A cancer genetic disorder characterized by freckle-like spots on the lips, mouth and fingers and polyps in the intestines. Patients are at increased risk for developing cancer of the esophagus, stomach, colon, rectum, breast, ovary, testis and pancreas.
The polyps may occur in any part of the gastrointestinal tract, but polyps in the jejunum (the middle portion of the small intestine) are a consistent feature of the disease. Intussusception (telescoping of the bowel) and intestinal bleeding are also common symptoms.
Females are at risk for sex cord tumors with annular tubules (SCTAT), a benign tumor of the ovary. Males may develop Sertoli cell tumors of the testes, which secrete estrogen and can lead to gynecomastia (male breast enlargement). Females can also have a malignancy of the cervix called adenoma malignum.
Peutz-Jeghers syndrome is inherited in an autosomal dominant manner and is due to mutation in a gene on chromosome 19p13.3 called STK11 (serine/threonine-protein kinase 11) that appears to function as a tumor suppressor gene. Half of patients have an affected parent from whom they inherited an STK11 mutation and the other half have a new mutation in the STK11 gene.
The risk of cancer in the Peutz-Jeghers syndrome is very high. Among 210 patients with the symdrome, the risk of developing noncutaneous cancer between the ages of 15 to 64 was 93%. The highest cumulative risks were for breast cancer (54%), colon cancer (39%), pancreatic cancer (36%), stomach cancer (29%), and ovarian cancer (21%).
In 1921 Peutz was the first to recognize the familial association of gastrointestinal polyps and spots. A review by Jeghers et al. in The New England Journal of Medicine in 1949 put the polyps-and-spots syndrome “on the map.”
- Peyronie disease
Trauma does not explain why most cases develop slowly and with no apparent traumatic event. It also does not explain why some cases disappear quickly, and why similar conditions such as Dupuytren contracture do not seem to result from severe trauma. Some researchers theorize that Peyronie’s disease may be an autoimmune disorder. A number of […]
- Pfeiffer syndrome
Pfeiffer syndrome type 1 — The intellect is usually normal. There is moderate to severe underdevelopment (hypoplasia) of the midface, broad and inwardly deviated thumbs and big toes with variable degree of shortening of the digits (brachydactyly). Hydrocephalus and hearing loss may also occur. Pfeiffer syndrome type 2 — Developmental delay and mental retardation are […]
- PGA (polyglandular autoimmune syndrome)
replacing the various hormones that are in short supply, giving insulin for the diabetes, treating the yeast infections, etc. However, there is no known cure for PGA. The prognosis (outlook) depends on whether the critical hormone deficiencies are remedied and especially whether the infections can be successfully controlled. PGA goes by a confusing array of […]
- pH meter
A simple and speedy device to measure the acidity and alkalinity of a fluid. A pH meter acts as a volt meter that measures the electrical potential difference between a pH electrode and a reference electrode and displays the result in terms of the pH value of the solution in which they are immersed. The […]
Doctor of Philosophy. (From the New Latin, philosophize doctor). Ph.D.’s are involved in clinical care (as in clinical psychology), biomedical research, health administration and other areas in medicine.