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Adult-onset Still's disease (AOSD) is a rare systemic inflammatory disease characterized by the classic triad of persistent high spiking fevers, joint pain, and a distinctive salmon-colored bumpy rash. The disease is considered a diagnosis of exclusion.
Reactive arthritis is a painful form of inflammatory arthritis (joint disease due to inflammation). It occurs in reaction to an infection by certain bacteria. Most often, these bacteria are in the genitals (Chlamydia trachomatis) or the bowel (Campylobacter, Salmonella, Shigella and Yersinia). Chlamydia most often transmits by sex. It often has no symptoms, but can cause a pus-like or watery discharge from the genitals. The bowel bacteria can cause diarrhea. If you develop arthritis within one month of diarrhea or a genital infection – especially with a discharge – see a health care provider. You may have reactive arthritis. - See more at: https://www.rheumatology.org/i-am-a/patient-caregiver/diseases-conditions/reactive-arthritis#sthash.PukaaQhj.dpuf
Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. Individuals with trisomy 18 often have slow growth before birth (intrauterine growth retardation) and a low birth weight. Affected individuals may have heart defects and abnormalities of other organs that develop before birth. Other features of trisomy 18 include a small, abnormally shaped head; a small jaw and mouth; and clenched fists with overlapping fingers. Due to the presence of several life-threatening medical problems, many individuals with trisomy 18 die before birth or within their first month. Five to 10 percent of children with this condition live past their first year, and these children often have severe intellectual disability.
Rheum is made up of mucus, skin cells, oils and dust. The rheum that comes from the eyes and forms eye boogers is called gound, which you may know as eye sand, eye gunk, sleep dust, sleep sand, sleep in your eyes, or eye shnooters. When you're awake, gound doesn't cause any problems.
Hemophagocytic lymphohistiocytosis is a rare but life threatening condition characterised by activation of macrophages which result in phagocytosis of RBCs and cytokine mediated tissue damage. This presentation aims to discuss the genetic basis, clinical features, diagnostic criteria and management options in this serious condition. The management options in HLH include Etoposide, Dexamethasone, Cyclosorine, Tacrolimus, Alemtuzumab and stem cell transplant.
Multicystic dysplastic kidney (MCDK) is a condition that results from the malformation of the kidney during fetal development. The kidney consists of irregular cysts of varying sizes. Multicystic dysplastic kidney is a common type of renal cystic disease, and it is a cause of an abdominal mass in infants.
Pain in the affected bone is the most common complaint of patients with bone cancer. At first, the pain is not constant. It may be worse at night or when the bone is used (for example, leg pain when walking). As the cancer grows, the pain will be there all the time. The pain increases with activity and the person might limp if a leg is involved.
Acute intermittent porphyria (AIP) is a rare autosomal dominant metabolic disorder affecting the production of heme, the oxygen-binding prosthetic group of hemoglobin. It is characterized by a deficiency of the enzyme porphobilinogen deaminase.
The differential diagnosis for this child's painless hematochezia includes Meckel's diverticulum as well as vascular malformations. Meckel's diverticulum results from a failure of the vitelline duct to obliterate during the first 8 weeks of gestation, leaving behind a blind pouch often containing ectopic gastric tissue. Meckel's diverticulum classically affects children age ~:2 but can also occur in older children or even adults. Young children are more likely to experience painless bleeding due to mucosal irritation from gastric acid; adolescents and adults are more likely to have signs of obstruction. A technetium-99 nuclear scan will identify the diverticulum, which is usually located in the right lower quadrant of the abdomen within 2 feet of the ileocecal valve. Technetium-99 concentrates in the parietal cells of the diverticulum and stomach. The scan is also known as "Meckel's scan" due to its high specificity. A symptomatic Meckel's diverticulum is generally treated with surgical resection.
Porcelain gallbladder is a condition characterized by calcium salt deposits in the wall of a chronically inflamed gallbladder. The calcifications can be thin or faintly visible, or may be amorphous, patchy, and thick. The gallbladder is generally large, but its size can vary considerably. Most porcelain gallbladders are associated with gallstones. A plain radiograph generally detects these, but computed tomography (CT) has a higher specificity; therefore, a CT scan is performed to confirm the diagnosis. Due to their high risk of gallbladder carcinoma, all patients with porcelain gallbladder should have an elective cholecystectomy.