Diagnosis
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| Leri pleonosteosis | |
|---|---|
| Specialty | Rheumatology |
Leri's pleonosteosis is a rare rheumatic condition. It was first described by the French physician Leri in 1921. [1]
The clinical features of this condition include[ citation needed ]
Thickening of the skin may occur in a fashion similar to that occurs in scleroderma. The thumbs may be angled in a lateral direction (valgus deformity). The knees may be angled backwards (genu recurvatum). Abnormalities of the upper spinal cord may also occur.[ citation needed ]
It is inherited in an autosomal dominant fashion.[ citation needed ]The pathogenesis of this condition appears to be due to over expression of two genes - GDF6 and SDC2. [2] These genes are located on the long arm of chromosome 8(8q22.1).
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Sjögren's syndrome is a long-term autoimmune disease that affects the body's moisture-producing glands, and often seriously affects other organs systems, such as the lungs, kidneys, and nervous system. Primary symptoms are dryness, pain and fatigue. Other symptoms can include dry skin, vaginal dryness, a chronic cough, numbness in the arms and legs, feeling tired, muscle and joint pains, and thyroid problems. Those affected are also at an increased risk (5%) of lymphoma.
Scoliosis is a medical condition in which a person's spine has a sideways curve. The curve is usually "S"- or "C"-shaped over three dimensions. In some, the degree of curve is stable, while in others, it increases over time. Mild scoliosis does not typically cause problems, but severe cases can interfere with breathing. Pain is usually present in adults, and can worsen with age.
TAR syndrome is a rare genetic disorder that is characterized by the absence of the radius bone in the forearm and a dramatically reduced platelet count.
Hirschsprung's disease is a birth defect in which nerves are missing from parts of the intestine. The most prominent symptom is constipation. Other symptoms may include vomiting, abdominal pain, diarrhea and slow growth. Symptoms usually become apparent in the first two months of life. Complications may include enterocolitis, megacolon, bowel obstruction and intestinal perforation.
Rheumatic fever (RF) is an inflammatory disease that can involve the heart, joints, skin, and brain. The disease typically develops two to four weeks after a streptococcal throat infection. Signs and symptoms include fever, multiple painful joints, involuntary muscle movements, and occasionally a characteristic non-itchy rash known as erythema marginatum. The heart is involved in about half of the cases. Damage to the heart valves, known as rheumatic heart disease (RHD), usually occurs after repeated attacks but can sometimes occur after one. The damaged valves may result in heart failure, atrial fibrillation and infection of the valves.
Ankylosing spondylitis (AS) is a type of arthritis in which there is a long-term inflammation of the joints of the spine. Typically the joints where the spine joins the pelvis are also affected. Occasionally other joints such as the shoulders or hips are involved. Eye and bowel problems may also occur. Back pain is a characteristic symptom of AS, and it often comes and goes. Stiffness of the affected joints generally worsens over time.
Paget's disease of bone is a condition involving cellular remodeling and deformity of one or more bones. The affected bones show signs of dysregulated bone remodeling at the microscopic level, specifically excessive bone breakdown and subsequent disorganized new bone formation. These structural changes cause the bone to weaken, which may result in deformity, pain, fracture or arthritis of associated joints.
Primary familial brain calcification (PFBC), also known as familial idiopathic basal ganglia calcification (FIBGC) and Fahr's disease, is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement. Through the use of CT scans, calcifications are seen primarily in the basal ganglia and in other areas such as the cerebral cortex.
Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw. Heart problems may include pulmonary valve stenosis. The breast bone may either protrude or be sunken, while the spine may be abnormally curved. Intelligence in the syndrome is often normal. Complications of NS can include leukemia.
Klippel–Feil syndrome (KFS), also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck. It results in a limited ability to move the neck and shortness of the neck, resulting in the appearance of a low hairline.
Calcium pyrophosphate dihydrate (CPPD) crystal deposition disease, also known as pseudogout and pyrophosphate arthropathy, is a rheumatologic disease which is thought to be secondary to abnormal accumulation of calcium pyrophosphate dihydrate crystals within joint soft tissues. The knee joint is most commonly affected.
Pachydermoperiostosis (PDP) is a rare genetic disorder that affects both bones and skin. Other names are idiopathic hypertrophic osteoarthropathy or Touraine-Solente-Golé syndrome. It is mainly characterized by pachyderma, periostosis and finger clubbing.
Madelung's deformity is usually characterized by malformed wrists and wrist bones and is often associated with Léri-Weill dyschondrosteosis. It can be bilateral or just in the one wrist. It has only been recognized within the past hundred years. Named after Otto Wilhelm Madelung (1846–1926), a German surgeon, who described it in detail, it was noted by others. Guillaume Dupuytren mentioned it in 1834, Auguste Nélaton in 1847, and Joseph-François Malgaigne in 1855.
Growth differentiation factors (GDFs) are a subfamily of proteins belonging to the transforming growth factor beta superfamily that have functions predominantly in development.
Growth differentiation factor 2 (GDF2) also known as bone morphogenetic protein (BMP)-9 is a protein that in humans is encoded by the GDF2 gene. GDF2 belongs to the transforming growth factor beta superfamily.
Arthritis mutilans is a rare medical condition involving severe inflammation damaging the joints of the hands and feet, and resulting in deformation and problems with moving the affected areas; it can also affect the spine. As an uncommon arthropathy, arthritis mutilans was originally described as affecting the hands, feet, fingers, and/or toes, but can refer in general to severe derangement of any joint damaged by arthropathy. First described in modern medical literature by Marie and Leri in 1913, in the hands, arthritis mutilans is also known as opera glass hand, or chronic absorptive arthritis. Sometimes there is foot involvement in which toes shorten and on which painful calluses develop in a condition known as opera glass foot, or pied en lorgnette.
Cryopyrin-associated periodic syndrome is a group of rare, heterogeneous autoinflammatory disease characterized by interleukin 1β-mediated systemic inflammation and clinical symptoms involving skin, joints, central nervous system, and eyes. It encompasses a spectrum of three clinically overlapping autoinflammatory syndromes including familial cold autoinflammatory syndrome, the Muckle–Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease that were originally thought to be distinct entities, but in fact share a single genetic mutation and pathogenic pathway, and keratoendotheliitis fugax hereditaria in which the autoinflammatory symptoms affect only the anterior segment of the eye.
22q11.2 distal deletion syndrome is a rare genetic condition caused by a tiny missing part of one of the body’s 46 chromosomes – chromosome 22. 22q11.2 distal deletion syndrome appears to be a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.
PLAID syndrome is an inherited condition characterised by antibody deficiency and immune dysregulation, first described in 2012. The name is an acronym of "PLCG2-associated antibody deficiency and immune dysregulation". It is characterised by cold-induced urticaria, autoimmunity, atopy and humoral immune deficiency.
Adenosine deaminase 2 deficiency (DADA2) is a vasculitis syndrome. It is due to mutations in the ADA2 gene which encodes the adenosine deaminase 2 protein. The clinical features of this condition are protean and it may be easily missed.
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