Van Buchem disease also referred to as hyperostosis corticalis generalisata, is a very rare hereditary osteosclerotic dysplasia. This disorder is marked by the excessive overgrowth of the mandible, skull, diaphysis of the long bones, ribs, clavicle, and pelvis.
Van Buchem disease (VBD) features excessive bone formation , in which there is symmetrical enlargement of the jaw, skull, ribs, clavicle, pelvis, diaphysis of the long bones, and tubular bones of the hands and feet. The bone overgrowth progresses with age but appears to stabilize in adulthood . The more severe autosomal recessive type develops in the adolescent period while the benign autosomal dominant variant is apparent in childhood  . The former type is associated with the symptomatology described below.
Since the hyperostotic bones of the skull create narrow cranial foramina, this leads to the compression of cranial nerves 5 (trigeminal), 7 (facial), 8 (vestibulocochlear), and 10 (vagus). Hence, the resultant manifestations include facial neuralgia, sensorineural hearing loss, and optic atrophy which can cause severe visual loss .
In addition to blindness and deafness, literature reports a case of increased intracranial pressure as a serious complication .
One study reported that VBD patients exhibit normal stature but deformed facial features such as an enlarged forehead and jaw , thereby characterizing macrocephaly and a prominent mandible as hallmark traits . Furthermore, patients are likely to experience facial palsy, which develops in early childhood or even at birth, and most have a hearing impairment .
With regards to differential diagnoses, there is a closely related disease known as sclerosteosis that can be differentiated based on physical characteristics such as tallness and hand deformity .
Entire Body System
It acts to reduce blood calcium, opposing the effects of parathyroid hormone, Calcitonin has been found in fish, reptiles and mammals. [wikivisually.com]
Most patients described by van Buchem resided in a small Dutch fishing village. Our patient is the first to receive a diagnosis of VBD in Taiwan. The bone tissue in VBD has a normal structure, with slight modeling defects. [ncbi.nlm.nih.gov]
- Severe Pain
Therefore, she was later treated with oral morphine (15 mg every 4 hours) and duloxetine (60 mg daily) for severe pain and depression. Although her pain improved on the above, she frequently experienced drowsiness, dizziness, and nausea. [ncbi.nlm.nih.gov]
Jaw & Teeth
- Bone Disorder
Caffey Disease ⌊ Body Sciences ⌊ Biological Stress ⌊ Sick Care Systems ⌊ Diseases ⌊ Musculoskeletal Health Challenges ⌊ Skeletal Diseases and Bone Diseases ⌊ Developmental Bone Disorders ⌊ Osteochondrodysplasias ⌊ Generalized Cortical Hyperostosis (Hyperostosis [wellnessadvocate.com]
Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture. [monarchinitiative.org]
Sclerosing bone disorders: too much of a good thing. Crit Rev Eukaryot Gene Expr 2010; 20 :195–212. [ PubMed ] [ Google Scholar ]  Beighton P, Barnard A, Hamersma H, et al. The syndromic status of sclerosteosis and van Buchem disease. [ncbi.nlm.nih.gov]
- Back Pain
[…] endosteal hyperostosis of the mandible, skull (both the calvaria and the cranial base), ribs, and clavicles as well as diaphysis of the long bones. [ 1 ] Therefore, VBD has been classified as one of the craniotubular hyperostoses. [ 2 ] Many subperiosteal osteophytes [ncbi.nlm.nih.gov]
- Long Arm
A somatic cell hybrid map of the long arm of human chromosome 17, containing the familial breast cancer locus (BRCA1). Am J Hum Genet. 1993 Apr; 52 (4):702–710. [ PMC free article ] [ PubMed ] [ Google Scholar ] Canalis E. [ncbi.nlm.nih.gov]
- Hand Deformity
With regards to differential diagnoses, there is a closely related disease known as sclerosteosis that can be differentiated based on physical characteristics such as tallness and hand deformity. [symptoma.com]
Face, Head & Neck
- Frontal Bossing
A 54-year-old woman developed a protruding chin, frontal bossing, and macrocephaly at the age of 40 years. She noted the onset of progressive bilateral visual and hearing impairment at the age of 40 and 45 years, respectively. [ncbi.nlm.nih.gov]
- High Forehead
All patients showed the characteristic features of protruding chin, high forehead, and facial nerve paralysis (Van Hul W, Balemans W, Van Hul E, et al. Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21. [iofbonehealth.org]
- Trigeminal Neuralgia
- Cranial Neuropathy
This autosomal recessive disease is characterized by progressive bone overgrowth, with narrowing of the neuroforamina in the skull causing cranial neuropathies. [ncbi.nlm.nih.gov]
She received surgical decompression for spinal stenosis in March 2017 for worsening back pain and progressive right arm clumsiness. After surgery, her back pain and right arm clumsiness improved considerably. [ncbi.nlm.nih.gov]
- Cranial Nerve Involvement
nerve involvement with recurrent facial nerve palsy, headaches, deafness, optic atrophy from narrowing of cranial foramina. [iofbonehealth.org]
Patients with a clinical picture suggestive of VBD should undergo a thorough evaluation of their personal and family history, a complete physical exam, and the appropriate studies.
Bone formation biomarkers such as type I procollagen (PINP) and osteocalcin are profoundly elevated in patients with VBD  while alkaline phosphatase (ALP) may also be increased . Additionally, urinary cross-linked N-telopeptide (NTx), a marker of resorption, is also high . Sclerostin may be detectable as well .
Radiography of the hand will allow for the measurement of key parameters. For example, bone mineral density, periosteal volume, cortical thickness, and metacarpal outer and inner diameter are all increased in VBD patients . Moreover, the skull and mandible weigh heavily .
The predominant findings on imaging include significant overgrowth of the mandible and calvarium and sclerosis of involved bones . Additionally, the surface of the bones appears to be rough and interrupted .
- Increased Bone Density
It is characterized by increased bone density and benign bony structures on the palate. Cause and Genetics Worth syndrome has an autosomal dominant pattern of inheritance. [ting.eudic.net]
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein -SOST-. Hum Mol Genet 10: 537 –543. Google Scholar Crossref Medline Balemans W, Patel N, Ebeling M, Van Hul E, Wuyts W, Lacza C, et al. - 2002 -. [doi.org]
Occasionally there is generalized increased bone density. Scoliosis is present in 401 at least 15 % of patients . Spina bifida occulta in the lumbar region is c o m m o n . Current bias This disorder was not discussed in our 1969 paper. [slideheaven.com]
She received symptomatic treatment and surgical decompression for spinal stenosis. Her clinical condition did not improve satisfactorily. We hope to promote clinician awareness of this very rare disease and its symptoms and signs. [ncbi.nlm.nih.gov]
Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.de]
The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]
Treatment - Hyperostosis corticalis generalisata Not supplied. Resources - Hyperostosis corticalis generalisata Not supplied. [checkorphan.org]
Prognosis - Hyperostosis corticalis generalisata Not supplied. Treatment - Hyperostosis corticalis generalisata Not supplied. Resources - Hyperostosis corticalis generalisata Not supplied. [checkorphan.org]
Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. Brain. 2004 Nov. 127:2533-9. [Medline]. Ruchoux MM, Maurage CA. [emedicine.medscape.com]
Patients have increased LDL values from birth, and an increased cardiovascular risk, making early diagnosis and treatment imperative for improved prognosis. Three main causative genes have been associated with FH: LDLR, APOB and PCSK9. [clinicalgenome.org]
Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.de]
Epidemiology Frequency United States The incidenceand prevalence of CADASIL in the United States are not known. International The incidence and prevalence of CADASIL worldwide are not known. [emedicine.medscape.com]
A genetic and epidemiological study. Clin Genet 31:86-90 109. Bollerslev J, Grodum E, Grcntved A (1987) Autosomal dominant osteopetrosis. J Laryngol Otol 101:1088-1091 110. [slideheaven.com]
Prevention - Hyperostosis corticalis generalisata Not supplied. Diagnosis - Hyperostosis corticalis generalisata Not supplied. Prognosis - Hyperostosis corticalis generalisata Not supplied. [checkorphan.org]
And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
N-linked, glycosylation can prevent glycoprotein folding and full inhibition can be toxic to an individual cell. [wikivisually.com]
Clinical Actionability Tools Clinical Actionability tools support the curation process is to identify those human genes that, when significantly altered, confer a high risk of serious disease that could be prevented or mitigated if the risk were known [clinicalgenome.org]
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- van Lierop AH, Hamdy NA, van Egmond ME, et al. Van Buchem disease: clinical, biochemical, and densitometric features of patients and disease carriers. J Bone Miner Res. 2013;28(4):848-54.
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- Van Buchem FS, Hadders HN, Ubbens R. An uncommon familial systemic disease of the skeleton: hyperostosis corticalis generalisata familiaris. Acta radiol. 1955;44(2):109-20.
- Van Hul W, Balemans W,Van Hul E, et al. Van Buchem Disease (Hyperostosis Corticalis Generalisata) Maps to Chromosome 17q12-q21. Am. J. Hum. Genet. 1998; 62(2):391–399.
- Balemans W, Ebeling M, Patel N, et al. Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). Hum Mol Genet. 2001;10(5):537-43.
- Wergedal JE, Veskovic K, Hellan M, et al. Patients with Van Buchem disease, an osteosclerotic genetic disease, have elevated bone formation markers, higher bone density, and greater derived polar moment of inertia than normal. J Clin Endocrinol Metab. 2003;88(12):5778-83.
- van Bezooijen RL1, ten Dijke P, Papapoulos SE, Löwik CW. SOST/sclerostin, an osteocyte-derived negative regulator of bone formation. Cytokine Growth Factor Rev. 2005;16(3):319-27.
- Beighton G, Barnard A, Hamersma H, Van der Wouden. The syndromic status of sclerosteosis and van Buchem disease. Clin Genet. 1984; 25(2):175–181.