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Peutz-Jeghers syndrome differential diagnosis
Introduction
Overview
Overview
Peutz-Jeghers syndrome must be differentiated from other diseases that cause hamartomatous polyps and mucocutaneous pigmentation, such as Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome, juvenile polyposis, and McCune-Albright syndrome.
Differentiating Peutz-Jeghers Syndrome from other Diseases
Differentiating Peutz-Jeghers Syndrome from other Diseases
Peutz-Jeghers syndrome must be differentiated from the following diseases:[1][2]
- Cowden syndrome
- Cronkhite-Canada syndrome
- Bannayan–Riley–Ruvalcaba syndrome
- Juvenile polyposis
- McCune-Albright syndrome
Differential diagnosis according to polys:
| Diseases | History and Symptoms | Physical Examination | Laboratory Findings | Other Findings | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Abdominal Pain | Rectal Bleeding | Hyperpigmentation | Fatigue | Abdominal Tenderness | Hyperpigmentation | Anemia | Gene(s) | Sertoli Cell Tumors | Gastrointestinal Tumors | Cancers | ||
| Juvenile Polyposis Syndrome | + | – | + | – | – | – | SMAD4 | – | Adenoma+Â
Hamartoma+++ |
Colon | ||
| Cowden Syndrome | – | – | Axillary+ | – | – | Axillary+ | – | PTEN | – | Adenoma+Â
Hamartoma+++ |
Breast, Thyroid, Endometrium | Trichilemmoma, skin hamartoma, hyperplastic polyps, macrocephaly, breast fibrosis |
| Carney Syndrome | – | – | Facial+ | – | – | Facial+ | – | PRKAR1A | ++ | Thyroid | Myxomas of skin and heart | |
| Familial Adenomatous Polyposis | + | + | – | + | +/- | – | + | APC | – | Adenoma+++ | Colon, brain | Desmoid tumors, osteomas |
| Hereditary Non-Polyposis Colon Cancer | – | + | – | + | +/- | – | + | MLH1 | – | Adenoma+ | Endometrial, gastric, renal pelvis, ureter, and ovarian | Sebaceous adenoma |
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References
References
- ↑ Buck, J L; Harned, R K; Lichtenstein, J E; Sobin, L H (1992). “Peutz-Jeghers syndrome”. RadioGraphics. 12 (2): 365–378. doi:10.1148/radiographics.12.2.1561426. ISSN 0271-5333.
- ↑ “Peutz-Jeghers Syndrome – GeneReviews® – NCBI Bookshelf”.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Hamid Qazi, MD, BSc [2]