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Debilitating Darier's Disease and Its Impact on the Quality of Life.
Curēus 2020 May 16
Darier's disease (DD) is a rare, autosomal dominant genodermatosis that occurs due to mutations in the ATP2A2 gene on chromosome 12q23-24 that codes for sarco/endoplasmic reticulum calcium ATPase (SERCA), causing desmosomal breakdown and acantholysis. The disease usually persists for life and is characterized by a relapsing-remitting course. It can be challenging to treat and can cause several complications that may result in frequent hospitalizations. Sepsis, with the damaged skin as the portal of entry, and widespread herpes can occur. Studies have shown genetic links and associations between DD and psychiatric conditions like recurrent depression and bipolar disorder. We report the case of a 70-year-old male with a severe form of the condition and highlight his clinical course. We describe the severe nature of his disease that resulted in multiple complications like recurrent bacterial skin infections, significantly impairing his quality of life and leading to his ultimate demise.
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