Phenotypic manifestations and management of hyperostosis cranialis interna, a hereditary bone dysplasia affecting the calvaria and the skull base

Waterval, Jérôme J.; Stokroos, Robert J.; Bauer, Noël; Bondt, R.B.J. de; Manni, Johannes J.

doi:10.1002/ajmg.a.33205

Cited by 10 publications

(11 citation statements)

References 16 publications

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“…Hyperostosis Cranialis Interna (HCI, OMIM 144755) is a rare bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. This results in the entrapment and dysfunction of cranial nerves I, II, V, VII and VIII, causing disturbances in smell, vision, sensation in the face, facial expression, hearing and balance, respectively [ 1 , 2 ]. In addition, increased ocular and intracranial pressure can occur, leading to frequent headaches.…”

Section: Introductionmentioning

confidence: 99%

“…Remarkably, there is no indication that the remainder of the skeleton is affected in HCI patients. The first radiological abnormalities are often seen in the first decade, whereas the first symptoms occur late in the first decade or in adulthood and slow progression of the disease can be seen until the age of 40 [ 1 , 2 ]. Untimely death may occur in severely affected cases, due to decreased intracranial volume [ 2 , 3 ].…”

Section: Introductionmentioning

confidence: 99%

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Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis

et al. 2018

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Hyperostosis Cranialis Interna (HCI) is a rare bone disorder characterized by progressive intracranial bone overgrowth at the skull. Here we identified by whole-exome sequencing a dominant mutation (L441R) in SLC39A14 (ZIP14). We show that L441R ZIP14 is no longer trafficked towards the plasma membrane and excessively accumulates intracellular zinc, resulting in hyper-activation of cAMP-CREB and NFAT signaling. Conditional knock-in mice overexpressing L438R Zip14 in osteoblasts have a severe skeletal phenotype marked by a drastic increase in cortical thickness due to an enhanced endosteal bone formation, resembling the underlying pathology in HCI patients. Remarkably, L438R Zip14 also generates an osteoporotic trabecular bone phenotype. The effects of osteoblastic overexpression of L438R Zip14 therefore mimic the disparate actions of estrogen on cortical and trabecular bone through osteoblasts. Collectively, we reveal ZIP14 as a novel regulator of bone homeostasis, and that manipulating ZIP14 might be a therapeutic strategy for bone diseases.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis

et al. 2018

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“…This benign condition may lead to progressive bone overgrowth and can affect cranial nerves I, II, V, VII and VIII. This disorder can be inherited in the autosomal dominant pattern and the treatment is surgical decompression of the impaired cranial nerves [2] . HFI is associated with conditions such as frontal headaches, migraine without aura, dementia, insomnia, apathy, memory disturbance, postural instability, psychoneurosis, epilepsy, obesity, pregnancy, acromegaly, virilism, hypogonadism, hypertrichosis, hyperprolactinemia and diabetes [3,4,5] .…”

Section: Introductionmentioning

confidence: 99%

Early hyperostosis frontalis interna found incidentally by NaF18 PET/CT bone scan

Win

Aparici

2012

JBGC

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The patient is an 80 year old white male who was referred for NaF18 PET/CT bone scan to evaluate for possible prostate cancer metastasis. We found no evidence of prostate cancer metastasis but there was an incidental finding of early hyperostosis frontalis interna in bilateral inner tables of frontal bone on PET/CT scan. The thickness of the inner table of frontle bones was normal on CT scan images; however, increased osteoplastic activity consistent with early active hyperostosis frontalis interna was seen on NaF18 PET/CT images. The patient had no neuropsychological symptoms. To our knowledge, this is the first reported case of early hyperostosis frontalis interna found incidentally by NaF18 PET/CT.

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“…Smell and vision impairment and trigeminal neuralgia may occur later. It is a hereditary disorder that, to date, has been diagnosed in three related Dutch families only [2]. Besides HCI, numerous bone dysplasias with skull base and calvarial hyperostosis and osteosclerosis exist.…”

Section: Introductionmentioning

confidence: 99%

Bone metabolic activity in hyperostosis cranialis interna measured with 18F-fluoride PET

Waterval

Dongen

Stokroos

et al. 2010

Eur J Nucl Med Mol Imaging

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Purpose18F-Fluoride PET/CT is a relatively undervalued diagnostic test to measure bone metabolism in bone diseases. Hyperostosis cranialis interna (HCI) is a (hereditary) bone disease characterised by endosteal hyperostosis and osteosclerosis of the skull and the skull base. Bone overgrowth causes entrapment and dysfunction of several cranial nerves. The aim of this study is to compare standardised uptake values (SUVs) at different sites in order to quantify bone metabolism in the affected anatomical regions in HCI patients.MethodsNine affected family members, seven non-affected family members and nine non-HCI non-family members underwent 18F-fluoride PET/CT scans. SUVs were systematically measured in the different regions of interest: frontal bone, sphenoid bone, petrous bone and clivus. Moreover, the average 18F-fluoride uptake in the entire skull was measured by assessing the uptake in axial slides. Visual assessment of the PET scans of affected individuals was performed to discover the process of disturbed bone metabolism in HCI.Results18F-Fluoride uptake is statistically significantly higher in the sphenoid bone and clivus regions of affected family members. Visual assessment of the scans of HCI patients is relevant in detecting disease severity and the pattern of disturbed bone metabolism throughout life.Conclusion18F-Fluoride PET/CT is useful in quantifying the metabolic activity in HCI and provides information about the process of disturbed bone metabolism in this specific disorder. Limitations are a narrow window between normal and pathological activity and the influence of age. This study emphasises that 18F-fluoride PET/CT may also be a promising diagnostic tool for other metabolic bone disorders, even those with an indolent course.

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Phenotypic manifestations and management of hyperostosis cranialis interna, a hereditary bone dysplasia affecting the calvaria and the skull base

Cited by 10 publications

References 16 publications

Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis

Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis

Early hyperostosis frontalis interna found incidentally by NaF18 PET/CT bone scan

Bone metabolic activity in hyperostosis cranialis interna measured with 18F-fluoride PET

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