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Van Buchem Disease

Hyperostosis Corticalis Generalisata

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.


Presentation

Van Buchem disease (VBD) features excessive bone formation [1], 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 [2]. The more severe autosomal recessive type develops in the adolescent period while the benign autosomal dominant variant is apparent in childhood [3] [4]. 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 [5].

Complications

In addition to blindness and deafness, literature reports a case of increased intracranial pressure as a serious complication [6].

Physical exam

One study reported that VBD patients exhibit normal stature but deformed facial features such as an enlarged forehead and jaw [2], thereby characterizing macrocephaly and a prominent mandible as hallmark traits [7]. Furthermore, patients are likely to experience facial palsy, which develops in early childhood or even at birth, and most have a hearing impairment [2].

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 [8].

Soft Tissue Swelling
  • tissue swellings over the affected bones, fever, and irritability, and marked by periods of remission and exacerbation.[wellnessadvocate.com]
Back Pain
  • Intermittent headaches, peripheral facial palsy, recurrent bilateral trigeminal neuralgia, and back pain were also observed since age 40.[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]
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]
  • Our patient's images on March 30, 2017 showed (A) macrocephaly and (B) a protruding chin and frontal bossing.[ncbi.nlm.nih.gov]
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]
  • Our patient developed cranial neuropathies since the fifth decade of life. Her facial palsy, trigeminal neuralgia, and visual and hearing impairment were all bilateral.[ncbi.nlm.nih.gov]
Trigeminal Neuralgia
  • Intermittent headaches, peripheral facial palsy, recurrent bilateral trigeminal neuralgia, and back pain were also observed since age 40.[ncbi.nlm.nih.gov]
Clumsiness
  • 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]
Hyperactivity
  • Abstract Sclerosteosis and van Buchem disease (VBD) are two rare autosomal recessive disorders that results from osteoblast hyperactivity, in which progressive bone overgrowth leads to very dense bones, distortion of the face, and entrapment of cranial[ncbi.nlm.nih.gov]

Workup

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.

Laboratory

Bone formation biomarkers such as type I procollagen (PINP) and osteocalcin are profoundly elevated in patients with VBD [9] while alkaline phosphatase (ALP) may also be increased [10]. Additionally, urinary cross-linked N-telopeptide (NTx), a marker of resorption, is also high [9]. Sclerostin may be detectable as well [2].

Imaging

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 [9]. Moreover, the skull and mandible weigh heavily [7].

The predominant findings on imaging include significant overgrowth of the mandible and calvarium and sclerosis of involved bones [11]. Additionally, the surface of the bones appears to be rough and interrupted [11].

Treatment

  • 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]
  • HYPEROSTOSIS CORTICALIS GENERALISATA, Datagenno Interactive Research Overview Therapies & Treatments Scientific Articles Laboratories Foundations Forum Members Presentation, Natural History and Genetics List of Genes Reorder Groups Close Signs / Symptoms[datagenno.com]

Prognosis

  • Prognosis - Hyperostosis corticalis generalisata Not supplied. Treatment - Hyperostosis corticalis generalisata Not supplied. Resources - Hyperostosis corticalis generalisata Not supplied.[checkorphan.org]
  • Prognosis - Van Buchem disease type 2 (VBCH2) Not supplied. Treatment - Van Buchem disease type 2 (VBCH2) Not supplied. Resources - Van Buchem disease type 2 (VBCH2) Not supplied.[checkorphan.org]
  • 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]
  • 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]

Etiology

  • The probable etiology is a defect in the endochrondral modulatory step regulating transformation of osteoclast to osteoblast.[ncbi.nlm.nih.gov]

Epidemiology

  • 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]
Sex distribution
Age distribution

Pathophysiology



Prevention

  • Prevention - Hyperostosis corticalis generalisata Not supplied. Diagnosis - Hyperostosis corticalis generalisata Not supplied. Prognosis - Hyperostosis corticalis generalisata Not supplied.[checkorphan.org]
  • Prevention - Van Buchem disease type 2 (VBCH2) Not supplied. Diagnosis - Van Buchem disease type 2 (VBCH2) Not supplied. Prognosis - Van Buchem disease type 2 (VBCH2) Not supplied. Treatment - Van Buchem disease type 2 (VBCH2) 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]
  • 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]
  • Article Figures/Media Metrics 5 References 82 Citing Articles Article The Centers for Disease Control and Prevention recently estimated that more than 16 million Americans are living with cognitive impairment. 1 Cognitive impairment can be ascribed to[nejm.org]

Summary

Patient Information

References

Article

  1. Balemans W, Patel N, Ebeling M, et al. Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. J Med Genet. 2002;39(2):91-7.
  2. 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.
  3. Jacobs P. Van Buchem disease. Postgrad Med J. 1977;53(622):497-506.
  4. Schendel SA. Van Buchem disease: surgical treatment of the mandible. Ann Plast Surg. 1988;20(5):462-7.
  5. Van Buchem FS. Hyperostosis corticalis generalisata. Eight new cases. Acta Med Scand. 1971;189(4):257-67.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
  11. 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.

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Last updated: 2019-07-11 21:29