Darier’s Disease: A Commonly Misdiagnosed Cutaneous Disorder

April 2008 | Volume 7 | Issue 4 | Case Report | 387 | Copyright © 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.

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