Darier's disease with esophageal involvement, a case report.

Abstract

Darier's disease (DD) is an autosomal dominant dermatosis caused by mutation of ATP2A2 gene at 12q23-24, characterized histologically by acantholysis and dyskeratosis¹. It's a rare disease, distinguish by the presence of red-brown keratotic papules of follicular, palm-plantar, nail and less often in oral mucosa².

We report a case of a 70-year-old woman with medical history of neuropsychiatric disorders, chronic kidney disease (CKD), anemia of CKD, diabetes mellitus 2, hypertensive heart disease. At admission she presented widespread hyperkeratotic skin lesions and erythronychia.  A skin biopsy confirmed the diagnosis of DD. An upper gastrointestinal endoscopy revealed extensive esophagitis histologically in favor of association with DD.

Some extracutaneous manifestations have been described, the majority were neuropsychiatric disorders, with only a few cases described of esophageal mucous membranes affection. It appears to be due to the pleiotropic effect that has mutations in ATP2A2 in other cells^3,4.