Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.3.1 (alkaline phosphatase)
 47,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The 3 cases of cherubism reported affected the mandible. They were all studied by means of histo-enzymological and ultrastructural methods. This study demonstrated 3 stages in the morphological evolution of the disease, corroborated by clinical data. The 1st stage was characterized by an osteolytic granuloma with round, fusiform and giant-cells and a high level of activity of acid phosphatase. The 2nd stage showed repair with proliferation of highly active fibroblasts (increase in activity of leucine aminopeptidase). The 3rd stage exhibited an osteogenesis with high activity of alkaline phosphatase and ATPase. The pathogenesis of this rare osteodysplasia is discussed.
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PMID:Cherubism. Histo-enzymological and ultrastructural study. 313 89

Autosomal dominant osteosclerosis (ADO), a rare inherited craniotubular bone disorder, is a generalized hyperostosis that manifests itself as increased cortical thickening of the skull, mandible, metacarpals, metatarsals, long bones, vertebral bodies, ribs, and clavicles. Jaw abnormalities, which clinically resemble the widening and deepening of the mandible seen in cherubism, begin in childhood and have been reported to stabilize after puberty. Teeth and alveolar bone are normal. ADO must be distinguished from Van Buchem's disease, which is characterized by elevated serum alkaline phosphatase, neurologic complications, exopthalmos, periosteal excrescences, and an autosomal recessive pattern of inheritance, as well as from other craniotubular bone disorders such as osteopetrosis. We present clinical and radiographic documentation of members of a kindred representing 4 generations affected with ADO. At initial examination of the proband, a differential diagnosis included cherubism, fibrous dysplasia, osteopetrosis, and Paget's disease. Radiographic examination revealed extensive radiopacity of the inferior border and basal bone of the mandible. The proband's clavicles and humerus were also affected. All family members examined were similarly affected and had mandibular and palatal tori. Authors of a previously published report on the dental and dentoalveolar management of patients with craniotubular bone disorders have recommended prophylactic antibiotics to minimize risk of osteomyelitis in all such cases. The members of our kindred received extensive dental treatment before diagnosis, including extractions of severely carious teeth, preprosthetic dentoalveolar surgery, and endodontic therapy; there was no incidence of osteomyelitis or postsurgical complications. Therefore, the use of prophylactic antibiotics may not be warranted in patients with ADO who have otherwise normal medical histories.
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PMID:Autosomal dominant osteosclerosis: report of a kindred. 1034 20

Various forms of bony deformations and dysplasias are often present in the facial skeleton. Bone defects can be either localized or general. Quite often they are not only present in the skull but also can be found in other parts of the skeleton. In many cases the presence and levels of specific bone markers should be measured in order to fully describe their activity and presence in the skeleton. Fibrous dysplasia (FD) is the most common one in the facial skeleton; however, other bone deformations regarding bone growth and activity can also be present. Every clinician should be aware of all common, rare and uncommon bony diseases and conditions such as cherubism, Paget's disease, osteogenesis imperfecta and others related to genetic conditions. We present standard (calcium, parathyroid hormone, calcitonin, alkaline phosphatase, vitamin D) and specialized bone markers (pyridinium, deoxypyridinium, hydroxyproline, RANKL/RANK/OPG pathway, growth hormone, insulin-like growth hormone-1) that can be used to evaluate, measure or describe the processes occurring in craniofacial bones.
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PMID:Bone markers in craniofacial bone deformations and dysplasias. 2656 43