Severe Darier's disease in a psychiatric patient

Yang, Jeane Jeong Hoon; Lopes, Roberta Simão; Pereira, Medéia Carolina Fernandes; Tebcherani, Antônio José; Pires, Mário Cézar

doi:10.1590/abd1806-4841.20153620

Cited by 5 publications

(6 citation statements)

References 9 publications

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“…Bipolar disorder and major depression have also been mapped to this region. This further supports the hypothesis that an inherited genetic defect within this region may yield some susceptibility to both diseases 47 …”

Section: Reviewsupporting

confidence: 85%

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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Section: Reviewsupporting

confidence: 85%

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

Ambur

Zaidi²,

Dunn

et al. 2022

Experimental Dermatology

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“…Of note, an interesting theory states that on account of the high expressions of calcium pumps in the brain tissue, DD may be associated with neuropsychiatric disorders [9]. Recent reports have presented an association of dyskeratosis follicularis with psychiatric abnormalities, such as schizophrenia [10], intellectual impairment, deterioration of mental abilities, bipolar disorder [11] and depression [12]. Our patient underwent psychiatric evaluation and was not found to have any associated mental illnesses.…”

Section: Discussionmentioning

confidence: 73%

Darier Disease – A Clinical Illustration of Its High Variable Expressivity

Beiu

Giurcăneanu

Mihai

et al. 2019

Cureus

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Darier disease (DD), also known as dyskeratosis follicularis, is a rare genodermatosis classically characterized by persistent hyperkeratotic papules and plaques affecting the seborrheic areas. Due to its variable expressivity, it can present with very discrete clinical features for many years, leading to diagnostic errors and incorrect treatments.We report an unusual case of Darier disease in a 69-year-old male patient in which the classical features of DD had a remarkably late onset. This patient had a several decades' history of small, recurrent, scattered papules, limited to the face, for which he had received multiple diagnostic interpretations, such as acne or recurrent staphylococcal skin infection. We established the diagnosis of DD with superinfected lesions, and initiated treatment with intravenous antibiotics and oral retinoids. Results were extremely satisfactory in a very short time.This case shows an extremely unusual clinical course of Darier disease and is illustrative for the variable expressivity of the disease. It highlights the need to take dyskeratosis follicularis into account in patients with a longstanding history of persistent, hyperkeratotic papules, from unknown origin, even in the absence of the classical clinical findings.

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“…The patients are at risk of an increased incidence of depression, suicidal thoughts and tendencies, bipolar disorders, psychoses, and mental impairment. Co-occurrence of the above disorders is probably caused by an ATP2A2 gene mutation, which undergoes expression in skin and brain [8,9] [2,3].…”

Section: Discussionmentioning

confidence: 99%

“…Wśród pacjentów stwierdza się zwiększoną zapadalność na depresję, myśli i skłonności samobójcze, chorobę dwubiegunową, psychozy, a także upośledzenie umysłowe. Za współwystępowanie powyższych zaburzeń prawdopodobnie odpowiada mutacja genu ATP2A2, który ulega ekspresji zarówno w skórze, jak i mózgu [8,9]. Według Gordona-Smitha i wsp., którzy przebadali 100 pacjentów z chorobą Dariera, schorzenia psychiatryczne zdiagnozowane u badanych nie były reakcją psychologiczną na zmiany skórne, lecz zaburzeniami niezależnymi od wykwitów skórnych.…”

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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Severe Darier's disease in a psychiatric patient

Cited by 5 publications

References 9 publications

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

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

Darier Disease – A Clinical Illustration of Its High Variable Expressivity

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

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