A case of segmental Darier disease treated with doxycycline monotherapy

Pettit, Cory; Ulman, Catherine A.; Spohn, Gina P; Kaffenberger, Jessica

doi:10.5070/d3243038615

Cited by 12 publications

(11 citation statements)

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“…Although antibiotics are commonly used by patients with DD to treat superimposed cutaneous infections, we identified multiple case reports which investigated the use of doxycycline for the clearance of DD (Grade C). 53 , 54 Doxycycline belongs to the class of tetracyclines which can suppress inflammation, epidermal proliferation, collagenase activity and infectious exacerbations, all of which are mechanisms of DD. 55 In the two patients treated with doxycycline, there was significant clinical improvement to complete remission of DD, which persisted for 3 months with maintenance therapy at the time of the report.…”

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

“…55 In the two patients treated with doxycycline, there was significant clinical improvement to complete remission of DD, which persisted for 3 months with maintenance therapy at the time of the report. 53,54 Oral Contraceptives. There have been multiple reports of exacerbations of DD associated with menstruation or pregnancy.…”

Section: Vitamin a Analogs A Variety Of Other Systemic Vitaminmentioning

confidence: 99%

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

et al. 2021

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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.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Vitamin a Analogs A Variety Of Other Systemic Vitaminmentioning

confidence: 99%

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

et al. 2021

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“…receptor expression leading to decreased inflammation. Miglustat α-Glucosidase Restore localization of adhesion junctions and desmosomes Savignac et al 59 Calcium chelation Enhanced release of calcium from ER Kellermayer et al 61 Readthrough of premature stop codons Restoration of functional ATP2A2 gene products Pettit et al 60 is a pharmacologic chaperone molecule of interest that may restore adhesion junctions and desmosomes yielding increased keratinocyte adhesion strength. 59 Mechanistically, miglustat inhibits α-glucosidase which blocks deglycosylation of ER proteins and thus prevents their interaction with calnexin that would normally activate the degradation pathway.…”

Section: Strategic Treatment Options For Darier Diseasementioning

confidence: 99%

“…Several antibiotics may have therapeutic potential. Doxycycline has chelation properties and is hypothesized to affect the release of calcium from the endoplasmic reticulum 60 . Importantly, it achieves therapeutic concentrations in most tissues throughout the body and readily crosses the blood‐brain barrier.…”

Section: Reviewmentioning

confidence: 99%

Impaired calcium signalling and neuropsychiatric disorders in Darier disease: An exploratory review

Ambur

Zaidi²,

Dunn

et al. 2022

Experimental Dermatology

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Darier (Darier‐White) disease (DD) is an autosomal dominant skin disorder caused by pathogenic mutations in the ATP2A2 gene which encodes a calcium ATPase in the sarco‐endoplasmic reticulum (SERCA2). Defects in the SERCA2 protein lead to an impairment of cellular calcium homeostasis, which in turn, triggers cell death pathways. There is a high prevalence of neuropsychiatric disorders in patients affected by this condition, namely intellectual disability, bipolar disorder, schizophrenia, and suicidality. Though these associations have been well‐documented over the years, little has been discussed or investigated regarding the pathophysiological mechanisms. The goal of this article is to review the literature related to the most commonly associated neuropsychiatric disorders found in patients with DD, highlight the pathophysiological mechanisms underlying each condition, and examine potential interventions that may be of interest for future development. A literature search was performed using PubMed to access and review relevant articles published in the last 40 years. Keywords searched included Darier disease neuropsychiatric, Darier disease pathophysiology, SERCA2 central nervous system, SERCA 2 skin, ATP2A2 central nervous system, ATP2A2 skin, sphingosine‐1‐phosphate signalling skin, sphingosine‐1‐phosphate signalling central nervous system, P2X7 receptor skin, and P2X7 receptor central nervous system. Our search resulted in 2692 articles, of which 61 articles were ultimately included in this review.

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A case of segmental Darier disease treated with doxycycline monotherapy

Cited by 12 publications

References 0 publications

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

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

Impaired calcium signalling and neuropsychiatric disorders in Darier disease: An exploratory review

Isotretinoin

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