Peutz-jeghers syndrome Q85.8

Author: Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 05.12.2021

Dieser Artikel auf Deutsch

Synonym(s)

Hutchinson-Weber-Peutz Syndrome; Intestinal polyposis with melanoplakia; Lentiginosis periorifiziale; Lentigopolypose; Melanoplakia with intestinal polyposis; Melanoplakia with intestinal polyps; OMIM 175200; Periorifizial lentiginosis; Peutz-Touraine-Jeghers Syndrome; Pigmentation polypose; Polyposis intestinalis et Ephelides inversae

History
This section has been translated automatically.

Hutchinson, 1896; Peutz, 1921; Jeghers, 1949

Definition
This section has been translated automatically.

Rare, autosomal dominantly inherited polytopic tumor syndrome with a monitory lentiginosis (leading clinical symptom) of the lips, nose and buccal mucosa as well as intestinal hamartous polyps and carcinomas which manifest themselves mainly in the small intestine. Association with other tumors of internal organs is possible (see below).

Note: Peutz-Jeghers syndrome belongs to the family of familial lentiginosis syndromes. This further includes the following syndromes:

From a gastroenterological point of view, the syndrome is counted among the Hamartous Polyposis Syndromes .

Occurrence/Epidemiology
This section has been translated automatically.

Worldwide occurrence among numerous ethnic groups, no gender preference. Incidence: 1/60.000-300.000 inhabitants.

Etiopathogenesis
This section has been translated automatically.

Autosomal-dominantly inherited mutations of the Peutz-Jegher syndrome gene(STK11/LKB1) mapped to gene locus 19p13.3, with consecutive disruption of serine-threonine protein kinase 11, which modulates cell proliferation.

Loss of heterozygosity (LOH) of the chromosomal region where the STK11 gene is located has been demonstrated in 70% of all hamartomatous polyps and adenocarcinomas of Peutz-Jeghers syndrome.

Manifestation
This section has been translated automatically.

Lentigines from birth or in early childhood; intestinal polyps 2nd-3rd decade of life (mean age of onset of the disease: 35 years)

Localization
This section has been translated automatically.

Especially perioral and periorbital areas, red lips, oral mucosa (cheek mucosa) and conjunctiva are affected.

Nails with brown longitudinal stripes

Polyposis mainly affects the small intestine, more rarely the stomach and large intestine.

Clinical features
This section has been translated automatically.

Intraoral lentiginosis: Bizarre, dark to black-brown, spatter-like hyperpigmentation (lentigines).

Less frequently, nail pigmentation (diffuse or longitudinal streaks).

Abdominal complaints due to small intestinal polyposis are to be expected in some patients (early adulthood).

Furthermore, there is an increased risk for a wide spectrum of malignancies:

  • Pancreatic carcinoma (C25.9) - the lifetime risk is about 40%.
  • bronchial carcinoma
  • endocrine tumors
  • neuroendocrine carcinomas
  • thyroid carcinoma
  • colon carcinoma
  • genital carcinomas: cervix, ovaries, testicles

Histology
This section has been translated automatically.

Pigmentary spots: Partly ephelidene like ( Ephelids), partly lentigines like ( Lentigo).

Differential diagnosis
This section has been translated automatically.

Therapy
This section has been translated automatically.

For cosmetic reasons, the lentigines can be covered with camouflage (e.g. Dermacolor, Unifiance). In case of severe cosmetic impairment, laser therapy of the pigment spots can be attempted.

Regular lifelong monitoring and, if necessary, treatment of the polyposis is important.

Clinical screening for non-intestinal tumours.

Progression/forecast
This section has been translated automatically.

Pigmentation spots of the skin are partially regressible.

Oral lentiginosis remains constant.

Malignant degeneration of the small intestinal hamartomas is rare.

Important is the high association (90% of patients) with other internal neoplasms.

Thus, endoscopic GI prevention is of great importance from the age of 20.

Literature
This section has been translated automatically.

  1. Blank A et al (1981) Pigmentary polyposis (Peutz-Jeghers syndrome). Dermatologist 32: 296-300
  2. Burgdorf WHC et al (1988) Autosomal dominant genodermatoses and their association with internal carcinomas. Dermatologist 39: 413-418
  3. Campos FG et al (2015) Colorectal cancer risk in hamartomatous polyposis syndromes. World J Gastrointest Surg 7:25-32
  4. Cowgill SM et al (2003) The genetics of pancreatic cancer. Am J Surg 186: 279-286
  5. Grady WM (2003) Genetic testing for high-risk colon cancer patients. Gastroenterology 124: 1574-1594
  6. Hutchinson J (1896) Pigmentation of lip and mouth. Arch Surg (London) 7: 290
  7. Jeghers H, McKusick VA, Katz KH (1949) Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits. New Eng J Med 241: 993-1005 u. 1031-1036
  8. Peutz JLA (1921) Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane. Nederl Monatschr Geneesk 10: 134-146
  9. Wilson DM et al (1986) Testicular tumors with Peutz-Jeghers syndrome. Cancer 57: 2238-2240
  10. Zhou Fet al (2014) Multiple genital tract tumors and mucinous adenocarcinoma of colon in a woman with Peutz-Jeghers syndrome: a case report and review of literatures. Int J Clin Exp Pathol 7:4448-4453

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

Authors

Last updated on: 05.12.2021