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Majeed Syndrome
Majeed syndrome is an inherited skin disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and a neutrophilic dermatosis. It is classified as an autoinflammatory bone disorder. The condition is found in people with two defective copies (autosomal recessive inheritance) of the LPIN2 gene. LPIN2 encodes lipin-2 which is involved in lipid metabolism. The pathogenesis of this mutation with the clinical manifestations has not been elucidated. Treatments Treatments for this disorder are often based on what symptoms are present in the patient. Most commonly prescribed treatments include nonsteroidal anti-inflammatory drugs (NSAIDs), as well as physical therapy in order to prevent from muscle atrophy in patients. Red blood transfusions could also be done for patients with severe congenital dyserythrypoietic anemia (CDA). See also * TNF receptor associated periodic syndrome TNF receptor associated periodic syndrome (TRAPSsubscrip ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chronic Recurrent Multifocal Osteomyelitis
Chronic recurrent multifocal osteomyelitis (CRMO) is a rare condition (1:1,000,000), in which the bones have lesions, inflammation, and pain. It is called ''multifocal'' because it can appear in different parts of the body, primarily bones, and ''osteomyelitis'' because it is very similar to that disease, although CRMO appears to be without any infection. The definition of CRMO is evolving. Many doctors and articles described CRMO as an autoimmune disease that has symptoms similar to osteomyelitis, but without the infection. Some doctors thought CRMO was related to SAPHO syndrome. Research now classifies CRMO as an inherited autoinflammatory disease but have yet to isolate the exact gene or other causes responsible for it. Symptoms and signs Symptoms may include bone and joint pain, skin redness or inflammation, Inflammatory bowel disease, Psoriasis, and Blister-like lesions on the palms and/or soles of the feet. Cause Some specialists believe they have discovered a link ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Dyserythropoietic Anemia
Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. CDA is one of many types of anemia, characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. CDA may be transmitted by both parents autosomal recessively or dominantly. Signs and symptoms The symptoms and signs of congenital dyserythropoietic anemia are consistent with: * Tiredness (fatigue) * Weakness * Pale skin Types Congenital dyserythropoietic anemia has four different subtypes, CDA Type I, CDA Type II, CDA Type III, and CDA Type IV. CDA type II (CDA II) is the most frequent type of congenital dyserythropoietic anemias. Diagnosis The diagnosis of congenital dyserythropoietic anemia can be done via sequence analysis of the entire coding region, types I, II, III and IV ( is a relatively new form of CDA that had been found, just 4 cases have been r ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autoinflammatory
Periodic fever syndromes are a set of disorders characterized by recurrent episodes of systemic and organ-specific inflammation. Unlike autoimmune disorders such as systemic lupus erythematosus, in which the disease is caused by abnormalities of the adaptive immune system, people with autoinflammatory diseases do not produce autoantibodies or antigen-specific T or B cells. Instead, the autoinflammatory diseases are characterized by errors in the innate immune system. The syndromes are diverse, but tend to cause episodes of fever, joint pains, skin rashes, abdominal pains and may lead to chronic complications such as amyloidosis. Most autoinflammatory diseases are genetic and present during childhood. The most common genetic autoinflammatory syndrome is familial Mediterranean fever, which causes short episodes of fever, abdominal pain, serositis, lasting less than 72 hours. It is caused by mutations in the MEFV gene, which codes for the protein pyrin. Pyrin is a protein n ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TNF Receptor Associated Periodic Syndrome
TNF receptor associated periodic syndrome (TRAPSsubscription needed) is a periodic fever syndrome associated with mutations in a receptor for the molecule tumor necrosis factor (TNF) that is inheritable in an autosomal dominant manner. Individuals with TRAPS have episodic symptoms such as recurrent high fevers, rash, abdominal pain, joint/muscle aches and puffy eyes. Symptoms and signs TNF receptor associated periodic syndrome presents with the following signs and symptoms: * Episodic fever * Elevated erythrocyte sedimentation rate * Pericarditis * Splenomegaly * Uveitis * Vertigo Cause TNF receptor associated periodic syndrome is autosomal dominant, and about 70 mutations of the TNFRSF1A gene have been linked to this condition. Its cytogenetic location is at 12p13.31. Mechanism The main source of TNF (tumor necrosis factor) are cells in the immune system called macrophages which produce it in response to infection and other stimuli. TNF helps activate other immune cells and pl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Cutaneous Conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against the external environment. The skin weighs an average of four kilograms, covers an area of two square metres, and is made of three distinct layers: the epidermis, dermis, and subcutaneous tissue. The two main types of human skin are: glabrous skin, the hairless skin on the palms and soles (also referred to as the "palmoplantar" surfaces), and hair-bearing skin.Burns, Tony; ''et al''. (2006) ''Rook's Textbook of Dermatology CD-ROM''. Wiley-Blackwell. . Within the latter type, the hairs occur in structures called pilosebaceous units, each with hair follicle, sebaceous gland, and associated arrector pili muscle. In the embryo, the epidermis, hair, and glands form from the ectoderm, which is chemically influenced by the underlying mesoderm th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autoinflammatory Syndromes
Periodic fever syndromes are a set of disorders characterized by recurrent episodes of systemic and organ-specific inflammation. Unlike autoimmune disorders such as systemic lupus erythematosus, in which the disease is caused by abnormalities of the adaptive immune system, people with autoinflammatory diseases do not produce autoantibodies or antigen-specific T or B cells. Instead, the autoinflammatory diseases are characterized by errors in the innate immune system. The syndromes are diverse, but tend to cause episodes of fever, joint pains, skin rashes, abdominal pains and may lead to chronic complications such as amyloidosis. Most autoinflammatory diseases are genetic and present during childhood. The most common genetic autoinflammatory syndrome is familial Mediterranean fever, which causes short episodes of fever, abdominal pain, serositis, lasting less than 72 hours. It is caused by mutations in the MEFV gene, which codes for the protein pyrin. Pyrin is a protein norma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
