Chronic abdominal pain and diarrhea
Pigmented macules on the patient’s oral mucosa provided an important clue to the diagnosis.
Cronkhite-Canada syndrome consists of acral and oral pigmented macules and GI polyps as well as generalized darkening of the skin, extensive alopecia, loss of taste, and nail dystrophy.
Familial lentiginosis syndromes such as Noonan syndrome and NAME syndrome (nevi, atrial myxoma, myxoid neurofibroma, ephelides) have other systemic signs such as cardiac abnormalities, and the pigmentation is not as clearly perioral.
Albright syndrome manifests with oral pigmented macules but also is associated with precocious puberty and polyostotic fibrous dysplasia.
Addison disease may cause multiple hyperpigmented macules but has other systemic involvement; adrenocorticotropic hormone levels are elevated.
Juvenile polyposis syndrome manifests with GI polyps but is not associated with mucosal pigmentation.
Continue to: Use these 4 criteria to make the diagnosis
