Shwachman–Diamond syndrome (SDS), or Shwachman–Bodian–Diamond syndrome, is a rare congenital disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities and short stature. After cystic fibrosis (CF), it is the second most common cause of exocrine pancreatic insufficiency in children. Signs and symptoms
The syndrome shows a wide range of abnormalities and symptoms. The main characteristics of the syndrome are exocrine pancreatic dysfunction, hematologic abnormalities and growth retardation. Only the first two of these are included in the clinical diagnostic criteria. Hematologic abnormalities: neutropenia may be intermittent or persistent and is the most common hematological finding. Low neutrophil counts leave patients at risk of developing severe recurrent infections that may be life-threatening. Anemia (low red blood cell counts) and thrombocytopenia (low platelet counts) may also occur. Bone marrow is typically hypocellular, with maturation arrest in the myeloid lineages that give rise to neutrophils, macrophages, platelets and red blood cells. Patients may also develop progressive marrow failure or transform to acute myelogenous leukemia. Exocrine pancreatic dysfunction: Pancreatic exocrine insufficiency arises due to a lack of acinar cells that produce digestive enzymes. These are extensively depleted and replaced by fat. A lack of pancreatic digestive enzymes leaves patients unable to digest and absorb fat. However, pancreatic status may improve with age in some patients. Growth retardation: More than 50% of patients are below the third percentile for height, and short stature appears to be unrelated to nutritional status.
The colorectal adenoma is a benign glandular tumor of the colon and the rectum. It is a precursor lesion of the colorectal adenocarcinoma (colon cancer). They often manifest as colorectal polyps. Comparison table
Tubular adenoma
In contrast to hyperplastic polyps, these display dysplasia. Tubulovillous adenoma
Tubulovillous adenoma, TVA are considered to have a higher risk of becoming malignant (cancerous) than tubular adenomas. Villous adenoma
These adenomas may become malignant (cancerous). Villous adenomas have been demonstrated to contain malignant portions in about 15–25% of cases, approaching 40% in those over 4 cm in diameter. Colonic resection may be required for large lesions. These can also lead to secretory diarrhea with large volume liquid stools with few formed elements. They are commonly described as secreting large amounts of mucus, resulting in hypokalaemia in patients. On endoscopy, a "cauliflower like mass is described due to villi stretching. Being an adenoma, the mass is covered in columnar epithelial cells. Sessile serrated adenoma
Sessile serrated adenomas are characterized by (1) basal dilation of the crypts, (2) basal crypt serration, (3) crypts that run horizontal to the basement membrane (horizontal crypts), and (4) crypt branching. The most common of these features is basal dilation of the crypts. See also
Colorectal cancer
Colorectal polyp


== References ==