Peutz Jeghers syndrome

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Status

Done

Parent item

Tumour syndrome

General

• Rare

Genetic features

• Autosomal Mutation of STK11 gene (oncogene) aka LKB1 gene

Diagnostic criteria

• At least 2 Peutz-Jeghers type hamartomatous polyps in the small intestine

• Characteristic freckling of the mouth, lips, fingers, or toes

• At least 1 relative diagnosed with PJS

Clinical manifestation

• Multiple hamartomatous Small intestine polyps → cancer

• Mucocutaneous hyperpigmentation

• Associated with Gangliogliomas