Peutz-Jeghers syndrome is an autosomal dominant syndrome associated with hyperpigmented macules on the mouth, lips, hands, and genetalia as well as increased risk of breast and GI cancers. [FA2020 p387]
This patient presents with the characteristic hyperpigmented macules as well as positive occult blood test which could be indicative of an underlying GI malignancy. Peutz-Jeghers is also associated with numerous hamartomas throughout the GI tract which could be associated with the patient's general GI symptoms due to their ability to cause blockage.
Other answers:
Cowden disease - multiple hamartoma syndrome that increases risk of breast, thyroid, uterine, and other cancers; it is not associated with the hyperpigmented macules
Muir-Torre syndrome - rare hereditary autosomal dominant cancer syndrome thought to be a subtype of HNPCC (Lynch syndrome)
Neurofibromatosis - not associated with GI issues and typically have a very different presentation (FA2020 p525) - NF1 = cafe-au-lait spots, lisch nodules, pheochromocytoma, seizures, cutaneous neurofibromas, etc.; NF2 = bilateral vestibular schwannomas, juvenille cateracts, meningiomas, ependymomas
submitted by โcassdawg(1781)
Peutz-Jeghers syndrome is an autosomal dominant syndrome associated with hyperpigmented macules on the mouth, lips, hands, and genetalia as well as increased risk of breast and GI cancers. [FA2020 p387]
This patient presents with the characteristic hyperpigmented macules as well as positive occult blood test which could be indicative of an underlying GI malignancy. Peutz-Jeghers is also associated with numerous hamartomas throughout the GI tract which could be associated with the patient's general GI symptoms due to their ability to cause blockage.
Other answers: