Otolaryngology Book

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Peutz-Jeghers Syndrome

Aka: Peutz-Jeghers Syndrome, Hamartomatous Polyposis, Perioral Lentiginosis, Intestinal Polyposis Cutaneous Pigmentation Syndrome
  1. Epidemiology
    1. Prevalence: 1 in 50,000 to 200,000
    2. Autosomal Dominant inheritance
  2. Pathophysiology
    1. Mucocutaneous pigmentation
    2. Hamartomatous polyps in Gastrointestinal Tract
  3. Signs: Oral Lesions
    1. Prominent pigmented "freckling" of lips
    2. Pigmented spots also seen on:
      1. Buccal mucosa
      2. Face (esp. periorbital)
      3. Fingers
      4. Hands
  4. Associated Conditions
    1. Multiple Intestinal Polyps with Colorectal Cancer (and Gastric Cancer) risk
      1. Symptomatic polyps by age 10 to 30 years
    2. Intussusception
      1. Common complication by age 20 years
  5. Management: Gastrointestinal Cancer Screening
    1. Upper and lower endoscopy, video Capsule Endoscopy starting at age 8 years
      1. If no polyps on initial endoscopy
        1. Repeat upper and lower endoscopy every 3 year starting at age 18 years
      2. If polyps on initial endoscopy
        1. Perform upper and lower endoscopy every 3 years
    2. Polyp management
      1. Remove all polyps during endoscopy
      2. Colectomy if polyps cannot be managed by endoscopy
  6. Management: Other Cancer Screening
    1. Pancreatic Cancer screening
      1. MRCP or endoscopic Ultrasound every 1-2 years starting at age 30-35 years old
    2. Breast Cancer Screening (women)
      1. Mammogram and Breast MRI every year starting at age 25 years old
    3. Cervical Cancer Screening (women)
      1. Annual Pap Smear starting at age 18-20 years old
    4. Testicular Cancer screening (men)
      1. Annual testicular and scrotal exam starting at age 10 years old
  7. References
    1. Wilkins (2018) Am Fam Physician 97(2): 111-6 [PubMed]

Peutz-Jeghers Syndrome (C0031269)

Definition (MSHCZE) Vrozené autozomálně dominantně dědičné onemocnění (gen pro serin/threonin kinázu STK11) charakterizované intestinální polypózou spojenou s pigmentací rtů, obličeje či ústní sliznice. Pihy jsou různě veliké, skvrny mají barvu bílé kávy, vytvářejí se v průběhu dětství nebo jsou patrné již při narození. Polypy mohou být v celém zažívacím traktu, pravidelně a ve značném počtu jsou v tenkém střevě (mají sklon k malignizaci), mohou být příčinou ileu. Bývá druhotná anemie. Důležité je pravidelné onkologické sledování. (cit. Velký lékařský slovník online, 2012 http://lekarske.slovniky.cz/ )
Definition (NCI) An inherited condition characterized by generalized hamartomatous multiple polyposis of the intestinal tract. Transmitted in an autosomal dominant fashion, Peutz-Jeghers syndrome consistently involves the jejunum and is associated with melanin spots of the lips, buccal mucosa, and fingers. This syndrome is associated with abnormalities of chromosome 19. Also known as Jeghers-Peutz syndrome and Peutz's syndrome. --2004
Definition (NCI_NCI-GLOSS) A genetic disorder in which polyps form in the intestine and dark spots appear on the mouth and fingers. Having Peutz-Jeghers syndrome increases the risk of developing gastrointestinal and many other types of cancer.
Definition (MSH) A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.
Concepts Disease or Syndrome (T047)
MSH D010580
ICD10 Q85.8
SnomedCT 157029009, 54411001
English Peutz Jegher's Syndrome, Peutz Jeghers Syndrome, Peutz-Jegher Syndrome, Peutz-Jegher's Syndrome, Syndrome, Peutz-Jegher's, Syndrome, Peutz-Jeghers, Lentiginosis, Perioral, Lentiginoses, Perioral, Perioral Lentiginoses, Perioral Lentiginosis, POLYPS-AND-SPOTS SYNDROME, PEUTZ-JEGHERS SYNDROME, POLYPOSIS, HAMARTOMATOUS INTESTINAL, PJS, Peutz-Jeghers Syndrome, Peutz's Syndrome, Jeghers-Peutz Syndrome, Peutz-Jeghers syndrome (diagnosis), Peutz-Jeghers Syndrome [Disease/Finding], Syndromes, Periorificial Lentiginosis, Polyposis, Peutz-Jeghers, Syndrome, Periorificial Lentiginosis, Peutz Jeghers Polyposis, Periorificial Lentiginosis Syndromes, Peutz-Jeghers Polyposis, Periorificial Lentiginosis Syndrome, peutz-jegher's syndrome, peutz jegher syndrome, peutz-jegher syndrome, peutz-jeghers syndrome, syndrome peutz-jeghers, peutz jeghers syndrome, peutz jeghers syndromes, Peutz Jeghers syndrome, Hamartomatous Intestinal Polyposes, Hamartomatous Intestinal Polyposis, Intestinal Polyposes, Hamartomatous, Intestinal Polyposis, Hamartomatous, Polyposes, Hamartomatous Intestinal, Polyposis, Hamartomatous Intestinal, Polyps-and-Spots Syndromes, Polyps-and-Spots Syndrome, Syndrome, Polyps-and-Spots, Polyps and Spots Syndrome, Syndromes, Polyps-and-Spots, Periorificial lentiginosis syndrome, Peutz-Jeghers syndrome, Perioral lentiginosis, Peutz-Jeghers polyposis, PJS - Peutz-Jehgers syndrome, Peutz-Jeghers syndrome (disorder)
Japanese ポイツ・イェガース症候群, ﾎﾟｲﾂｲｪｶﾞｰｽｼｮｳｺｳｸﾞﾝ, Peutz-Jeghers症候群, ポイツ･イェガー症候群, ポイツ･ジェガース症候群, ポイツ･イェガース症候群, 口周囲のほくろ症, ほくろ症-口周囲, ポイツ-ジェガース症候群, 口周囲のほくろ症(コウシュウイノホクロショウ)
Swedish Peutz-Jeghers syndrom
Czech Peutzův-Jeghersův syndrom, Peutz-Jeghersův syndrom, Peutzova-Jeghersova polypóza, lentiginopolyposis digestiva, hamartomatózní polypóza
Finnish Peutz-Jeghersin oireyhtymä
Russian PEITTSA-EGERSA SINDROM, ПЕЙТЦА-ЕГЕРСА СИНДРОМ
Italian SPJ, Poliposi intestinale amartromatosa, PJS, Lentiginosi della mucosa buccale, Sindrome con polipi e macule, Sindrome di Peutz-Jeghers
Polish Zespół Peutza-Jeghersa
Hungarian Peutz-Jeghers-syndroma
Norwegian Peutz-Jeghers syndrom
Spanish síndrome de Peutz - Jeghers (trastorno), síndrome de Peutz - Jeghers, síndrome de lentiginosis periorificial, Lentiginosis Perioral, Síndrome de Peutz-Jeghers
Dutch syndroom van Peutz-Jeghers, Lentiginosis perioralis, Peutz-Jeghers-syndroom, Syndroom, Peutz-Jeghers-
French Syndrome de Peutz-Jeghers, Lentiginose périorificielle avec polypose viscérale, Syndrome de Peutz-Jeghers-Touraine, Polypose hamartomateuse intestinale, Polypose intestinale - pigmentation cutanée
German Lentigo, periorale, Peutz-Jeghers-Syndrom, Polyposis intestinalis II
Portuguese Lentiginose Perioral, Síndrome de Peutz-Jeghers
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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