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Harold Jeghers was a well-known medical educator of the twentieth century who contributed to defining Peutz-Jeghers syndrome [1, 2].
Throughout the 1980s and early 1990s, Jeghers oversaw the continued accumulation of the collection, with articles from about seventy academic clinical journals.
The differential diagnosis of diffuse pigmention in the oral mucosa of a 4yr old child included racial (physiologic) pigmentation and Peutz jeghers syndrome.
The patient was scheduled for recall check up and has to be followed up medically if any signs of Peutz jeghers syndrome develop later in life.
(5) Highly penetrant genetic mutations in TP53 (Li-Fraumeni syndrome), PTEN (Cowden syndrome), CDH1 (Hereditary Diffuse Gastric Cancer syndrome), and STK11 (Peutz Jeghers syndrome) have long been recognized as possible causes of hereditary breast cancer, and now panel testing includes these along with moderately penetrant genes such as checkpoint kinase 2 (CHEK2), ATM serine/ thereonine kinase (ATM), and partner and localizer of BRCA2 (PALB2).
Peutz Jeghers Syndrome which produces intestinal polyposis and melanin pigmentation in the oral mucosa and lips.
Peutz Jeghers syndrome is not associated with protein-losing gastroenteropathy.
INTRODUCCION: El sindrome de Peutz Jeghers es un trastorno hereditario autosomico dominante que se caracteriza por la presencia de polipos hamartomatosos gastrointestinales y pigmentacion mucocutanea.
Brownish or opalescent baby teeth may be the first sign of osteogenesis imperfecta, while freckle-like spots on the lips may indicate intestinal polyposis, as in Peutz Jeghers syndrome.
The eponym Peutz Jeghers syndrome was originally put forward in 1954 by Bruwer et al.