Abstract
Clinical signs and features include:
Mucocutaneous hyperpigmented macules that develop in early childhood
Melanocytic pigmented macules 1–5 mm in size (“freckles”) on vermillion border of lips buccal mucosa, labial mucosa, palate, tongue, distal fingers, toes, nostrils, perianal area, dorsal and volar hands and feet
Some will diminish with age but those around mouth in particular will persist
Other significant clinical finding is numerous small intestine hamartomatous polyps
Extent of cutaneous lesions is not associated with the extent of polyps
Pathogenesis of this disease involves:
Autosomal dominant mutation in the STK11 gene at chromosome 19p13.3
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References
Higham P, Alawi F, Stoopler ET. Medical management update: Peutz-Jeghers syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2010;109:5–11.
Begs AD, Latchford AR, Vasen HFA, et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut. 2010;59:975–86.
Ward SK, Roenigk HH, Gordon KB. Dermatological manifestations of gastroenterological disorders. Gastroenterol Clin N Am. 1998;27:626–7.
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Zakko, L., Finch, J., Rothe, M.J., Grant-Kels, J.M. (2013). Peutz–Jeghers Syndrome: Dermatological Features. In: Wu, G., Selsky, N., Grant-Kels, J. (eds) Atlas of Dermatological Manifestations of Gastrointestinal Disease. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6191-3_36
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DOI: https://doi.org/10.1007/978-1-4614-6191-3_36
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