Recurrent presumed herpes simplex keratitis and episcleritis in keratosis follicularis (Darier's disease)

Radia, Meera; Gilhooley, Michael James; Panos, Chris; Claoué, Charles

doi:10.1136/bcr-2015-210772

Cited by 9 publications

(7 citation statements)

References 12 publications

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“…Additionally, a number of ocular features have been previously described in DD patients [30, 31, 32, 33]. We report a case of herpes virus simplex (HSV) infection in the cornea of the left eye of patient I.2 and alert for the relationship between possible impaired adhesion molecules in the corneal epithelium and the increased risk of HSV infection.…”

Section: Discussionmentioning

confidence: 92%

Darier disease: first molecular study of a Portuguese family

Almeida

Lobo

Moura³

et al. 2019

Heliyon

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BackgroundDarier disease (DD) is a rare autosomal dominant condition characterized by skin lesions. Additionally, a wide range of neuropsychiatric symptoms is frequently reported in DD patients. This genodermatosis relies on mutations in the ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 (ATP2A2) gene, which encodes an ATPase responsible for pumping Ca2+ from the cytosol to the lumen of the ER.ObjectiveHerein we studied the molecular aspect of a two-generation Portuguese family with DD history with clinical variability.MethodsAll exons and intron-exon borders of genomic ATP2A2, as well as coding ATP2A2, were sequenced. Relative levels of SERCA2 mRNA and protein were quantified by qPCR and western blotting, respectively.ResultsThe c.1287+1G > T variant was identified in all affected individuals, whereas the unaffected individual was shown to carry the wild-type ATP2A2 sequence in both alleles. This variant leads to the skipping of full exon 10, which consequently generates a frameshift originating a premature STOP codon in exon 11 (p.V395 = fs*19). Although the mutant mRNA seems to partially escape degradation, results suggest synthesis inhibition or immediate degradation of the mutant protein. Neuropsychiatric and other occurrences affecting certain patients are also reported.ConclusionThis is the first study of DD in Portugal, the variant identified, previously described in a single Japanese patient, may be considered a pathogenic mutation, and haploinsufficiency the mechanism underlying DD pathology in these patients. This study also highlights the co-occurrence of neuropsychiatric features in DD.

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Section: Discussionmentioning

confidence: 92%

Darier disease: first molecular study of a Portuguese family

Almeida

Lobo

Moura³

et al. 2019

Heliyon

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“…Ocular symptoms occur rarely and cover spot damage of epithelium of the cornea with photophobia, corneal ulceration, conjunctival keratinisation, and an increased tendency towards recurring herpetiform corneitis. Singular cases of cataracts and retinal ablation were described [10,11].…”

Section: Discussionmentioning

confidence: 99%

“…Objawy oczne występują rzadko i obejmują punktowe uszkodzenia nabłonka rogówki przebiegające ze światłowstrętem, owrzodzenia rogówki, rogowacenie spojówki, a także zwiększoną skłonność do nawracających opryszczkowatych zapaleń rogówki. Opisano pojedyncze przypadki wystąpienia zaćmy i odwarstwienia siatkówki [10,11].…”

Section: Discussionunclassified

Severe Darier’s disease in a 39-year-old patient

Kozłowska¹,

Reduta²,

Bacharewicz-Szczerbicka³

et al. 2018

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Introduction. Darier's disease is a rare genodermatosis inherited in an autosomal dominant manner. Clinically, it manifests with hyperkeratotic papules in seborrhoeic and intertriginous areas as well as involvement of nail plates and mucous membranes. Patients may present with neuropsychiatric comorbidities. Objective. To present a case of a patient with severe Darier's disease that was successfully treated with acitretin. Case report. A 39-year-old man with a 24 year history of Darier's disease was admitted to the hospital because of an exacerbation of skin lesions. A year earlier he underwent an episode of severe depression. Because of signficant severity of skin lecions, acitretin was introduced with improvement. Conclusions. Oral retinoids are the first line treatment against severe exacerbations of Darier's disease. Because of possible development of neuropsychiatric disorders, patients with Darier's disease should receive psychological and/or psychiatric consultations. streszczenie Wprowadzenie. Choroba Dariera jest rzadką genodermatozą dziedziczoną autosomalnie dominująco. Klinicznie objawia się występowaniem hiperkeratotycznych grudek w obrębie okolic łojotokowych i wyprzeniowych oraz zajęciem płytek paznokciowych i błon śluzowych. U chorych mogą występować zaburzenia neuropsychiatryczne. Cel pracy. Przedstawienie przypadku pacjenta z chorobą Dariera o ciężkim przebiegu skutecznie leczonego acytretyną. Opis przypadku. Trzydziestodziewięcioletni pacjent z wywiadem choroby Dariera od 15. roku życia został przyjęty do Kliniki z powodu zaostrzenia zmian skórnych. Przed rokiem przebył epizod ciężkiej depresji. Ze względu na bardzo duże zaawansowanie schorzenia do terapii włączono acytretynę z dobrym efektem. Wnioski. Retinoidy doustne stanowią leczenie pierwszego wyboru ciężkich zaostrzeń choroby Dariera. Ze względu na możliwy rozwój zaburzeń neuropsychiatrycznych pacjenci z chorobą Dariera powinni być objęci stałą opieką psychologiczną i/lub psychiatryczną.

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“…They can present as punctuate corneal epithelial defects (photophobia), asymptomatic opacities in periphery of cornea,[ 4 5 ] bilateral corneal subepithelial infiltrations, corneal ulcerations, or conjunctival keratosis. [ 1 ] Patients with Darier's are also prone to recurrent herpes keratitis[ 6 ] and episcleritis. There have been rare reports of other abnormalities including cataract, basal cell carcinoma,[ 7 ] retinal detachment, and in some patients, typical retinitis pigmentosa[ 8 ] and even horn-like growths[ 9 ] along the lid margin.…”

Section: Discussionmentioning

confidence: 99%

Rare ocular manifestations in keratosis follicularis (Darier–White disease)

Kanakpur

Caculo

2017

Indian J Ophthalmol

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Keratosis follicularis (Darier's disease) is a rare (1 in 30,000–100,000) genetic autosomal-dominant predominantly dermatological disorder characterized by hyperkeratosis and acantholysis due to a defective calcium transport in the cells. Ocular findings, if present, are very rare in this condition. Here, we are reporting a case of keratosis follicularis (Darier's disease) with ocular manifestations that have not been reported so far to the best of our knowledge.

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Recurrent presumed herpes simplex keratitis and episcleritis in keratosis follicularis (Darier's disease)

Cited by 9 publications

References 12 publications

Darier disease: first molecular study of a Portuguese family

Darier disease: first molecular study of a Portuguese family

Severe Darier’s disease in a 39-year-old patient

Rare ocular manifestations in keratosis follicularis (Darier–White disease)

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