Hyperostosis frontalis interna, a genetic disease?: Two medieval cases from Southern Poland.

Two cases of thickening of the internal tables of the frontal bones (hyperostosis frontalis interna, (HFI)) have been examined. These were two female skeletons from the 16th century Dominican Church in Raciborz (Southwest Poland). The similarity of their morphological and metrical traits indicates that they could be related, and suggests that HFI is likely to have a genetic base. These two skeletons are the subject of an analysis which may possibly throw some new light on the controversial and continually disputed nature of this illness.

Evidence of a genetic basis of Morgagni-Stewart-Morel syndrome. A case report of identical twins.

We report two 71-year-old female monozygotic twins presenting with advanced hyperostosis frontalis interna, obesity, shortness and cognitive impairment. They both have suffered from generalized seizures since their early adulthood. Moreover, the patients showed some additional conditions only occurring in one individual or the other such as migraine, marked recurrent depressive disorder or polyarthrosis. The symptoms common to both twins appear to correspond to the Morgagni-Stewart-Morel syndrome and indicate a genetic basis of this disorder as these features occur in genetically identical patients.

Are hyperostosis frontalis interna and leptin linked? a hypothetical approach about hormonal influence on human microevolution.

It is striking that evidence for hyperostosis frontalis interna - a phenomenon of exclusive bilateral thickening of frontal endocranial surface - in archaeological samples is very rare in contrast to its modern prevalence. Because microevolutionary changes have been shown for various human characteristics any alteration of hormonal levels is very likely. Selection pressure was definitively higher in earlier times. This favoured prolonged alertness in order to access sufficient food, shorter feeling of satiety, lower level of fat metabolism, lower metabolic rates and, therefore, lower level of leptin - a 167 amino acid peptide mainly involved in human total body fat regulation. Its effects on bone metabolism are still debated. Nevertheless, we postulate the following hypothesis: In humans a decrease of selective pressure favoured an increased metabolic rate. This, being related to the higher level of leptin caused an increase of localized bony overgrowth like hyperostosis frontalis interna.

Cranioplasty in frontometaphyseal dysplasia.

Frontometaphyseal dysplasia is an extremely rare craniotubular bone disorder predominantly manifested by supraorbital bossing. Although recognizable with findings at birth, it is usually identified successfully before the onset of puberty. These patients often are stigmatized related to their appearance and may present to the plastic surgeon for intervention. We present a case of successful cranioplasty in correcting the fronto-orbital deformity in a 9-year-old child with frontometaphyseal dysplasia.

Management and outcome of two pregnancies in a woman with craniodiaphyseal dysplasia.

Hyperostotic bone dysplasias are characterized by progressive hyperostosis and sclerosis of the cranium and facial bones. As a result of progressive bony overgrowth, intracranial pressure may increase and lead to brain and nerve compression, cranial nerve palsies, and an increased incidence of seizures. The long bones often exhibit defective modeling as well as variable degrees of metaphyseal and diaphyseal hyperostosis. In addition, the axial skeleton (including the pelvis) is often hyperostotic and sclerotic. The clinical features of these disorders may have relevance to the outcome of pregnancy; however, there are no reports on the management and pregnancy outcome of patients affected with hyperostotic bone disease. In this report, we describe the course of two pregnancies in a woman with craniodiaphyseal dysplasia (a rare craniotubular dysplasia). Prenatal assessment, method of delivery, choice of anesthesia, and neonatal management are discussed. Although this disorder is rare, the pathophysiologic considerations relevant to pregnancy outcome may be applicable to the management of pregnant women with other hyperostotic bone dysplasias.

[Hyperostosis cranialis interna; a new syndrome with autosomal dominant inheritance]. / Hyperostosis cranialis interna; een nieuw syndroom met autosomaal dominante overerving.

A family is described which currently comprises nine individuals, spanning three generations, who are affected with a bone disorder which is confined to the skull and is accompanied by impaired function of the cranial nerves. Radiological examination showed intracranial hyperostosis and osteosclerosis of the calvaria and the base of the skull, without involvement of the mandible or other skeletal bones. Invariably, the main presenting symptom was recurrent facial nerve paralysis from late childhood onwards, but concurrent and variable involvement of the olfactory, optic, vestibular and acoustic nerves was seen; this could be attributed to nerve compression by the bony encroachment into the cranial foramina. Morphological investigations revealed increased formation of bone tissue with a normal structure. The pedigree suggests an autosomal dominant mode of heredity. A review of the literature did not disclose any previous reports on this disorder.

Hyperostosis frontalis interna and mental morbidity.

Forty-six mentally ill women with radiologically verified hyperostosis frontalis interna (HFI) were compared with 46 matched mentally ill women without HFI in respect of mental morbidity among the full siblings of the two groups. It was found that mental morbidity was lower among the siblings on mentally ill women with HFI than among those of similar mentally ill women without HFI. A reasonable interpretation of these findings is that the combination mental illness-HFI is more often exogenously determined than other forms of mental illness.

The Coffin-Lowry syndrome: an inherited faciodigital mental retardation syndrome.

Eight patients in three families had mental retardation, characteristic facies and hands, and skeletal changes; the clinical features suggested to us that they had a syndrome previously thought to represent two entities described by Lowry and associates and by Coffin and associates, respectively. New findings include skeletal, orodental, and dermatoglyphic abnormalities and histopathologic changes suggesting that the syndrome is a heritable disorder of connective tissue. Severe expression in males and transmission through mildly affected females suggest X-linked or sex-influenced autosomal dominant inheritance.