Peutz–Jeghers syndrome
| Peutz–Jeghers syndrome | |
|---|---|
| Manifestations of Peutz–Jeghers syndrome[1] | |
| Specialty | Medical genetics |
| Named after |
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Peutz–Jeghers syndrome (often abbreviated PJS) is an autosomal dominant genetic disorder characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa (melanosis).[2] This syndrome can be classed as one of various hereditary intestinal polyposis syndromes[3] and one of various hamartomatous polyposis syndromes.[4] It has an incidence of approximately 1 in 25,000 to 300,000 births.[5]
- ^ Klimkowski S, Ibrahim M, Ibarra Rovira JJ, Elshikh M, Javadi S, Klekers AR; et al. (2021). "Peutz-Jeghers Syndrome and the Role of Imaging: Pathophysiology, Diagnosis, and Associated Cancers". Cancers (Basel). 13 (20): 5121. doi:10.3390/cancers13205121. PMC 8533703. PMID 34680270.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 857. ISBN 0-7216-2921-0.
- ^ Dean, PA (1996), "Hereditary intestinal polyposis syndromes", Rev Gastroenterol Mex, 61 (2): 100–111, PMID 8927912.
- ^ Jelsig, AM; et al. (2014), "Hamartomatous polyposis syndromes: a review", Orphanet J Rare Dis, 9 (1): 101–111, doi:10.1186/1750-1172-9-101, PMC 4112971, PMID 25022750.
- ^ Bouquot, Jerry E.; Neville, Brad W.; Damm, Douglas D.; Allen, Carl P. (2008). Oral and Maxillofacial Pathology. Philadelphia: Saunders. p. 16.11. ISBN 978-1-4160-3435-3.