<unk>  is typically diagnosed by its clinical dermatological manifestations, particularly the beaded papules on the eyelids. Doctors can also test the hyaline material with a periodic acid-Schiff (PAS) staining, as the material colors strongly for this stain. Immunohistochemical skin labeling for antibodies for the ECM1 protein as labeling has been shown to be reduced in the skin of those affected by<unk> . Staining with anti-type IV collagen antibodies or anti-type VII collagen antibodies reveals bright, thick bands at the dermoepidermal junction. Non-contrast CT scans can image calcifications, but this is not typically used as a means of diagnosing the disease. This is partly due to the fact that not all<unk><unk>  patients exhibit calcifications, but also because similar lesions can be formed from other diseases such as herpes simplex and encephalitis. The discovery of mutations within the ECM1 gene has allowed the use of genetic testing to confirm initial clinical diagnoses of<unk> . It also allows doctors to better distinguish between<unk>  and other similar diseases not caused by mutations in ECM1.
Urbach–Wiethe disease
Brill–Zinsser disease
Koolen–De Vries syndrome
Camurati–Engelmann disease
DeSanto-Shinawi syndrome
Fox–Fordyce disease
Barakat-Perenthaler syndrome
Pelger–Huët anomaly