Peutz-Jeghers Syndrome

Typical pattern of pigmentation representative of Peutz-Jeghers syndrome

Peutz-Jeghers syndrome is a rare genetic disease associated with germline mutations in the STK11/LKB1 tumor suppressor gene. This autosomal-dominant disorder is characterized by intestinal polyposis and increased susceptibility to an array of different cancer types. A highly distinctive pattern of labial, perioral, and acral macular pigmentation represents one of the earliest clinical manifestations of this disease. The macular pigmentation usually mimics dark freckling but without the reliance of sun exposure to increase or diminish color intensity. Pigmentation may also occur inside the mouth, but this is not common. The lip and perioral pigmentation are highly distinctive, although not pathognomonic for this disease.

Peutz-Jeghers disease should be given strong consideration as a potential diagnosis in a young child or adolescent who presents with diffuse labial and perioral pigmentation. An appropriate family history may increase the index of suspicion. A complaint of rectal bleeding may warrant referral to a gastroenterologist for evaluation. Therapy in these patients is directed at alleviating the gastrointestinal complications and cancer surveillance. The pigmentation persists throughout these patients’ lives and does not resolve without therapeutic intervention. Laser therapy may be beneficial to diminish the esthetic concerns.

引用自:Ison J, Clark A. Pigmented Lesions of the Oral Cavity[J]. Oral and Maxillofacial Surgery Clinics, 2023, 35(2): 153-158.

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