical anthropology in the United States, Israel, and Australia--Native Americans have in fact closed the door on mummy studies in the United States.

Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13

Camurati-Engelmann disease, progressive diaphyseal dysplasia, or diaphyseal dysplasia Camurati-Engelmann is a rare, autosomal dominantly inherited bone disease, characterised by progressive cortical expansion and sclerosis mainly affecting the diaphyses of the...

Genetic Mapping of the Camurati-Engelmann Disease Locus to Chromosome 19q13.1-q13.3

Camurati-Engelmann disease (CED [MIM 131300]), or progressive diaphyseal dysplasia, is an autosomal dominant sclerosing bone dysplasia characterized by progressive bone formation along the periosteal and endosteal surfaces at the diaphyseal and metaphyseal regions of long bones and cranial hyperostosis, particularly at the skull base. The gene for CED, or its chromosomal localization, has not yet been identified. We performed a genomewide linkage analysis of two unrelated Japanese families with CED, in which a total of 27 members were available for this study; 16 of them were affected with the disease. Two-point linkage analysis revealed a maximum LOD score of 7.41 (recombination fraction.00; penetrance 1.00) for the D19S918 microsatellite marker locus. Haplotype analysis revealed that all the affected individuals shared a common haplotype observed, in each family, between D19S881 and D19S606, at chromosome 19q13.1-q13.3. These findings, together with a genetic distance among the marker loci, indicate that the CED locus can be assigned to a 15.1-cM segment between D19S881 and D19S606.

Multiple, juxtasutural, cranial hyperostoses and cardiac tumor: A new hamartomatous syndrome?

We report on a Japanese girl with multiple cranial hyperostoses and a cardiac tumor, both of which manifested in early childhood. Unique juxtasutural lesions characterized the cranial findings, including a chain of almost symmetrical osseous protuberances involving the frontozygomatic and frontoparietal junctions, and discrete bony bumps on the right occipitoparietal junction and left temporo-occipital junction. These lesions histologically consisted of thickened mature bone intervened with sparse fibrous tissues, mimicking osteoma. The cardiac mass remained pathologically unknown, but was shown to have fatty elements on magnetic resonance imaging (MRI). The patient showed no evidence of gnathic hyperostoses, ophthalmological abnormalities, skin lesions, or other visceral abnormalities, which ultimately precluded known hamartomatous syndromes with craniofacial hyperostoses, such as Gardner and Proteus syndromes. Yet regional Proteus syndrome could not be completely excluded. The craniofacial deformity as a sequel of hyperostoses in our patient superficially resembled that of X-linked calvarial hyperostosis; however, the vacuolated histiocytes that characterized the hyperostotic lesions were not found in our patient. The present disorder may represent a hitherto unknown hamartomatous syndrome.

Computed tomographic findings of brain and skull in myotonic dystrophy.

Twenty-four patients with myotonic dystrophy underwent computed tomographic examination of the skull and brain. The results were compared with those of 20 normal subjects of similar age and sex distribution. Microcephaly and thickening of the calvarium were frequently observed. Some cases showed basal ganglia calcification. Our findings confirm that cranial hyperostosis and brain pathology is a common manifestation of this systemic disease.

Oculodento‐osseous dysplasia: heterogeneity or variable expression?

Oculodento-osseous dysplasia (ODOD) has been recognised in three South African patients from two kindreds of Dutch descent. Their ocular, nasal, dental and digital stigmata resembled those of previously reported cases, but their cranial hyperostosis and mandibular overgrowth were of much greater degree. In addition, the two survivors had serious neurological complications consequent upon spinal cord compression at the base of the skull and calcification of the basal ganglia. Two of the patients were the product of marriages between a pair of brothers and a pair of sisters, who were themselves clinically normal. This situation is best explained by autosomal recessive inheritance. As ODOD is usually transmitted as an autosomal dominant, and in view of the unusual severity of the manifestations in our patients, it is possible that the condition is heterogeneous and that they had a distinct autosomal recessive form of the disorder. The presence of minimal stigmata in the mother and two prior generations of our third patient could be equally well interpreted as representing great variation in phenotypic expression of a single dominant gene or manifestation in a heterozygote for a recessive gene.

Decompression hyperostosis: cranial hyperostosis mimicking bilateral subdural hematoma on brain scintigraphy.

Scintraphic findings suggestive of bilateral subdural hematoma developed after successful decompression of communicating hydrocephalus. These findings were secondary to cranial hyperostosis. The similarity of brain scintigraphic findings in the two disorders is pointed out, and the necessity of correlating brain scintigraphs is stressed.

Endocranial hyperostosis, ankylosing spinal changes and diabetes

In order to ascertain whether endocranial changes (internal frontal hyperostosis, diffuse cranial hyperostosis) are related to ankylosing spinal changes or whether the endocranial changes occurring in old age are due to a metabolic disorder, i.e. diabetes, we studied three groups of female patients: with diabetes mellitus, with hyperostotic spondylosis and diabetes mellitus, and with ankylosing spondylarthritis. A high proportion of endocranioses associated with mild clinical symptoms was demonstrated in all investigated groups (45–71%). The results of our studies suggest that both diabetes and the factors leading to ankylosing spinal changes favor the development of endocraniosis; the summation of the two does not, however, increase the frequency of endocraniosis.

Hyperostosis cranii ex vacuo.

Following effective shunting procedures for hydrocephalus the calvarium may thicken, sometimes to a marked degree, and the cranial sutures may close prematurely. These events often lead to further intracranial complications. To distinguish this process from other forms of cranial hyperostosis the designation hyperostosis cranii ex vacuo is suggested. The purpose of this communication is to discuss the probable pathogenesis and the clinical significance of this postoperative cranial hyperostosis and to illustrate different phases of the process. The form of the skull is directly related to its function of protecting and supporting soft tissues. In early fetal life the brain is surrounded by a membranous cerebral capsule which is totally responsive to its spatial demands. As the organism develops, the various layers of the skull are differentiated within this capsule. The investigations of Moss and Young (1) have shown that the development of the outer table is correlated with increasing demands of the scalp tissues in general and the calvarial muscles in particular. The diploë not only serves to dissociate the functions of the compact inner and outer tables but provides for hematopoiesis and a reduction of calvarial weight as well. These authors emphasized the exquisite sensitivity of the inner table to change in cerebral morphology throughout the life span of an individual. The dura, which reflects the form of the brain and which may be regarded as the unossified part of the cerebral capsule, acts as the periosteal layer of the inner table. Thus, the size and shape of this table are determined by the dura and conform to the morphology of the brain. In progressive hydrocephalus, generalized enlargement of the skull may reach considerable proportions. This is noted particularly in infants, following multiple ineffective shunting procedures. If, eventually, a successful shunt is achieved which removes the normal growth pressure of the brain exerted against the calvarium, the calvarium thickens. This thickening involves predominantly the inner table (Fig. 1). The laminated appearance of the thickened calvarial bone eventually is remodeled into discrete outer and inner tables with intervening diploë, but unusual thickness of the skull may still be perceptible (Figs. 2 and 3). The sutures also play an important role in this phenomenon. Sutures are remnants of the original membranous cerebral capsule and are not growth sites in any way analogous to the epiphyses. The sutural area is a site where bone may be added to compensate for the separation of the calvarial bones as the brain expands. When, over a period of time, there is no growth pressure exerted against them, the sutures fuse. Actually, as there is no further need to compensate for the separation of the bones, the membrane ossifies (Fig. 2).

SHORTER NOTICES

Journal Article SHORTER NOTICES Get access Pavlov's Typology .compiled, edited and translated by J. A. GRAYLondon: Pergamon press. Price 84s. Cranial Hyperostosis. By M.L. PEROUPp. 157.Springfield: Thomas. price7.50dollars. Modern perspectives in child PsychiatryBY JOHN G. HOWELLS Pp. 595London: Oliver and Boyd, price£5 5s. Brain, Volume 88, Issue 2, June 1965, Page 424, https://doi.org/10.1093/brain/88.2.424-a Published: 01 June 1965

Cranial Hyperostosis (Hyperostosis Cranii or H.C.)

Perou has blended his own observations with those of many predecessors to emphasize the importance of the various cranial hyperostoses. A section on classification is followed by chapters on racial and hereditary pathological conditions associated with hyperostosis. Among congenital types discussed are the tori, oxycephalia and other forms of craniosynostosis, macro- and microcephalia, and so-called ex vacuo, which Perou considers really to be a degenerative change. Hyperostosis may be associated with viral infections, parasites, blood dyscrasias, physical and mechanical agents, dietary factors, and known endocrine disturbances. The most profusely illustrated chapter deals with dysplastic and hyperplastic hyperostoses. The familiar hyperostosis frontalis is included in the more generalized calvariae interna (HCI), a dysplastic process associated with an endocrine imbalance. Fibrous dysplasia, Paget's disease, and even otosclerosis, are considered to be primary osseous dysplasias. A slow, degenerative dystrophic process involving all or part of the calvaria is termed hyperostosis

Osseous changes in myopathy.

The skeletal changes observed on radiographic examination in 38 cases of progressive muscular dystrophy (22 Duchenne type, 8 facioscapulohumeral, 8 juvenile), 17 cases of dystrophia myotonica and 6 of myotonia congenita are reported and are related to the findings of other authors. Constant findings in early cases of muscular dystrophy included narrowing of the shafts and rarefaction of the ends of long bones, impaired development of flat bones, and coxa valga. At a later stage of the disease, scoliosis, widespread decalcification with disorganisation of cancellous structure and loss of the lines of force were noted and sometimes progressed to gross distortion and disorganisation of the skeletal system. The severity of the changes depended upon the age of onset and the rate of progress of the disease. Similar appearances were noted in the wasted limbs of four patients who had suffered from poliomyelitis at an early age and in one case of dermatomyositis. It is concluded that the osseous changes in muscular dystrophy are not due to an associated genetic factor or to a “progressive osteomyopathy”. They can be entirely related to disuse, to the absence of the stresses and strains imposed upon the bones by muscular attachments in the normal individual, and to the development of abnormal postures of the body and extremeties as a result of muscular weakness and/or contractures. In the cases of dystrophia myotonica, bone changes were confined to the skull. The dimensions of the sella turcica and the thickness of the skull vault in these cases were compared statistically with those in 60 normal control subjects of comparable age and sex. The sella turcica was found to be significantly smaller and the skull vault significantly thicker in the dystrophic individuals. These changes became progressively more marked with age and increased duration of the disease. The measurements in six cases of myotonia congenita and in six unaffected relatives of myotonic individuals did not differ significantly from those in the normals on the one hand or from those in dystrophic patients on the other, but all six cases of myotonia congenita were comparatively young. Cranial hyperostoses, bridging of the sella turcica and intracranial calcification did not occur more often in the dystrophic cases than in the controls. The paranasal sinuses were large and the jaw was prognathous in two cases, but again it was not possible to say that these features were significantly more common in the patients. In confirmation of the work of other authors it can be said that reduction in size of the sella turcica and increase in thickness of the skull vault are constant features in cases of dystrophia myotonica. Cranial hyperostosis and some of the other features previously described may be due to a different gene, associated by chance in certain dystrophic families.