Polyostotic fibrous dysplasia | |
---|---|
Other names | Albright's disease [1] : 578 |
Specialty | Osteology |
Polyostotic fibrous dysplasia is a form of fibrous dysplasia affecting more than one bone. [2] Fibrous dysplasia is a disorder where bone is replaced by fibrous tissue, leading to weak bones, uneven growth, and deformity. [3]
McCune–Albright syndrome includes polyostotic fibrous dysplasia as part of its presentation. [4] When polyostotic fibrous dysplasia manifests in the long bones, limping results; when it manifests in the face, asymmetric growth of the face can result. [3]
One treatment that has been used is bisphosphonates. [5]
Dwarfism is a condition wherein an organism is exceptionally small, and mostly occurs in the animal kingdom. In humans, it is sometimes defined as an adult height of less than 147 centimetres, regardless of sex; the average adult height among people with dwarfism is 120 centimetres (4 ft). Disproportionate dwarfism is characterized by either short limbs or a short torso. In cases of proportionate dwarfism, both the limbs and torso are unusually small. Intelligence is usually normal, and most have a nearly normal life expectancy. People with dwarfism can usually bear children, though there are additional risks to the mother and child depending upon the underlying condition.
Café au lait spots, or café au lait macules, are flat, hyperpigmented birthmarks. The name café au lait is French for "coffee with milk" and refers to their light-brown color. They are caused by a collection of pigment-producing melanocytes in the epidermis of the skin. These spots are typically permanent and may grow or increase in number over time.
Fibrodysplasia ossificans progressiva, also called Münchmeyer disease or formerly myositis ossificans progressiva, is an extremely rare connective tissue disease in which fibrous connective tissue such as muscle, tendons, and ligaments turn into bone tissue (ossification). It is the only known medical condition where one organ system changes into another. It is a severe, disabling disorder with no cure.
Fibrous dysplasia is a very rare nonhereditary genetic disorder where normal bone and marrow is replaced with fibrous tissue, resulting in formation of bone that is weak and prone to expansion. As a result, most complications result from fracture, deformity, functional impairment, pain, and the impingement of nerves. Disease occurs along a broad clinical spectrum ranging from mostly asymptomatic incidental lesions, to severe disabling disease. Disease can affect one bone (monostotic), multiple (polyostotic), or all bones (panostotic) and may occur in isolation or in combination with café au lait skin macules and hyperfunctioning endocrinopathies, termed McCune–Albright syndrome. More rarely, fibrous dysplasia may be associated with intramuscular myxomas, termed Mazabraud's syndrome. Fibrous dysplasia is very rare, and there is no known cure. While fibrous dysplasia is not itself a form of cancer, in severe cases it may undergo a malignant transformation into cancers such as osteosarcoma or chondrosarcoma, so some clinicians may regard it as precancerous rather than benign.
Dysplasia is any of various types of abnormal growth or development of cells or organs, and the abnormal histology or anatomical structure(s) resulting from such growth. Dysplasias on a mainly microscopic scale include epithelial dysplasia and fibrous dysplasia of bone. Dysplasias on a mainly macroscopic scale include hip dysplasia, myelodysplastic syndrome, and multicystic dysplastic kidney.
Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. The name of the condition indicates that it affects hearing (oto-) and the bones of the spine (spondylo-), and enlarges the ends of bones (megaepiphyses).
Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name is derived from the temporary chubby-cheeked resemblance to putti, the chubby-faced infants featured in Renaissance paintings, which were often mistakenly described as cherubs.
Leontiasis ossea, also known as leontiasis, lion face or lion face syndrome, is a rare medical condition, characterized by an overgrowth of the facial and cranial bones. It is not a disease in itself, but a symptom of other diseases, including Paget's disease, fibrous dysplasia, hyperparathyroidism and renal osteodystrophy.
Collagen, type II, alpha 1 , also known as COL2A1, is a human gene that provides instructions for the production of the pro-alpha1(II) chain of type II collagen.
McCune–Albright syndrome is a complex genetic disorder affecting the bone, skin and endocrine systems. It is a mosaic disease arising from somatic activating mutations in GNAS, which encodes the alpha-subunit of the Gs heterotrimeric G protein.
Dentinogenesis imperfecta (DI) is a genetic disorder of tooth development. It is inherited in an autosomal dominant pattern, as a result of mutations on chromosome 4q21, in the dentine sialophosphoprotein gene (DSPP). It is one of the most frequently occurring autosomal dominant features in humans. Dentinogenesis imperfecta affects an estimated 1 in 6,000-8,000 people.
GNAS complex locus is a gene locus in humans. Its main product is the heterotrimeric G-protein alpha subunit Gs-α, a key component of G protein-coupled receptor-regulated adenylyl cyclase signal transduction pathways. GNAS stands for Guanine Nucleotide binding protein, Alpha Stimulating activity polypeptide.
An osteochondrodysplasia, or skeletal dysplasia, is a disorder of the development of bone and cartilage. Osteochondrodysplasias are rare diseases. About 1 in 5,000 babies are born with some type of skeletal dysplasia. Nonetheless, if taken collectively, genetic skeletal dysplasias or osteochondrodysplasias comprise a recognizable group of genetically determined disorders with generalized skeletal affection. These disorders lead to disproportionate short stature and bone abnormalities, particularly in the arms, legs, and spine. Skeletal dysplasia can result in marked functional limitation and even mortality.
Monostotic fibrous dysplasia is a form of fibrous dysplasia where only one bone is involved. It comprises a majority of the cases of fibrous dysplasia.
Fuller Albright was an American endocrinologist who made numerous contributions to his field, especially to the area of calcium metabolism. Albright made great strides and contributions to the understanding of disorders associated with calcium and phosphate abnormalities in the body. He also was a published author and in his books he detailed his findings.
Pili torti is characterized by short and brittle hairs that appear flattened and twisted when viewed through a microscope.
A facial cleft is an opening or gap in the face, or a malformation of a part of the face. Facial clefts is a collective term for all sorts of clefts. All structures like bone, soft tissue, skin etc. can be affected. Facial clefts are extremely rare congenital anomalies. There are many variations of a type of clefting and classifications are needed to describe and classify all types of clefting. Facial clefts hardly ever occur isolated; most of the time there is an overlap of adjacent facial clefts.
Asphyxiating thoracic dysplasia (ATD), also known as Jeune syndrome, is a rare inherited bone growth disorder that primarily affects the thoracic region. It was first described in 1955 by the French pediatrician Mathis Jeune. Common signs and symptoms can include a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). The restricted growth and expansion of the lungs caused by this disorder results in life-threatening breathing difficulties; occurring in 1 in every 100,000-130,000 live births in the United States.
Eiken syndrome, also known as "Eiken skeletal dysplasia", is a rare autosomal bone dysplasia with a skeletal phenotype which has been described in a unique consanguineous family, where it segregates as a recessive trait. First described in 1985, the syndrome primarily affects the development of bones, leading to short stature, long limbs, and joint dislocations. Eiken syndrome is caused by mutations in the PTH1R gene, located on chromosome 3, and is involved in skeletal development.
Clair A. Francomano is an American medical geneticist and academic specializing in Ehlers–Danlos syndromes. She is Professor of Medical and Molecular Genetics at Indiana University.