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Review

Peutz‑Jeghers syndrome: Skin manifestations and endocrine anomalies (Review)

  • Authors:
    • Florica Sandru
    • Aida Petca
    • Mihai Cristian Dumitrascu
    • Razvan-Cosmin Petca
    • Mara Carsote
  • View Affiliations / Copyright

    Affiliations: Department of Dermatology, ‘Carol Davila’ University of Medicine and Pharmacy, 050474 Bucharest, Romania, Department of Obstetrics and Gynecology, ‘Carol Davila’ University of Medicine and Pharmacy, 050474 Bucharest, Romania, Department of Urology, ‘Carol Davila’ University of Medicine and Pharmacy, 050474 Bucharest, Romania, Department of Endocrinology, ‘Carol Davila’ University of Medicine and Pharmacy, 050474 Bucharest, Romania
  • Article Number: 1387
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    Published online on: September 29, 2021
       https://doi.org/10.3892/etm.2021.10823
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Abstract

Peutz‑Jeghers syndrome (PJS), a rare autosomal dominant serine/threonine kinase 11 (STK11)/ liver kinase B1 (LKB1) gene‑related genodermatosis, is characterized by oral hyperpigmentation (OHP); multiple gastro‑intestinal mucosal benign hamartomatous polyps causing local bleeding, occlusion, intussusception, post‑resection small bowel syndrome, associated increased risk of small intestinal cancer (incidence during the third decade); and 76% cumulative higher risk than the global population of developing non‑gastrointestinal tumors (female predominance) including ovarian/testicular neoplasia, pancreatic and gynecologic (breast, uterus, ovarian) cancers. Suggestive PJS‑associated OHP requires STK11 genetic testing. Abdominal pain in an OHP patient may be related to PJS‑associated polyps. Other features include focal depigmentation followed by hyperpigmentation, and xeroderma pigmentosum‑like lesions. The severity of the dermatological findings is correlated with gastrointestinal polyps. The STK11 gene is linked to reserve of primordial follicles, polycystic ovary syndrome, female fertility, and spermatogenesis. PJS is associated with 2 types of ovarian sex‑cord stroma tumors (SCSTs): annular tubules (SCTATs) and pure Sertoli cell tumors. SCSTs accounts for 8% of ovarian cancer and SCTATs represents 2% of SCST, which may be associated with the overproduction of progesterone. PJS‑SCTAT vs. non‑PJS‑SCTAT reveals bilateral/multifocal, small tumors with a benign behavior vs. a unique ovarian, large tumor with increased malignant/metastasis risk. Male precocious puberty is due to large cell calcifying Sertoli cell tumors (LCCSCTs). Notably, 30‑40% of LCCSCTs are caused by PJS or Carney complex. PJS‑LCCSCT is not aggressive, but it may be bilateral/multifocal, with the ultrasound hallmark being micro‑calcifications. Testicular, intra‑tubular large cell hyalinizing Sertoli cell tumor is the second testicle neoplasia in PJS. The skin and mucosal lesions are useful markers of PJS, assisting with the early identification of hamartomatouspolyps and initiation of serial surveillance of ovarian, or testicular neoplasia.
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Copy and paste a formatted citation
Spandidos Publications style
Sandru F, Petca A, Dumitrascu MC, Petca R and Carsote M: Peutz‑Jeghers syndrome: Skin manifestations and endocrine anomalies (Review). Exp Ther Med 22: 1387, 2021.
APA
Sandru, F., Petca, A., Dumitrascu, M.C., Petca, R., & Carsote, M. (2021). Peutz‑Jeghers syndrome: Skin manifestations and endocrine anomalies (Review). Experimental and Therapeutic Medicine, 22, 1387. https://doi.org/10.3892/etm.2021.10823
MLA
Sandru, F., Petca, A., Dumitrascu, M. C., Petca, R., Carsote, M."Peutz‑Jeghers syndrome: Skin manifestations and endocrine anomalies (Review)". Experimental and Therapeutic Medicine 22.6 (2021): 1387.
Chicago
Sandru, F., Petca, A., Dumitrascu, M. C., Petca, R., Carsote, M."Peutz‑Jeghers syndrome: Skin manifestations and endocrine anomalies (Review)". Experimental and Therapeutic Medicine 22, no. 6 (2021): 1387. https://doi.org/10.3892/etm.2021.10823
Copy and paste a formatted citation
x
Spandidos Publications style
Sandru F, Petca A, Dumitrascu MC, Petca R and Carsote M: Peutz‑Jeghers syndrome: Skin manifestations and endocrine anomalies (Review). Exp Ther Med 22: 1387, 2021.
APA
Sandru, F., Petca, A., Dumitrascu, M.C., Petca, R., & Carsote, M. (2021). Peutz‑Jeghers syndrome: Skin manifestations and endocrine anomalies (Review). Experimental and Therapeutic Medicine, 22, 1387. https://doi.org/10.3892/etm.2021.10823
MLA
Sandru, F., Petca, A., Dumitrascu, M. C., Petca, R., Carsote, M."Peutz‑Jeghers syndrome: Skin manifestations and endocrine anomalies (Review)". Experimental and Therapeutic Medicine 22.6 (2021): 1387.
Chicago
Sandru, F., Petca, A., Dumitrascu, M. C., Petca, R., Carsote, M."Peutz‑Jeghers syndrome: Skin manifestations and endocrine anomalies (Review)". Experimental and Therapeutic Medicine 22, no. 6 (2021): 1387. https://doi.org/10.3892/etm.2021.10823
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