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List Of Radiographic Findings Associated With Cutaneous Conditions
Many conditions of or affecting the human integumentary system have associated features that may be found by performing an x-ray or CT scan of the affected person. See also * List of cutaneous conditions * List of contact allergens * List of cutaneous conditions associated with internal malignancy * List of cutaneous conditions caused by mutations in keratins * List of cutaneous conditions caused by problems with junctional proteins * List of genes mutated in cutaneous conditions * List of histologic stains that aid in diagnosis of cutaneous conditions * List of immunofluorescence findings for autoimmune bullous conditions * List of inclusion bodies that aid in diagnosis of cutaneous conditions * List of keratins expressed in the human integumentary system * List of specialized glands within the human integumentary system * List of target antigens in pemphigoid * List of target antigens in pemphigus Circulating auto-antibodies in the human body can target normal parts of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Osteopathia Striata
Osteopathia striata is a rare entity characterized by fine linear striations about 2- to 3-mm-thick, visible by radiology, radiographic examination, in the metaphyses and diaphyses of long or flat bones. It is often asymptomatic, and is often discovered incidentally. See also * List of radiographic findings associated with cutaneous conditions References Radiologic signs {{med-sign-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cartilage–hair Hypoplasia
Cartilage–hair hypoplasia (CHH) is a rare genetic disorder. Symptoms may include short-limbed dwarfism due to skeletal dysplasia, variable level of immunodeficiency, and predisposition to cancer. It was first reported by Victor McKusick in 1965. Signs and symptoms * Short limb dwarfism * Very fine, light hairs and eyebrows * Hyperextensible joints of hand and feet * Abnormalities of spine * Neutropenia * Defective antibody and cell mediated immunity Genetics CHH is an autosomal recessive In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and ... inherited disorder. It is a highly pleiotropic disorder. A rarely encountered genetic phenomenon, known as uniparental disomy (a genetic circumstance where a child inherits two copies of a chromosome from one parent, as opposed to one copy fr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Severe Combined Immunodeficiency
Severe combined immunodeficiency (SCID), also known as Swiss-type agammaglobulinemia, is a rare genetic disorder characterized by the disturbed development of functional T cells and B cells caused by numerous genetic mutations that result in differing clinical presentations. SCID involves defective antibody response due to either direct involvement with B lymphocytes or through improper B lymphocyte activation due to non-functional T-helper cells. Consequently, both "arms" (B cells and T cells) of the adaptive immune system are impaired due to a defect in one of several possible genes. SCID is the most severe form of primary immunodeficiencies, and there are now at least nine different known genes in which mutations lead to a form of SCID. It is also known as the bubble boy disease and bubble baby disease because its victims are extremely vulnerable to infectious diseases and some of them, such as David Vetter, have become famous for living in a sterile environment. SCID is t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Absent Thymus
The thymus is a specialized primary lymphoid organ of the immune system. Within the thymus, thymus cell lymphocytes or ''T cells'' mature. T cells are critical to the adaptive immune system, where the body adapts to specific foreign invaders. The thymus is located in the upper front part of the chest, in the anterior superior mediastinum, behind the sternum, and in front of the heart. It is made up of two lobes, each consisting of a central medulla and an outer cortex, surrounded by a capsule. The thymus is made up of immature T cells called thymocytes, as well as lining cells called epithelial cells which help the thymocytes develop. T cells that successfully develop react appropriately with MHC immune receptors of the body (called ''positive selection'') and not against proteins of the body (called ''negative selection''). The thymus is largest and most active during the neonatal and pre-adolescent periods. By the early teens, the thymus begins to decrease in size and ac ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gaucher Syndrome
Gaucher's disease or Gaucher disease () (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as glucosylceramidase), which acts on glucocerebroside. When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells and especially in macrophages (mononuclear leukocytes, which is often a target for intracellular parasites). Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain, and bone marrow. Manifestations may include enlarged spleen and liver, liver malfunction, skeletal disorders or bone lesions that may be painful, severe neurological complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brown ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Erlenmeyer Flask Deformity Of The Femur
Gaucher's disease or Gaucher disease () (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as glucosylceramidase), which acts on glucocerebroside. When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells and especially in macrophages (mononuclear leukocytes, which is often a target for intracellular parasites). Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain, and bone marrow. Manifestations may include enlarged spleen and liver, liver malfunction, skeletal disorders or bone lesions that may be painful, severe neurological complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brown ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alkaptonuria
Alkaptonuria is a rare inherited genetic disease which is caused by a mutation in the ''HGD'' gene for the enzyme homogentisate 1,2-dioxygenase (); if a person inherits an abnormal copy from both parents (it is a recessive condition), the body accumulates an intermediate substance called homogentisic acid in the blood and tissues. Homogentisic acid and its oxidized form ''alkapton'' are excreted in the urine, giving it an unusually dark color. The accumulating homogentisic acid causes damage to cartilage ( ochronosis, leading to osteoarthritis) and heart valves, as well as precipitating as kidney stones and stones in other organs. Symptoms usually develop in people over 30 years old, although the dark discoloration of the urine is present from birth. Apart from treatment of the complications (such as pain relief and joint replacement for the cartilage damage), the drug nitisinone has been found to suppress homogentisic acid production, and research is ongoing as to whether it ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intervertebral Disk Calcification
Alkaptonuria is a rare inherited genetic disease which is caused by a mutation in the ''HGD'' gene for the enzyme homogentisate 1,2-dioxygenase (); if a person inherits an abnormal copy from both parents (it is a recessive condition), the body accumulates an intermediate substance called homogentisic acid in the blood and tissues. Homogentisic acid and its oxidized form ''alkapton'' are excreted in the urine, giving it an unusually dark color. The accumulating homogentisic acid causes damage to cartilage (ochronosis, leading to osteoarthritis) and heart valves, as well as precipitating as kidney stones and stones in other organs. Symptoms usually develop in people over 30 years old, although the dark discoloration of the urine is present from birth. Apart from treatment of the complications (such as pain relief and joint replacement for the cartilage damage), the drug nitisinone has been found to suppress homogentisic acid production, and research is ongoing as to whether it can ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Posterior Iliac Horns
Posterior may refer to: * Posterior (anatomy), the end of an organism opposite to its head ** Buttocks, as a euphemism * Posterior horn (other) * Posterior probability The posterior probability is a type of conditional probability that results from updating the prior probability with information summarized by the likelihood via an application of Bayes' rule. From an epistemological perspective, the posterior p ..., the conditional probability that is assigned when the relevant evidence is taken into account * Posterior tense, a relative future tense {{disambiguation ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Radial Head Subluxation
A pulled elbow, also known as a radial head subluxation, is when the ligament that wraps around the radial head slips off. Often a child will hold their arm against their body with the elbow slightly bent. They will not move the arm as this results in pain. Touching the arm, without moving the elbow, is usually not painful. A pulled elbow typically results from a sudden pull on an extended arm. This may occur when lifting or swinging a child by the arms. The underlying mechanism involves slippage of the annular ligament off of the head of the radius followed by the ligament getting stuck between the radius and humerus. Diagnosis is often based on symptoms. X-rays may be done to rule out other problems. Prevention is by avoiding potential causes. Treatment is by reduction. Moving the forearm into a palms down position with straightening at the elbow appears to be more effective than moving it into a palms up position followed by bending at the elbow. Following a successful r ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nail–patella Syndrome
Nail–patella syndrome is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips. The name "nail–patella" can be very misleading because the syndrome often affects many other areas of the body, including even the production of certain proteins.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . Those affected by NPS may have one or more affected areas of the body, and its severity varies depending on the individual. It is also referred to as iliac horn syndrome, hereditary onychoosteodysplasia (HOOD syndrome), Fong disease or Turner–Kieser syndrome.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. Page 786-7. . Diagnosis of NPS can be made at birth but is common for it to remain undiagnosed for several generations. While there is no ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Absent Patella
Absence may refer to: Employment * Leave of absence, a period of time away from a job * Absenteeism, the habitual pattern of absence from work or duty * Absence rate, the ratio of workers with absences to total employees Sciences and philosophy * The (local) nonexistence of something * Absence of evidence, a concept in informal logic * Absence seizure, one of several kinds of seizures Arts and entertainment Music * The Absence (band), an American death metal band from Tampa, Florida * ''Absence'' (Dälek album), 2004 * ''Absence'' (Paper Route album), 2009 * ''The Absence'' (Luna Mortis album), 2009 * ''The Absence'' (Melody Gardot album), 2012 * ''Absence'' (Snowman album), 2011 * ''Absence'' (Terence Blanchard album), 2021 Other media * ''Absence'' (film), a 2014 Brazilian film *The Absence (1976 film), a Canadian drama film * ''The Absence'' (1992 film), a French-German-Spanish drama film * ''Absence'' (audio drama), a Big Finish Productions audio drama *Absent (201 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
