The cause of the disease is unknown. It was originally thought that the epidermal changes were secondary to profound malnutrition as a result of protein-losing enteropathy. Recent findings have called this hypothesis into question; specifically, the hair and nail changes may not improve with improved nutrition. Other conditions consisting of multiple hamartomatous polyps of the digestive tract include Peutz–Jeghers syndrome, juvenile polyposis, and Cowden disease. Related polyposis conditions are familial adenomatous polyposis, attenuated familial adenomatous polyposis, Birt–Hogg–Dubé syndrome and MUTYH.
Cronkhite–Canada syndrome
Ardalan–Shoja–Kiuru syndrome
Zamzam–Sheriff–Phillips syndrome
Grinspan's syndrome
Worster-Drought syndrome
Hapnes Boman Skeie syndrome
Laugier–Hunziker syndrome
Cohen syndrome