The disorder has been reported in more than 100 families worldwide, though some sources cite up to 400 families, and it is inherited in an autosomal dominant pattern. It is considered to be under-diagnosed because of the variability in its expression. The pattern of mutations and spectrum of symptoms are heterogeneous between individuals. Less severe skin phenotypes are seen in women and people of both sexes who have a late onset of skin symptoms.
Birt–Hogg–Dubé syndrome
Johnson–McMillin syndrome
Fox–Fordyce disease
Cruveilhier–Baumgarten disease
Yemenite deaf-blind hypopigmentation syndrome
Beare–Stevenson cutis gyrata syndrome
Sézary disease
Ardalan–Shoja–Kiuru syndrome