| Axial osteomalacia | |
|---|---|
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| Axial osteomalacia is inherited in an autosomal dominant manner | |
| Specialty | Orthopedic |
Axial osteomalacia is a rare osteosclerotic disorder characterized by axial skeleton pain, coarsening of the trabecular bone pattern on radiographs of the axial but not appendicular skeleton. [1]
A skeleton is the structural frame that supports the body of most animals. There are several types of skeletons, including the exoskeleton, which is a rigid outer shell that holds up an organism's shape; the endoskeleton, a rigid internal frame to which the organs and soft tissues attach; and the hydroskeleton, a flexible internal structure supported by the hydrostatic pressure of body fluids.
The human skeleton is the internal framework of the human body. It is composed of around 270 bones at birth – this total decreases to around 206 bones by adulthood after some bones get fused together. The bone mass in the skeleton makes up about 14% of the total body weight and reaches maximum mass between the ages of 25 and 30. The human skeleton can be divided into the axial skeleton and the appendicular skeleton. The axial skeleton is formed by the vertebral column, the rib cage, the skull and other associated bones. The appendicular skeleton, which is attached to the axial skeleton, is formed by the shoulder girdle, the pelvic girdle and the bones of the upper and lower limbs.
The appendicular skeleton is the portion of the skeleton of vertebrates consisting of the bones that support the appendages. There are 126 bones. The appendicular skeleton includes the skeletal elements within the limbs, as well as supporting shoulder girdle and pelvic girdle. The word appendicular is the adjective of the noun appendage, which itself means a part that is joined to something larger.
Osteomalacia is a disease characterized by the softening of the bones caused by impaired bone metabolism primarily due to inadequate levels of available phosphate, calcium, and vitamin D, or because of resorption of calcium. The impairment of bone metabolism causes inadequate bone mineralization. Osteomalacia in children is known as rickets, and because of this, use of the term "osteomalacia" is often restricted to the milder, adult form of the disease. Signs and symptoms can include diffuse body pains, muscle weakness, and fragility of the bones. In addition to low systemic levels of circulating mineral ions that result in decreased bone and tooth mineralization, accumulation of mineralization-inhibiting proteins and peptides, and small inhibitory molecules, can occur in the extracellular matrix of bones and teeth, contributing locally to cause matrix hypomineralization (osteomalacia/odontomalacia). A relationship describing local, physiologic double-negative regulation of mineralization has been termed the Stenciling Principle of mineralization, whereby enzyme-substrate pairs imprint mineralization patterns into the extracellular matrix by degrading mineralization inhibitors. The Stenciling Principle for mineralization is particularly relevant to the osteomalacia and odontomalacia observed in hypophosphatasia (HPP) and X-linked hypophosphatemia (XLH).
The axial skeleton is the part of the skeleton that consists of the bones of the head and trunk of a vertebrate. In the human skeleton, it consists of 80 bones and is composed of six parts; the skull, also the ossicles of the middle ear, the hyoid bone, the rib cage, sternum and the vertebral column. The axial skeleton together with the appendicular skeleton form the complete skeleton. Another definition of axial skeleton is the bones including the vertebrae, sacrum, coccyx, skull, ribs, and sternum.
Hypophosphatasia (; also called deficiency of alkaline phosphatase, phosphoethanolaminuria, or Rathbun's syndrome; sometimes abbreviated HPP) is a rare, and sometimes fatal, inherited metabolic bone disease. Clinical symptoms are heterogeneous, ranging from the rapidly fatal, perinatal variant, with profound skeletal hypomineralization, respiratory compromise or vitamin B6 dependent seizures to a milder, progressive osteomalacia later in life. Tissue non-specific alkaline phosphatase (TNSALP) deficiency in osteoblasts and chondrocytes impairs bone mineralization, leading to rickets or osteomalacia. The pathognomonic finding is subnormal serum activity of the TNSALP enzyme, which is caused by one of 388 genetic mutations identified to date, in the gene encoding TNSALP. Genetic inheritance is autosomal recessive for the perinatal and infantile forms but either autosomal recessive or autosomal dominant in the milder forms.
Ilokelesia is an extinct genus of abelisaurid theropod, preserved in the layers of the earliest Late Cretaceous of the Huincul Formation, Neuquén Group, located near Plaza Huincul, Neuquén Province, Argentina. The specimen, consisting of very fragmentary elements of the skull and the axial and appendicular skeleton, was described by Rodolfo Coria and Leonardo Salgado in late 1998.
Phosphate-regulating endopeptidase homolog X-linked also known as phosphate-regulating gene with homologies to endopeptidases on the X chromosome or metalloendopeptidase homolog PEX is an enzyme that in humans is encoded by the PHEX gene. This gene contains 18 exons and is located on the X chromosome.
Archeria is a genus of embolomere which lived in the Early Permian of Texas and Oklahoma. It was a medium-sized aquatic predator, with an elongated body and tail. The limbs were proportionally small but well-developed, connected to robust limb girdles. The skull was moderately long and low, up to 30 cm in length. Unlike most embolomeres, Archeria had many small chisel-shaped teeth instead of large fangs.
Homeobox protein Hox-D11 is a protein that in humans is encoded by the HOXD11 gene.
The facial skeleton comprises the facial bones that may attach to build a portion of the skull. The remainder of the skull is the neurocranium.
A pathologic fracture is a bone fracture caused by weakness of the bone structure that leads to decrease mechanical resistance to normal mechanical loads. This process is most commonly due to osteoporosis, but may also be due to other pathologies such as cancer, infection, inherited bone disorders, or a bone cyst. Only a small number of conditions are commonly responsible for pathological fractures, including osteoporosis, osteomalacia, Paget's disease, Osteitis, osteogenesis imperfecta, benign bone tumours and cysts, secondary malignant bone tumours and primary malignant bone tumours.
Birgeria is a genus of carnivorous marine ray-finned fish from the Triassic period. Birgeria had a global distribution. Fossils were found in Madagascar, Spitsbergen, Germany, Switzerland, Italy, Slovenia, China, Russia, Canada and Nevada, United States. The oldest fossils are from Griesbachian aged beds of the Wordie Creek Formation of East Greenland.
NK3 homeobox 2 also known as NKX3-2 is a human gene. It is a homolog of bagpipe (bap) in Drosophila and therefore also known as Bapx1. The protein encoded by this gene is a homeodomain containing transcription factor.
Oncogenic osteomalacia, also known as oncogenic hypophosphatemic osteomalacia, is an uncommon disorder resulting in increased renal phosphate excretion, hypophosphatemia and osteomalacia. It may be caused by a phosphaturic mesenchymal tumor.
Normanniasaurus is an extinct genus of basal titanosaur sauropod known from the Early Cretaceous Poudingue Ferrugineux of Seine-Maritime, northwestern France.
Burosumab, sold under the brand name Crysvita, is a human monoclonal antibody medication approved 2018 for the treatment of X-linked hypophosphatemia and tumor-induced osteomalacia.
Notatesseraeraptor is a genus of carnivorous theropod dinosaur that lived during the Late Triassic of what is now Switzerland. It was found in the Gruhalde Member of the Klettgau Formation. It was an early member of Neotheropoda with affinities to Dilophosaurus and Averostra. The new genus and species Notatesseraeraptor frickensis was named by Marion Zahner and colleagues in 2019.
Bagualia, is an extinct genus of eusauropod dinosaur, from the Early Jurassic Epoch in what is now Argentina. The type species, B. alba, was formally described in 2020.
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