A doença de Darier (DD) é um distúrbio de queratinização caracterizado pelo desenvolvimento de pápulas ceratóticas em áreas seborreicas e anomalias ungueais específicas.
Introdução
O que você precisa saber de cara
A doença de Darier (DD) é um distúrbio de queratinização caracterizado pelo desenvolvimento de pápulas ceratóticas em áreas seborreicas e anomalias ungueais específicas.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 16 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 31 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.
This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen (PubMed:12542527, PubMed:16402920). Involved in autophagy in response to starvation. Upon interaction with VMP1 and activation, controls ER-isolation membrane contacts for autophagosome formation (PubMed:28890335). Also modulates ER contacts with lipid droplets, mitochondria and endosomes (PubMed:28890335). In coordination with FLVCR2 medi
Endoplasmic reticulum membraneSarcoplasmic reticulum membrane
Acrokeratosis verruciformis
A localized disorder of keratinization, which is inherited as an autosomal dominant trait. Its onset is early in life with multiple flat-topped, flesh-colored papules on the hands and feet, punctate keratoses on the palms and soles, with varying degrees of nail involvement. The histopathology shows a distinctive pattern of epidermal features with hyperkeratosis, hypergranulosis and acanthosis together with papillomatosis. These changes are frequently associated with circumscribed elevations of the epidermis that are said to resemble church spires. There are no features of dyskeratosis or acantholysis, the typical findings in lesions of Darier disease.
Variantes genéticas (ClinVar)
137 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 4 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
4 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Doença de Darier
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
5 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Expanding the spectrum of Darier Disease variants: 13 novel ATP2A2 genetic variations discovered in an Italian retrospective analysis.
Darier Disease (DD) is a rare autosomal dominant genodermatosis (prevalence: 1/30.000-100.000) characterized by hyperkeratotic papules in seborrheic areas, palmoplantar pits, distinctive nail dystrophy and in some cases neurological symptoms. ATP2A2, encoding for the sarco/endoplasmic reticulum calcium transporting ATPase2 (SERCA2), is the causative gene of DD. It is characterized by high penetrance but variable expressivity and the onset is usually in childhood/puberty. A cohort of 50 suspected DD subjects have been analysed by the Medical Genetics Unit of 'Mauro Baschirotto' Institute for Rare Diseases. We found ATP2A2 genetic variations in 48% (n = 24/50) of the tested subjects carrying 22 heterozygous genetic variations: 41% missense variants (n = 9/22), 32% nonsense variants (n = 7/22), 9% in/del variants (n = 2/22), 9% intronic variants (n = 2/22), one deletion in an exon splicing site, and one variant at the 5' UTR. Of the 22 variants 13 were firstly discovered by this study. Among the 13 novel variants the 5 missense variants (p.Trp36Gly, p.Glu90Val, p.Ile315Phe, p.Gly354Arg and p.Val620Phe) were analyzed using nine computational tools (SIFT, Polyphen2, PROVEAN, FATHMM, PSEP, CADD, REVEL, AlphaMissense and DynaMut). The variants were reported as deleterious by all the computational tools suggesting an important impact of these variants on the structure/function of SERCA2. We obtained discordant results only for the p.Trp36Gly variant, but according to PSEP, this residue is the less conserved among the tested ones. We hypothesized that this could be the explanation for the contradictory in silico predictions. We identified 1 novel indel (p.Ala305Serfs*5) and 3 novel nonsense (p.Glu238*, p.Glu486*, p.Ser553*) genetic variations all leading to the formation of a premature stop codon. We found 1 novel variant in the 5'UTR (c.-161G >A), 2 novel intronic variants (c.545-3T>G; c.2318+2T>C) and 1 variant in an exon-intron boundary (c.2315_2318del) which probably affect splicing. Our results provide new insights to expand the spectrum of the ATP2A2 gene variations.
Acantholytic disorders: Update on pathophysiology, diagnosis, and management.
Acantholytic skin disorders without a primary immunological etiology are characterized by impaired intercellular adhesion between epidermal keratinocytes. Genetic acantholytic disorders include Darier disease and Hailey-Hailey disease; the pathogenesis of Grover disease is unknown. Since these conditions are not commonly seen in clinical practice, diagnoses may be missed and there are no standardized guidelines to direct treatment. Topical steroids and retinoids are typically utilized for mild disease, and oral retinoids, particularly acitretin, have often been used for more severe disease, but efficacy is not universal. There is emerging evidence for biologics and small molecular inhibitors, including dupilumab, tumor necrosis factor-α inhibitors, apremilast, and Janus kinase inhibitors to treat refractory disease. Recent data and personal experience suggest potential efficacy of low-dose naltrexone as monotherapy or adjunctive treatment. Overactivity of the interleukin-17/23 and interleukin 4/13 axes or MAPK/ERK pathways may point to novel therapeutic strategies, including guselkumab. Direct SERCA activators may hold potential for treatment of Darier disease. This clinical review aims to equip physicians to diagnose acantholytic disorders and provide expert treatment recommendations based on emerging evidence. Acrokeratosis verruciformis of Hopf is a rare disorder of keratinization characterized by multiple, discrete, flat-topped, wart-like keratotic papules that predominantly involve acral surfaces, especially the dorsal hands and feet. The condition was originally described by Hopf in 1931. Subsequent comparative clinicopathological studies have addressed whether acrokeratosis verruciformis is distinct from or related to Darier disease, highlighting the importance of careful longitudinal clinical correlation. Lesions typically begin in childhood or adolescence and persist without spontaneous regression; patients may seek care for cosmetic concerns or diagnostic uncertainty. The distribution is characteristically acral, and lesions may clinically resemble plane warts, which frequently leads to initial misdiagnosis as verruca vulgaris. Histopathology often provides decisive confirmation because it reveals the classic architecture that distinguishes this entity from viral warts and other keratotic disorders. Although the overall course is benign, rare reports of malignant transformation, typically squamous cell carcinoma, arising in longstanding lesions have been documented, supporting periodic clinical surveillance in appropriate contexts.
Vitamins and the skin: Vitamin A and retinoids in dermatology.
Vitamin A and analogs are widely used in dermatology, with retinoids being natural and synthetic vitamin A derivatives. Topical retinoids (especially tretinoin and tretinoin precursors) can diminish photoaging and contribute to the thickening and restoration of skin collagen. Retinoids used as therapeutic agents include oral retinoids (eg, isotretinoin, acitretin, alitretinoin, and bexarotene) and topical retinoids (eg, isotretinoin, tretinoin, adapalene, tazarotene, and trifarotene). Although retinoids have traditionally been used for skin disorders of keratinization, such as psoriasis, pityriasis rubra pilaris, Darier disease, and ichthyoses, there is a variety of indications of retinoids for the treatment of skin diseases, including diseases of the pilosebaceous unit such as acne vulgaris, pigmentary disorders such as melasma, or cutaneous malignancies such as cutaneous T-cell lymphoma. Other retinoids with distinct routes of administration (oral or topical) and distinct dosing or safety profiles are recommended for different skin disorders. We discuss the mode of action and indications of retinoids used as pharmacologic agents in dermatology and provide an update on their use, effectiveness, and tolerability.
Interleukin (IL)-17A Inhibitor as a Treatment for Darier Disease in the Pediatric Population.
Darier disease is a genodermatosis that significantly affects patients' quality of life. We present the case of a 16-year-old patient whose quality of life remained markedly impaired despite systemic treatment. The patient experienced substantial clinical improvement in cutaneous lesions and quality of life following treatment with an interleukin (IL)-17A inhibitor. IL-17A inhibitors have demonstrated benefit in adults with Darier disease. In this case, we also observed therapeutic efficacy in a pediatric patient, supporting the relevance of this treatment approach in younger individuals. IL-17A inhibitors may play an important role in the management of Darier disease and represent a promising therapeutic option for pediatric patients, particularly in cases refractory to conventional therapies.
Paediatric-Onset Folliculitis Decalvans and Lichen Planopilaris Phenotypic Spectrum: Is It a Different Disease?
Folliculitis decalvans (FD) and lichen planopilaris (LPP) are classified as neutrophilic and lymphocytic cicatricial alopecias respectively. FD and LPP have distinctive clinical, trichoscopic and histopathological features. Cases with concomitant or sequential features of both forms of primary cicatricial alopecia (PCA) have been described since 2020, and the term folliculitis decalvans and lichen planopilaris phenotypic spectrum (FDLPPPS) has been proposed. This study aimed to describe the clinicopathological features and response to treatment of patients who developed FDLPPPS in childhood. A retrospective review of patients with FDLPPPS with an age of onset of ≤ 18 years seen in three dermatology clinics in Australia and one in Lebanon from August 2020 to February 2024 was conducted. Fourteen patients (10 females and four males) with a mean (SD) age of onset of 12.4 (4.4) years were identified. Five patients had genetic or congenital abnormalities, and two patients were sisters. Scalp symptoms included itch (n = 8), pain or tenderness (n = 5) and flaking (n = 1), with clinical signs of crusting (n = 12), erythema (n = 10) and pustules (n = 3). Seven patients presented with a solitary plaque and seven with multiple plaques, most commonly affecting the vertex scalp (n = 13). Histopathological examination showed a perifollicular lymphocytic infiltrate and concentric lamellar fibrosis in 13 and 14 cases respectively. Keratosis pilaris (KP) or one of its variants was observed in eight cases. Treatment led to disease stabilisation in seven cases, but hair loss progressed in six cases. FDLPPPS is an aggressive form of primary cicatricial alopecia that can rarely begin in childhood. Given the clinical features and association with KP or its variants in a significant proportion of our patients, we hypothesise that FDLPPPS may be a sequela of a disorder of keratinisation.
Publicações recentes
Dermoscopic Features of Follicular Dermatoses: A Cross-Sectional Study.
Combined use of isotretinoin and secukinumab in pediatric Darier disease: a sustained clinical response.
Expanding the spectrum of Darier Disease variants: 13 novel ATP2A2 genetic variations discovered in an Italian retrospective analysis.
Transient responses to biologic therapy in Darier disease: consider the role of dysbiosis-driven inflammation.
Acantholytic disorders: Update on pathophysiology, diagnosis, and management.
📚 EuropePMC333 artigos no totalmostrando 195
Combined use of isotretinoin and secukinumab in pediatric Darier disease: a sustained clinical response.
Italian journal of dermatology and venereologyExpanding the spectrum of Darier Disease variants: 13 novel ATP2A2 genetic variations discovered in an Italian retrospective analysis.
GeneTransient responses to biologic therapy in Darier disease: consider the role of dysbiosis-driven inflammation.
Journal of the European Academy of Dermatology and Venereology : JEADVAcantholytic disorders: Update on pathophysiology, diagnosis, and management.
Journal of the American Academy of DermatologyA Case of Darier Disease With p.N767S Mutation in ATP2A2 Successfully Treated With Upadacitinib.
The American Journal of dermatopathologyVitamins and the skin: Vitamin A and retinoids in dermatology.
Clinics in dermatologyInterleukin (IL)-17A Inhibitor as a Treatment for Darier Disease in the Pediatric Population.
CureusOral Magnesium: A Novel Approach in the Management of Hailey-Hailey and Darier Disease.
Journal of cutaneous medicine and surgeryAcitretin-induced psoriasis and Darier disease treated with adalimumab.
Anais brasileiros de dermatologiaEffective Treatment of Darier Disease With Abrocitinib Combined and Acitretin Capsules: A Case Report.
American journal of therapeuticsPaediatric-Onset Folliculitis Decalvans and Lichen Planopilaris Phenotypic Spectrum: Is It a Different Disease?
Experimental dermatologyMimicking Darier Disease In Vitro: A Human Epidermal Organoid Approach.
Experimental dermatologyAn Innovative Formula for Keratosis Pilaris Treatment-A Randomized Controlled Study Based on the "Exfoliation-Dissolution-Repair" Concept.
Journal of cosmetic dermatologyRetrospective Analysis of Nail Changes and Comorbidities in Darier Disease.
Skin appendage disordersCobblestone appearance of oral mucosa: A diagnostic conundrum.
SAGE open medical case reportsTopical Treatments for Rare Genetic Dermatological Diseases: A Narrative Review.
Pharmaceuticals (Basel, Switzerland)Darier disease is a syndromic epidermal differentiation disorder.
The British journal of dermatology'Who's going to love you with skin like that?' A patient's perspective of living with Darier disease.
Journal of the European Academy of Dermatology and Venereology : JEADVThe texture of resilience: a Darier disease perspective.
The British journal of dermatologySniffing Out Skin Disease: Odors in Dermatologic Conditions.
CutisImmunohistochemical Characterization of JAK Family Expression in the Primary Inflammatory Infiltrate of Lichen Planopilaris and Folliculitis Decalvans, With an Exploratory Clinical Assessment of Oral JAK Inhibitors.
International journal of dermatologyThe efficacy and tolerability of off-label dupilumab in acantholytic dyskeratotic disorders.
Journal of the American Academy of DermatologyNavigating Diagnostic Complexity in Hailey-Hailey Disease: A Case Report with Clinical-histopathological Correlation.
Prague medical reportLow-dose naltrexone for treatment of dermatologic conditions: A clinical review.
Journal of the American Academy of DermatologyPersonalized biologic treatments for patients with Darier disease result in varying responses.
Journal of the European Academy of Dermatology and Venereology : JEADVThe endoplasmic reticulum autophagy receptor TEX264 drives epidermal differentiation and is dysregulated in Darier disease.
bioRxiv : the preprint server for biologyA novel ATP2A2 variant in a Chinese family with Darier disease.
European journal of dermatology : EJDBardet-Biedl syndrome: a multisystem disorder with rare dermatological manifestations.
JPMA. The Journal of the Pakistan Medical AssociationIncreased activation of ErbB and NF-κB signalling pathways in Darier disease affected skin.
Journal of the European Academy of Dermatology and Venereology : JEADVLow-Dose Oral Naltrexone for Darier Disease.
CutisGenetics of Darier's Disease: New Insights into Pathogenic Mechanisms.
GenesExploring the Risk of Alcohol Addiction and Substance Use Disorders in Darier Disease and Hailey-Hailey Disease.
Acta dermato-venereologicaClinical Characteristics of Patients With Darier Disease in Southwestern Ontario.
Journal of cutaneous medicine and surgeryUnilateral breast Darier disease: A case report and literature review.
Medicine internationalIncreased caries risk in a Xerostomic patient with Darier disease: a case report of incipient and advanced carious lesions.
Oxford medical case reports[Case #6. Blashkolinear Darier disease].
Annales de pathologieCinacalcet-induced hypocalcaemia in refractory Darier disease.
The British journal of dermatology[Analysis of clinical feature and genetic variant in a Chinese Han pedigree affected with Darier's disease].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsFailed Metabolic Adaptation to Stress Underlies Pathogenesis in a Heterozygous Genetic Disorder.
bioRxiv : the preprint server for biologyTrametinib as a promising therapy for Darier disease: case report.
The British journal of dermatologyDarier disease: Golden era of discovery and global collaborations.
Journal of the European Academy of Dermatology and Venereology : JEADVAcrokeratosis verruciformis of Hopf: A rare presentation in a young Indian female-A case report and review.
Journal of family medicine and primary careA "boring" worm? New World screwworm neuromyiasis in a patient with Darier disease.
JAAD case reportsAuthor Correction: Microbial imbalance in Darier disease: Dominance of various staphylococcal species and absence of Cutibacteria.
Scientific reportsPruritus and Neuropsychiatric Symptoms Among Patients with Darier Disease-An Overlooked and Interconnected Challenge.
Journal of clinical medicineKyrle disease: a systematic review of clinical features, diagnostic approaches, dermatoscopic insights, systemic associations, and therapeutic strategies.
Archives of dermatological researchBrodalumab for Darier Disease: A Case Series Highlighting IL-17 Inhibition as a Potential Treatment.
International journal of dermatologyA patient with extensive Darier disease efficiently treated and maintained on doxycycline monotherapy.
JAAD case reportsSevere Darier's Disease by Mitochondrial DNA Insertion Causing Nonsense Mutations: In Silico Prediction of a Pathophysiological Mechanism to a Novel Mutation.
Experimental dermatologyDermoscopy of Onychopapilloma: A Benign Mimic of Subungual Malignancy.
CureusA case of multiple warty dyskeratomas overexpressing SERCA2 in acantholytic cells.
The Journal of dermatologyA Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca2+-ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar Myopathy.
Neuropathology and applied neurobiologyPapular Acantholytic Dyskeratosis of the Vulva: A Case Report and Literature Review.
Clinical, cosmetic and investigational dermatologyCarbon dioxide laser treatment for Darier disease.
JAAD internationalGrenz Ray Therapy for Darier Disease and Hailey-Hailey Disease: A Case Series of Three Patients.
The Australasian journal of dermatologyQualitative evidence on EQ-5D-5L skin irritation and self-confidence bolt-ons in Darier's disease and Hailey-Hailey disease.
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitationPatients with Darier disease have an increased risk of keratinocyte carcinoma: a Swedish registry-based nationwide cohort study.
Orphanet journal of rare diseasesDarier disease: Current insights and challenges in pathogenesis and management.
Journal of the European Academy of Dermatology and Venereology : JEADVA Rare Case of Darier Disease Flaring Up During Pregnancy.
CureusA novel ATP2A2 mutation in Darier and genotype phenotype: correlation analysis.
Genes & genomicsClearance of Darier disease lesions in a patient with concomitant atopic dermatitis treated with abrocitinib.
Journal of the European Academy of Dermatology and Venereology : JEADVMicrobial imbalance in Darier disease: Dominance of various staphylococcal species and absence of Cutibacteria.
Scientific reportsDermoscopic Features of Pili Annulati: Features of PA.
Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI)A Case of Darier Disease Treated With a Dye Laser.
Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI)ERK hyperactivation in epidermal keratinocytes impairs intercellular adhesion and drives Grover disease pathology.
JCI insightFolliculocentric tinea versicolor: a case report.
Journal of medical case reportsThe use of photodynamic therapy in the management of darier disease and Hailey-Hailey disease: a systematic review.
Archives of dermatological researchPumping the Breaks on Acantholytic Skin Disorders: Targeting Calcium Pumps, Desmosomes, and Downstream Signaling in Darier, Hailey-Hailey, and Grover Disease.
The Journal of investigative dermatologyEfficacy and safety of non-cross-linked hyaluronic acid compound in the treatment of keratosis pilaris: A split-body randomized clinical trial.
Journal of cosmetic dermatologyAcantholytic Dyskeratoses of the Vulva: Clinicopathologic Characterization of 16 Cases and Review of the Literature.
International journal of gynecological pathology : official journal of the International Society of Gynecological PathologistsSuccessful treatment of Darier disease with ablative fractional carbon dioxide laser.
Clinical and experimental dermatologyAcitretin induced primary hypothyroidism in Darier's disease: A rare case report.
Indian journal of pharmacologyDantrolene corrects cellular disease features of Darier disease and may be a novel treatment.
EMBO molecular medicineFavorable Response to Type 2 Inhibitors in Patients With Darier Disease.
JAMA dermatologySuccessful treatment of Darier's disease with apremilast and review of reported cases.
The Journal of dermatologyTreatment of Darier Disease with Radiation Therapy: Case Report and Literature Review.
Clinical, cosmetic and investigational dermatologyA Case of Noonan Syndrome and Kyrle's Disease: Coincidence or Causality?
Acta dermatovenerologica Croatica : ADCEfficacy of fractional radiofrequency in the treatment of erythematous capillary rosacea: A split-face study.
Journal of cosmetic dermatologyA novel ATP2A2 mutation in a familial case of Darier disease accompanied with intellectual disability.
The Journal of dermatologyA case of Darier disease with perioral cutaneous cobblestoning treated with dupilumab.
JAAD case reportsUnmet Needs in Darier's Disease from a Patient's Perspective: Lessons Learnt from the German Registry.
Acta dermato-venereologicaExtensive Darier disease accompanied by pterygium and scoliosis in a patient with a start codon mutation of the ATP2A2 gene.
Indian journal of dermatology, venereology and leprologyExtensive cornified Darier's disease: A rare presentation.
The Journal of dermatologyNovel ATP2A2 Gene Mutation c.118G>A Causing Keratinocyte and Cardiomyocyte Disconnection in Darier Disease.
BiomedicinesHailey-Hailey disease: clinical, diagnostic and therapeutic update.
Anais brasileiros de dermatologiaIncreased risk of depression and anxiety in individuals with Darier disease.
The British journal of dermatologyKeratosis Pilaris-Like Reaction Associated With Chromatin Remodeling Complex Inhibition in Uveal Melanoma.
JAMA dermatologyDiagnosis and management of longitudinal erythronychia: A clinical review by an expert panel.
Journal of the American Academy of DermatologyDarier disease: Histopathology revisited.
Indian journal of pathology & microbiology[Clinical, therapeutic and pathophysiological aspects of Darier's disease].
Revue medicale suissePersistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene.
JAMA dermatologyClaudin-4 Upregulation in Acantholytic and Autoimmune-Mediated Bullous Disorders.
Dermatopathology (Basel, Switzerland)Darier disease is associated with neurodegenerative disorders and epilepsy.
Scientific reportsExacerbation of Darier disease with lithium therapy.
Dermatology online journalHospitalization and Mortality in Patients With Darier Disease Complicated by Kaposi Varicelliform Eruption: A Systematic Review.
Journal of cutaneous medicine and surgeryLate-onset comedonal Darier disease with a novel frameshift mutation in ATP2A2.
European journal of dermatology : EJDKeratosis pilaris treatment paradigms: assessing effectiveness across modalities.
Clinical and experimental dermatologyThe first report of Tocilizumab for Darier disease with summer exacerbations.
Anais brasileiros de dermatologiaA Case of Noonan Syndrome and Kyrle Disease: Casualty or Causality?
Acta dermatovenerologica Croatica : ADCIdentification of a novel nonsense ATP2A2 gene variant in a patient with Darier's disease flare following COVID-19 infection: A case report.
MedicineZosteriform eruption in an adult male.
JAAD case reportsBacterial Skin Dysbiosis in Darier Disease.
Dermatology (Basel, Switzerland)Keratosis Punctata of Palmar Creases.
Journal of cutaneous medicine and surgeryDarier disease responding to apremilast: Report of two cases.
Indian journal of dermatology, venereology and leprologyMosaic Darier disease flaring following allogeneic stem cell transplant.
The Australasian journal of dermatologyMagnesium chloride-calcium carbonate treatment in a pregnant patient with severe Darier disease.
JAAD case reportsEvaluation of a Moisturizing Cream with 20% Urea for Keratosis Pilaris.
Journal of drugs in dermatology : JDDEfficacy of alitretinoin in the treatment of Darier disease: a case report.
Acta dermatovenerologica Alpina, Pannonica, et AdriaticaClinicopathologic and trichoscopic features of keratosis follicularis spinulosa decalvans: A case series study.
The Journal of dermatologyTh17-associated cytokines IL-17 and IL-23 in inflamed skin of Darier disease patients as potential therapeutic targets.
Nature communicationsKyrle disease: a case report and literature review.
European review for medical and pharmacological sciencesALA-PDT combined with 2940 nm ablative fractional Er:YAG laser for Darier's disease.
Photodiagnosis and photodynamic therapyIndividuals with Darier disease have an increased risk of suicide and self-injurious behaviours.
The British journal of dermatologyDermoscopic findings and comparison of usefulness of longitudinal versus transversal sections in the histological diagnosis of alopecia X.
Veterinary dermatologyPatients' perspective, quality of life and treatment goals in Hailey-Hailey disease: Lessons learned from the German National Registry.
Journal of the European Academy of Dermatology and Venereology : JEADVKeratosis Pilaris: Treatment Practices of Board-Certified Dermatologists.
Journal of drugs in dermatology : JDDDiagnosis and management of vulvar Darier disease: A case report.
Case reports in women's healthCombining antimicrobial substances for Campylobacter post harvest mitigation on chicken breast fillet and chicken skin - any synergistic effects?
Journal of applied microbiologyExacerbation of Very Late-Onset Darier Disease With COVID-19 Infection: A Case Report.
CureusDermoscopy as a Noninvasive Diagnostic Tool for Hailey-Hailey Disease and Darier Disease.
Dermatology and therapyIncidence and Prevalence of 73 Different Genodermatoses: A Nationwide Study in Sweden.
Acta dermato-venereologicaKeratosis pilaris-like eruptions in a child following COVID-19 vaccination.
International journal of dermatologyTargeting SERCA2 in organotypic epidermis reveals MEK inhibition as a therapeutic strategy for Darier disease.
JCI insightKeratosis follicularis (Darier disease) - clinical characteristics and treatment - a review and update.
Postepy dermatologii i alergologiiWarty dyskeratoma on the scalp mimicking keratoacanthoma.
Indian journal of pathology & microbiologySARS-CoV-2: an environmental trigger of Darier's disease?
The Journal of dermatological treatment[Translated article] Ulerythema Ophryogenes Induced by Dabrafenib.
Actas dermo-sifiliograficasDarier's disease exhibits a unique cutaneous microbial dysbiosis associated with inflammation and body malodour.
MicrobiomeMosaicism for ATP2A2 Mutation and Mutant Allelic Fractions Detected by Droplet Digital PCR in Simple Segmental Darier Disease.
Acta dermato-venereologicaDarier's disease: treatment with topical sodium diclofenac 3% gel.
Anais brasileiros de dermatologiaChicken skin based Milli Watt range biocompatible triboelectric nanogenerator for biomechanical energy harvesting.
Scientific reportsPerturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta.
Frontiers in endocrinologyAutosomal dominant genodermatoses in adults being heralded by superimposed skin lesions in children.
American journal of medical genetics. Part C, Seminars in medical geneticsAssociation of Somatic ATP2A2 Damaging Variants With Grover Disease.
JAMA dermatologyKeratosis pilaris: an update and approach to management.
Italian journal of dermatology and venereologyFamilial comedonal Darier's disease: a new ATP2A2 mutation with intra-family clinical heterogeneity.
International journal of dermatologyDermatoses in overweight and obese children and their relationship with insulin and skin color.
Journal of cosmetic dermatology[Eyelid manifestations in patients with Darier-White disease].
Journal francais d'ophtalmologieCase of type 1 segmental Darier's disease with a novel mosaic mutation in the ATP2A2 gene.
The Journal of dermatologyHeterozygous ATP2A2 missense variant identified in a Shih Tzu with Darier disease.
Animal geneticsFollicular Variant of Acquired Dermal Macular Hyperpigmentation: A Case Report.
CureusA Case of Segmental Darier Disease.
Acta dermatovenerologica Croatica : ADCDermoscopy of Zosteriform and Swirling Pattern Type 1 Segmental Darier Disease.
Acta dermatovenerologica Croatica : ADCLine-field confocal optical coherence tomography of Darier's disease: A case series with histopathological correlation.
Journal of the European Academy of Dermatology and Venereology : JEADVKaposi varicelliform eruption due to disseminated herpes simplex in a patient with known Darier disease.
The American journal of the medical sciencesIncreased Hemichannel Activity Displayed by a Connexin43 Mutation Causing a Familial Connexinopathy Exhibiting Hypotrichosis with Follicular Keratosis and Hyperostosis.
International journal of molecular sciencesCombination of Naltrexone and Isotretinoin for the Treatment of Darier Disease.
CureusCOVID-19 infection- and vaccination-related exacerbation of Darier's disease in a single patient.
The Journal of dermatologyDermoscopy of Darier's disease in dark phototypes: An observational study by the International Dermoscopy Society task force on 'imaging in skin of colour'.
Journal of the European Academy of Dermatology and Venereology : JEADVInterleukin-17A immune pattern across genetic acantholytic and blistering disorders.
Clinical and experimental dermatologyA rare case of type I segmental comedonal and hypertrophic Darier's disease (DD).
International journal of dermatologyAcral hemorrhagic Darier disease: A case report of a rare presentation and literature review.
JAAD case reportsDermatological manifestations, management, and care in RASopathies.
American journal of medical genetics. Part C, Seminars in medical geneticsMultiple papules on the hands and limbs in an 18-year-old male.
Pediatric dermatologyKeratosis follicularis spinulosa decalvans in a woman with XY karyotype.
International journal of dermatologySubcellular compartmentalization of STIM1 for the distinction of Darier disease from Hailey-Hailey disease.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGRefractory facial Darier's disease treated with daylight photodynamic therapy.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGLate onset Darier's disease in a genetically predisposed individual: a case report.
The Pan African medical journalAnti-desmoglein 1 antibody-positive mother and antibody-negative child with Darier's disease.
The Journal of dermatologyLinear Darier disease after COVID-19 infection.
JAAD case reportsRoger Money-Kyrle's 1934 paper on war: the context and personal background.
The International journal of psycho-analysisRetinoid-induced skeletal hyperostosis in disorders of keratinization.
Clinical and experimental dermatologyKeratosis Pilaris Treatment: Evidence from Intervention Studies.
SkinmedAcrokeratosis verruciformis of Hopf: Dermoscopic approach in lighter phototypes.
Journal of the European Academy of Dermatology and Venereology : JEADVInfected thoracic aortic graft in a woman with Darier disease: a case report.
European heart journal. Case reportsCase report: Grönblad-Strandberg syndrome.
Romanian journal of ophthalmologyClinical and Dermoscopic Evaluation of Trichloroacetic Acid 20% Versus Long-Pulsed 1064-nm Nd-YAG Laser in the Treatment of Keratosis Pilaris.
Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]Darier Disease with Psoriasis.
Medicina (Kaunas, Lithuania)Darier disease: the use of dermoscopy in monitoring acitretin treatment.
Anais brasileiros de dermatologiaTwo Cases of Darier Disease Efficiently Treated With Combination of Oral Retinoids and Diclofenac Sodium 3% Gel.
Actas dermo-sifiliograficasClinical and Histopathological Findings in a Patient of Darier-White Disease with Acrokertasosis Verruciformis of Hopf.
Case reports in dermatological medicineImpaired calcium signalling and neuropsychiatric disorders in Darier disease: An exploratory review.
Experimental dermatologyAcrokeratosis verruciformis of Hopf: dermoscopy approach in dark skin patients.
Journal of the European Academy of Dermatology and Venereology : JEADVComparative study of the efficacy of fractional Er: YAG 2940 nm laser and Q-switched Nd: YAG 1064 nm laser in keratosis pilaris.
Journal of cosmetic dermatologyDarier disease successfully treated with conventional photodynamic therapy.
Journal of the European Academy of Dermatology and Venereology : JEADVProminent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation.
GenesOn Darier Disease: A Case Series of 20 Patients and Review of the Literature.
Actas dermo-sifiliograficasAlgorithm proposal for hair transplantation in fibrosing alopecia pattern distributidon.
Journal of cosmetic dermatologyKeratosis pilaris and filaggrin loss-of-function mutations in patients with atopic dermatitis - Results of a Finnish cross-sectional study.
The Journal of dermatologyTreatment of keratosis pilaris rubra with 577-nm pro-yellow laser.
Journal of cosmetic dermatologyKeratosis Pilaris in an Ovarian Cancer Patient Treated with Bevacizumab and Doxorubicin.
SkinmedDermatological and genetic data in tuberous sclerosis: A prospective single-center study of 38 patients.
Annales de dermatologie et de venereologieKeratosis follicularis spinulosa decalvans-like cicatricial alopecia in a patient with cardiofaciocutaneous syndrome.
Clinical and experimental dermatologyDarier disease successfully treated with a topical agent containing vitamin A (retinyl palmitate), vitamin E, and urea.
The Journal of dermatologyA case of segmental form of type 1 mosaic Darier's disease.
Acta dermatovenerologica Alpina, Pannonica, et AdriaticaWhole-transcriptome sequencing identifies postzygotic ATP2A2 mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late-onset segmental Darier disease.
Experimental dermatologyPersistent perianal "warts".
JAAD case reportsKeratosis pilaris rubra successfully treated with topical sirolimus: Report of a case and review of the literature.
Pediatric dermatologyFollicular keratosis of the face in pediatric patients of color.
Pediatric dermatologyClinicopathological correlation of transient acantholytic dermatosis: A case report.
Experimental and therapeutic medicineNot just acne or keratosis pilaris-like eruption: A case of trichodysplasia-associated polyomavirus in a child with lymphoma.
Pediatric blood & cancerColonic Chicken Skin Mucosa Surrounding Colon Polyps Is an Endoscopic Predictive Marker for Colonic Neoplastic Polyps.
Gut and liverNoonan Syndrome Presenting with Stunted Growth: A Case Report.
Mymensingh medical journal : MMJKeratosis pilaris in collagen type VI-related disorders.
Pediatric dermatology[Established Genital and Extragenital Lichen Sclerosus:A Clinicopathological Analysis].
Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae SinicaeAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Expanding the spectrum of Darier Disease variants: 13 novel ATP2A2 genetic variations discovered in an Italian retrospective analysis.
- Acantholytic disorders: Update on pathophysiology, diagnosis, and management.
- Vitamins and the skin: Vitamin A and retinoids in dermatology.
- Interleukin (IL)-17A Inhibitor as a Treatment for Darier Disease in the Pediatric Population.
- Paediatric-Onset Folliculitis Decalvans and Lichen Planopilaris Phenotypic Spectrum: Is It a Different Disease?
- Dermoscopic Features of Follicular Dermatoses: A Cross-Sectional Study.
- Combined use of isotretinoin and secukinumab in pediatric Darier disease: a sustained clinical response.
- Transient responses to biologic therapy in Darier disease: consider the role of dysbiosis-driven inflammation.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:218(Orphanet)
- OMIM OMIM:124200(OMIM)
- MONDO:0007417(MONDO)
- GARD:6243(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q580506(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
