Genetic Screening of Dowling-Degos Disease / Galli-Galli Disease

posted Aug 8, 2016, 10:16 PM by Vinod Scaria   [ updated Aug 8, 2016, 10:18 PM ]

Dowling-Degos disease is a pigmentary disorder of the skin characterized by reticular hyperpigmentation with generally a flexural distribution. Acantholysis is seen in some cases, and is generally classified as Galli-galli disease, though the general consensus is that Dowling-Degos and Galli-Galli disease are the spectrum of the same disease. The disease is extremely rare with only a handful of cases reported in literature and the population frequency is unknown. Several cases of the disease has been described previously from India and around the world.

Test description
Screening of (KRT5):c.10C>T mutation using capillary sequencing.