Darier’s Disease: A Commonly Misdiagnosed Cutaneous Disorder
April 2008 | Volume 7 | Issue 4 | Case Reports | 387 | Copyright © April 2008
Gina R. Chacon MD, David J. Wolfson MD, Carlos Palacio MD, Animesh A. Sinha MD PhD
Abstract
Darier’s disease is a rare disorder of keratinization of the epidermis, nails, and mucous membranes. Patients usually present
with pruritus and pain along with multiple small, red-brown papules on the seborrheic areas. Other cutaneous signs
include punctate keratotic pits of the palms and soles and dystrophy of the nails. Darier’s disease is the result of a mutation
in the ATP2A2 gene. A case which was difficult to diagnose because its presentation resembled more commonly seen
skin conditions is reported. The patient was misdiagnosed with acne, eczema, and seborrheic dermatitis, and was treated
without improvements. This case highlights the fact that skin disorders that do not respond to conventional therapy should
lead physicians to suspect an uncommon or even serious cutaneous disorder. The diagnosis of Darier’s disease, based on
family history, clinical appearance, and histopathology, expedited the appropriate treatment.