A group of genetic diseases characterized by a deficiency of pigment in the skin and eye, a bleeding tendency resulting from a platelet storage pool deficiency, and systemic disorders related to deficient function of lysosomes. Abbreviated HPS. Albinism that occurs in the eyes results in significant reduction in visual acuity. Pulmonary fibrosis and granulomatous colitis are known complications. The diseases are inherited as an autosomal recessive trait and are due to multiple different gene mutations. Diagnosis is made by examining blood platelets under an electron microscope or by genetic testing. There is currently no treatment for HPS. Also known as albinism with hemorrhagic diathesis, pigmented reticuloendithelial cells, and delta-storage pool disease.
A general term referring to a protrusion of a tissue through the wall of the cavity in which it is normally contained. Also known as rupture.
- Hernia repair
Also called a herniorrhaphy, a surgical repair of a hernia. Hernia repair may be done under local or general anesthesia using a conventional incision or a laparoscope. The alternative term “herniorrhaphy” comes from hernio-, referring to a hernia + the Greek rhaphe, a seam = putting a seam (or suture) in a hernia.
- Hernia, diaphragmatic
Passage of a loop of bowel through the diaphragm muscle. This type of hernia occurs as the bowel from the abdomen “herniates” upward through the diaphragm into the chest (thoracic) cavity. Diaphragmatic hernias may be congenital or acquired. Congenital diaphragmatic hernias are present at birth. They occur because of abnormal development of the embryo. Acquired […]
- Hernia, hiatus
Protrusion of the stomach up into the opening normally occupied by the esophagus in the diaphragm, the great dome of muscle that separates the thoracic (chest) cavity from the abdomen. Normally, the esophagus passes down through the chest, crosses the diaphragm, enters the abdomen through a hole in the diaphragm called the esophageal hiatus and […]
- Hernia, Velpeau
A protrusion of tissue in front of the femoral blood vessels in the groin. Treatment is via ‘surgery.