No specific treatment exists for infantile cortical hyperostosis (Caffey disease). The disease is self-limited and usually resolves without sequelae.
Who discovered Caffey disease?
History. Dr.John Caffey (18951978) first described infantile cortical hyperostosis in 1945. He described a group of infants with tender swelling in the soft tissues and cortical thickenings in the skeleton, with onset of these findings during the first 3 months of life.
Is Caffey disease rare?
Caffey disease has been estimated to occur in approximately 3 per 1,000 infants worldwide. A few hundred cases have been described in the medical literature. Researchers believe this condition is probably underdiagnosed because it usually goes away by itself in early childhood.
What are symptoms of Caffey syndrome?
Caffey disease is a bone disorder that most often occurs in babies. It is characterized by the excessive formation of new bone (hyperostosis) in the jaw, shoulder blades, collarbones, and shafts of long bones in the arms and legs. Affected bones may double or triple in width.
What is Van Buchem disease?
Van Buchem disease is a hereditary sclerosing dysplasia of bone. Both dominant and autosomal recessive modes of transmission have been described. The dominant form tends to be a benign disorder and symptoms are usually confined to those associated with the enlargement of the jaw.
What causes osteopetrosis?
The X-linked type of osteopetrosis, OL-EDA-ID, results from mutations in the IKBKG gene. In about 30 percent of all cases of osteopetrosis, the cause of the condition is unknown. The genes associated with osteopetrosis are involved in the formation, development, and function of specialized cells called osteoclasts.
What happens in Paget’s disease?
Paget’s (PAJ-its) disease of bone interferes with your body’s normal recycling process, in which new bone tissue gradually replaces old bone tissue. Over time, bones can become fragile and misshapen. The pelvis, skull, spine and legs are most commonly affected.
Is Blount disease hereditary?
The cause of Blount disease is not well understood; however, a variety of hereditary and genetic factors are likely involved. The condition is more common among certain populations and is associated with obesity and early walking. Treatment may involve bracing and/or surgery.
What does Hyperostosis mean?
Medical Definition of hyperostosis : excessive growth or thickening of bone tissue. Other Words from hyperostosis. hyperostotic -tt-ik adjective.
What causes bones to harden?
Osteopetrosis (literally stone bone, also known as marble bone disease or Albers-Schonberg disease) is an extremely rare inherited disorder where the bones harden and become denser. The disorder can cause osteosclerosis. The estimated prevalence of osteopetrosis is 1 in 100,000 to 500,000.
What disease does tiny texie have?
WE tv’s Extreme Love introduces adult entertainer Tiny Texie and her girlfriend Anastasia. Meet Extreme Love’s Texie. The 27-year-old from Illinois, who goes by Tiny Texie, is a 3-foot-6-inch tall adult entertainer. She was born with Kenny-Caffey Syndrome, and is often mistaken for a child at first glance.
What is Cherubism disease?
Cherubism is a disorder characterized by abnormal bone tissue in the jaw. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.
Is osteogenesis imperfecta autosomal dominant?
When caused by mutations in the COL1A1 or COL1A2 gene, osteogenesis imperfecta has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition.
What is Sclerosteosis?
Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing …
Where is Sclerostin found?
Sclerotin is found in the cuticle (external covering) and egg cases of insects, the body shell (carapace) of certain crustaceans, and the bristles of terrestrial and marine worms.
Is osteopetrosis life threatening?
Osteopetrosis congenita results in bone marrow failure and is almost always fatal. Marble bone disease causes short stature, cerebral calcification and mental retardation.
How do you treat osteopetrosis?
For people with autosomal recessive osteopetrosis, the most severe form, allogenic hematopoietic stem cell transplantation (HSCT) can cure the condition. Most signs and symptoms (bone sclerosis, bone marrow failure, and extramedullary hematopoiesis) can be prevented or reversed by HSCT.
Why is osteopetrosis bad?
Osteoporosis causes bones to become weak and brittle so brittle that a fall or even mild stresses such as bending over or coughing can cause a fracture. Osteoporosis-related fractures most commonly occur in the hip, wrist or spine.
How long can you live with Paget’s disease?
The 5-year survival rate for a patient with Paget disease and sarcoma is 5-7.5%; however, it may be as high as 50% for those who undergo operative tumor ablation and chemotherapy before metastases occur. The 5-year survival rate for elderly patients with primary nonpagetic sarcoma is 37%.
What is the life expectancy of someone with Paget’s disease?
In that study, the British General Practice Research Database identified 2465 patients diagnosed with Paget’s disease of bone from 1988 to 1999; retrospective review indicated that 5-yr survival was 67% in patients with Paget’s disease compared with 72% in control patients.
What does Paget’s disease feel like?
Possible signs and symptoms of Paget’s disease of the breast include: Flaky or scaly skin on your nipple. Crusty, oozing or hardened skin resembling eczema on the nipple, areola or both. Itching.
Graduated from ENSAT (national agronomic school of Toulouse) in plant sciences in 2018, I pursued a CIFRE doctorate under contract with Sun’Agri and INRAE in Avignon between 2019 and 2022. My thesis aimed to study dynamic agrivoltaic systems, in my case in arboriculture. I love to write and share science related Stuff Here on my Website. I am currently continuing at Sun’Agri as an R&D engineer.