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 .
Entire Body System
GRAVE DIFFUSA C IPOPLASIA URETERALE B IPOPLASIA UTERO-VAGINALE CONGENITA C IPOPLASIA,APLASIA ED AGENESIA OVARICA C IPOPLASIA,APLASIA, AGENESIA DELLA TIROIDE A IPOPROTEINEMIA ESSENZIALE B IPOSIDEROSI CON ANEMIA C IPOSPADIA CONGENITA MARCATA C IPOSPADIA [yumpu.com]
The presence of skull bone involvement, gait and neurologic abnormalities, and anemia with extramedullary hemopoiesis favors Engelmann-Camurati over Ribbing disease. , ,  Van Buchem disease (hyperostosis corticalis generalisata familiaris) is [ijri.org]
Hemolytic anemia and thrombocytopenia are found and generalized lymphadenopathy has been noted in about 20 %. Bone marrow transplantation has been carried out for therapy [78, 89]. [slideheaven.com]
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]
J Bone Miner Res 2013; 28 :848–54. [ PubMed ] [ Google Scholar ]  Perdu B, Van Hul W. Sclerosing bone disorders: too much of a good thing. [ncbi.nlm.nih.gov]
- Muscle Weakness
The father presenting with the full picture of the disease (bony alterations, muscle weakness and neurological signs) whereas his children had no clinical signs, but were diagnosed as the result of radiographic investigations. [dokument.tips]
Muscle weakness is frequent, which retards walking, running, and jumping [266, 271,272, 274, 280]. Radiographic findings The skull reveals changes ("cotton ball patches") remarkably like those seen in Paget's disease. [slideheaven.com]
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Am J Hum Genet. 2002 May; 70(5):1368-75. View in: PubMed People People who have written about this concept. [profiles.jefferson.edu]
- 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]
Although her pain improved on the above, she frequently experienced drowsiness, dizziness, and nausea. In addition, she had frequent falls during this period. She also had a suicide attempt by overdose of sleeping pills in December 2016. [ncbi.nlm.nih.gov]
- Cranial 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 .
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]
To date, curative treatment for VBD is unavailable. Current treatments are strictly symptomatic. [ncbi.nlm.nih.gov]
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]
The probable etiology is a defect in the endochrondral modulatory step regulating transformation of osteoclast to osteoblast. [ncbi.nlm.nih.gov]
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
Ribbing disease is a nonhereditary sclerosing dysplasia of unknown etiology affecting the diaphyses of tubular bones with sparing of epiphyses; it especially affects the tibia and femur. [ijri.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.com]
The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.it]
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]
Atlanta: Centers for Disease Control and Prevention, 2011 ( http://www.cdc.gov/aging/pdf/cognitive_impairment/cogImp_genAud_final.pdf ). 2. Highlights of prescribing information: Amyvid (florbetapir F18 injection). [nejm.org]
- 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.
- 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.
- Jacobs P. Van Buchem disease. Postgrad Med J. 1977;53(622):497-506.
- Schendel SA. Van Buchem disease: surgical treatment of the mandible. Ann Plast Surg. 1988;20(5):462-7.
- Van Buchem FS. Hyperostosis corticalis generalisata. Eight new cases. Acta Med Scand. 1971;189(4):257-67.
- 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.