Therapeutic Options for the Treatment of Darier’s Disease: A Comprehensive Review of the Literature

Nardin Hanna,Megan Lam,Charles W Lynde,Patrick Fleming

doi:10.1177/12034754211058405

Abstract

Darier’s disease (also known as keratosis follicularis or dyskeratosis follicularis) is an autosomal dominant inherited disorder which manifests as hyperkeratotic greasy papules in the first or second decade of life. Aside from symptom management and behavioral modifications to avoid triggers, there are currently no validated treatments for Darier’s disease (DD). However, a variety of treatments have been proposed in the literature including retinoids, steroids, vitamin D analogs, photodynamic therapy, and surgical excision. The purpose of this review article is to identify therapeutic options for treating DD and to outline the evidence underlying these interventions. A search was conducted in Medline for English language articles from inception to July 4, 2020. Our search identified a total of 474 nonduplicate studies, which were screened by title and abstract. Of these, 155 full text articles were screened against inclusion/exclusion criteria, and 113 studies were included in our review. We identified Grade B evidence for the following treatments of DD: oral acitretin, oral isotretinoin, systemic Vitamin A, topical tretinoin, topical isotretinoin, topical adapalene gel, topical 5-flououracil, topical calciptriol and tacalcitol (with sunscreen), grenz ray radiation, and x-ray radiation. All other evidence for treatments of DD consisted of case reports or case series, which is considered grade C evidence. Considering the quality and quantity of evidence, clinicians may consider initiating a trial of select topical or oral retinoids first in patients with localized or generalized DD, respectively.

Highlights

Darier’s disease is an autosomal dominant inherited disorder with variable expressivity.[1,2] It occurs through mutations in the ATP2A2 gene, which encodes the sarcoplasmic reticulum ATPase type two (SERCA2) calcium pump.[1]This mutation manifests as hyperkeratotic greasy papules in the first or second decade of life.[1]
Therapies used for the treatment of Darier’s disease (DD) can be subdivided into four categories: oral retinoids, other oral therapies, topical, and procedural (Supplemental Tables 3-6 )
Combination therapies reported in the literature for the treatment of DD are listed in Supplemental Table 3

Summary

Introduction

Darier’s disease ( known as keratosis follicularis or dyskeratosis follicularis) is an autosomal dominant inherited disorder with variable expressivity.[1,2] It occurs through mutations in the ATP2A2 gene, which encodes the sarcoplasmic reticulum ATPase type two (SERCA2) calcium pump.[1]This mutation manifests as hyperkeratotic greasy papules in the first or second decade of life.[1]. The prevalence of DD is estimated to be between one in 30 000, and one in 100, 000.1

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Conclusion