Raras
Buscar doenças, sintomas, genes...
Doença de Darier
ORPHA:218CID-10 · Q82.8CID-11 · EC20.2OMIM 124200DOENÇA RARA

A doença de Darier (DD) é um distúrbio de queratinização caracterizado pelo desenvolvimento de pápulas ceratóticas em áreas seborreicas e anomalias ungueais específicas.

Mantido por Agente Raras·Colaborar como especialista →

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.

Pesquisas ativas
1 ensaio
5 total registrados no ClinicalTrials.gov
Publicações científicas
456 artigos
Último publicado: 2026 Jan 30

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
3.0
United Kingdom
Início
Adolescent
+ adult, childhood
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q82.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧬
Pele e cabelo
9 sintomas
🧠
Neurológico
4 sintomas
👁️
Olhos
1 sintomas
🫃
Digestivo
1 sintomas

+ 16 sintomas em outras categorias

Características mais comuns

90%prev.
Fragmentos hiperceratóticos subungueais
Muito frequente (99-80%)
90%prev.
Pápula hiperceratótica
Muito frequente (99-80%)
90%prev.
Prurido
Muito frequente (99-80%)
90%prev.
Morfologia anormal da unha
Muito frequente (99-80%)
90%prev.
Acroceratose
Muito frequente (99-80%)
55%prev.
Unhas frágeis
Frequente (79-30%)
31sintomas
Muito frequente (5)
Frequente (12)
Ocasional (8)
Sem dados (6)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 31 características clínicas mais associadas, ordenadas por frequência.

Fragmentos hiperceratóticos subungueaisSubungual hyperkeratotic fragments
Muito frequente (99-80%)90%
Pápula hiperceratóticaHyperkeratotic papule
Muito frequente (99-80%)90%
PruridoPruritus
Muito frequente (99-80%)90%
Morfologia anormal da unhaAbnormality of the nail
Muito frequente (99-80%)90%
AcroceratoseAcrokeratosis
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico456PubMed
Últimos 10 anos200publicações
Pico202350 papers
Linha do tempo
2026Hoje · 2026🧪 1977Primeiro ensaio clínico📈 2023Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

ATP2A2Sarcoplasmic/endoplasmic reticulum calcium ATPase 2Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Endoplasmic reticulum membraneSarcoplasmic reticulum membrane

VIAS BIOLÓGICAS (3)
Pre-NOTCH Processing in GolgiIon homeostasisIon transport by P-type ATPases
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (2)
Darier diseaseacrokeratosis verruciformis
HGNC:812UniProt:P16615

Variantes genéticas (ClinVar)

137 variantes patogênicas registradas no ClinVar.

🧬 ATP2A2: NM_170665.4(ATP2A2):c.2788_2790dup (p.Ile930_Trp931insIle) ()
🧬 ATP2A2: NM_170665.4(ATP2A2):c.1389_1390insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCGCGCCCGGCCTGAAGGGTCTTTCT (p.Ser463_Lys464insPhePhePhePhePhePheXaaXaaXaaXaaProAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaGlyAlaThrAlaProGlyLeuLysGlyLeuSer) ()
🧬 ATP2A2: NM_170665.4(ATP2A2):c.1264_1265dup (p.Asp422fs) ()
🧬 ATP2A2: NM_170665.4(ATP2A2):c.2839del (p.Leu947fs) ()
🧬 ATP2A2: NC_000012.12:g.110345247AG[1] ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 4 variantes classificadas pelo ClinVar.

4
Patogênica (100.0%)
VARIANTES MAIS SIGNIFICATIVAS
ATP2A2: NM_170665.4(ATP2A2):c.2305G>A (p.Gly769Arg) [Pathogenic]
ATP2A2: NM_170665.4(ATP2A2):c.2682C>A (p.Tyr894Ter) [Pathogenic]
ATP2A2: NM_170665.4(ATP2A2):c.803G>T (p.Cys268Phe) [Pathogenic]
ATP2A2: NM_170665.4(ATP2A2):c.2300A>G (p.Asn767Ser) [Pathogenic/Likely pathogenic]

Vias biológicas (Reactome)

4 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
1Fase 11
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 3 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Doença de Darier

🗺️

Selecione um estado ou use sua localização para ver resultados.

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

🟢 Recrutando agora

1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

5 ensaios clínicos encontrados, 1 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
271 papers (10 anos)
#1

Expanding the spectrum of Darier Disease variants: 13 novel ATP2A2 genetic variations discovered in an Italian retrospective analysis.

Gene2026 May 10

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.

#2

Acantholytic disorders: Update on pathophysiology, diagnosis, and management.

Journal of the American Academy of Dermatology2026 Feb 21

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.

#3

Vitamins and the skin: Vitamin A and retinoids in dermatology.

Clinics in dermatology2026 Feb 13

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.

#4

Interleukin (IL)-17A Inhibitor as a Treatment for Darier Disease in the Pediatric Population.

Cureus2026 Jan

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.

#5

Paediatric-Onset Folliculitis Decalvans and Lichen Planopilaris Phenotypic Spectrum: Is It a Different Disease?

Experimental dermatology2026 Jan

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

Ver todas no PubMed

📚 EuropePMC333 artigos no totalmostrando 195

2026

Combined use of isotretinoin and secukinumab in pediatric Darier disease: a sustained clinical response.

Italian journal of dermatology and venereology
2026

Expanding the spectrum of Darier Disease variants: 13 novel ATP2A2 genetic variations discovered in an Italian retrospective analysis.

Gene
2026

Transient responses to biologic therapy in Darier disease: consider the role of dysbiosis-driven inflammation.

Journal of the European Academy of Dermatology and Venereology : JEADV
2026

Acantholytic disorders: Update on pathophysiology, diagnosis, and management.

Journal of the American Academy of Dermatology
2026

A Case of Darier Disease With p.N767S Mutation in ATP2A2 Successfully Treated With Upadacitinib.

The American Journal of dermatopathology
2026

Vitamins and the skin: Vitamin A and retinoids in dermatology.

Clinics in dermatology
2026

Interleukin (IL)-17A Inhibitor as a Treatment for Darier Disease in the Pediatric Population.

Cureus
2026

Oral Magnesium: A Novel Approach in the Management of Hailey-Hailey and Darier Disease.

Journal of cutaneous medicine and surgery
2026

Acitretin-induced psoriasis and Darier disease treated with adalimumab.

Anais brasileiros de dermatologia
2026

Effective Treatment of Darier Disease With Abrocitinib Combined and Acitretin Capsules: A Case Report.

American journal of therapeutics
2026

Paediatric-Onset Folliculitis Decalvans and Lichen Planopilaris Phenotypic Spectrum: Is It a Different Disease?

Experimental dermatology
2025

Mimicking Darier Disease In Vitro: A Human Epidermal Organoid Approach.

Experimental dermatology
2026

An Innovative Formula for Keratosis Pilaris Treatment-A Randomized Controlled Study Based on the "Exfoliation-Dissolution-Repair" Concept.

Journal of cosmetic dermatology
2025

Retrospective Analysis of Nail Changes and Comorbidities in Darier Disease.

Skin appendage disorders
2025

Cobblestone appearance of oral mucosa: A diagnostic conundrum.

SAGE open medical case reports
2025

Topical Treatments for Rare Genetic Dermatological Diseases: A Narrative Review.

Pharmaceuticals (Basel, Switzerland)
2026

Darier disease is a syndromic epidermal differentiation disorder.

The British journal of dermatology
2025

'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 : JEADV
2026

The texture of resilience: a Darier disease perspective.

The British journal of dermatology
2025

Sniffing Out Skin Disease: Odors in Dermatologic Conditions.

Cutis
2025

Immunohistochemical 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 dermatology
2026

The efficacy and tolerability of off-label dupilumab in acantholytic dyskeratotic disorders.

Journal of the American Academy of Dermatology
2025

Navigating Diagnostic Complexity in Hailey-Hailey Disease: A Case Report with Clinical-histopathological Correlation.

Prague medical report
2026

Low-dose naltrexone for treatment of dermatologic conditions: A clinical review.

Journal of the American Academy of Dermatology
2026

Personalized biologic treatments for patients with Darier disease result in varying responses.

Journal of the European Academy of Dermatology and Venereology : JEADV
2025

The endoplasmic reticulum autophagy receptor TEX264 drives epidermal differentiation and is dysregulated in Darier disease.

bioRxiv : the preprint server for biology
2025

A novel ATP2A2 variant in a Chinese family with Darier disease.

European journal of dermatology : EJD
2025

Bardet-Biedl syndrome: a multisystem disorder with rare dermatological manifestations.

JPMA. The Journal of the Pakistan Medical Association
2026

Increased activation of ErbB and NF-κB signalling pathways in Darier disease affected skin.

Journal of the European Academy of Dermatology and Venereology : JEADV
2025

Low-Dose Oral Naltrexone for Darier Disease.

Cutis
2025

Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.

Genes
2025

Exploring the Risk of Alcohol Addiction and Substance Use Disorders in Darier Disease and Hailey-Hailey Disease.

Acta dermato-venereologica
2026

Clinical Characteristics of Patients With Darier Disease in Southwestern Ontario.

Journal of cutaneous medicine and surgery
2025

Unilateral breast Darier disease: A case report and literature review.

Medicine international
2025

Increased caries risk in a Xerostomic patient with Darier disease: a case report of incipient and advanced carious lesions.

Oxford medical case reports
2025

[Case #6. Blashkolinear Darier disease].

Annales de pathologie
2025

Cinacalcet-induced hypocalcaemia in refractory Darier disease.

The British journal of dermatology
2025

[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 genetics
2025

Failed Metabolic Adaptation to Stress Underlies Pathogenesis in a Heterozygous Genetic Disorder.

bioRxiv : the preprint server for biology
2025

Trametinib as a promising therapy for Darier disease: case report.

The British journal of dermatology
2025

Darier disease: Golden era of discovery and global collaborations.

Journal of the European Academy of Dermatology and Venereology : JEADV
2025

Acrokeratosis verruciformis of Hopf: A rare presentation in a young Indian female-A case report and review.

Journal of family medicine and primary care
2025

A "boring" worm? New World screwworm neuromyiasis in a patient with Darier disease.

JAAD case reports
2025

Author Correction: Microbial imbalance in Darier disease: Dominance of various staphylococcal species and absence of Cutibacteria.

Scientific reports
2025

Pruritus and Neuropsychiatric Symptoms Among Patients with Darier Disease-An Overlooked and Interconnected Challenge.

Journal of clinical medicine
2025

Kyrle disease: a systematic review of clinical features, diagnostic approaches, dermatoscopic insights, systemic associations, and therapeutic strategies.

Archives of dermatological research
2025

Brodalumab for Darier Disease: A Case Series Highlighting IL-17 Inhibition as a Potential Treatment.

International journal of dermatology
2025

A patient with extensive Darier disease efficiently treated and maintained on doxycycline monotherapy.

JAAD case reports
2025

Severe Darier's Disease by Mitochondrial DNA Insertion Causing Nonsense Mutations: In Silico Prediction of a Pathophysiological Mechanism to a Novel Mutation.

Experimental dermatology
2025

Dermoscopy of Onychopapilloma: A Benign Mimic of Subungual Malignancy.

Cureus
2025

A case of multiple warty dyskeratomas overexpressing SERCA2 in acantholytic cells.

The Journal of dermatology
2025

A Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca2+-ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar Myopathy.

Neuropathology and applied neurobiology
2025

Papular Acantholytic Dyskeratosis of the Vulva: A Case Report and Literature Review.

Clinical, cosmetic and investigational dermatology
2025

Carbon dioxide laser treatment for Darier disease.

JAAD international
2025

Grenz Ray Therapy for Darier Disease and Hailey-Hailey Disease: A Case Series of Three Patients.

The Australasian journal of dermatology
2025

Qualitative 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 rehabilitation
2024

Patients with Darier disease have an increased risk of keratinocyte carcinoma: a Swedish registry-based nationwide cohort study.

Orphanet journal of rare diseases
2025

Darier disease: Current insights and challenges in pathogenesis and management.

Journal of the European Academy of Dermatology and Venereology : JEADV
2024

A Rare Case of Darier Disease Flaring Up During Pregnancy.

Cureus
2025

A novel ATP2A2 mutation in Darier and genotype phenotype: correlation analysis.

Genes &amp; genomics
2025

Clearance of Darier disease lesions in a patient with concomitant atopic dermatitis treated with abrocitinib.

Journal of the European Academy of Dermatology and Venereology : JEADV
2024

Microbial imbalance in Darier disease: Dominance of various staphylococcal species and absence of Cutibacteria.

Scientific reports
2024

Dermoscopic 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)
2024

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)
2024

ERK hyperactivation in epidermal keratinocytes impairs intercellular adhesion and drives Grover disease pathology.

JCI insight
2024

Folliculocentric tinea versicolor: a case report.

Journal of medical case reports
2024

The use of photodynamic therapy in the management of darier disease and Hailey-Hailey disease: a systematic review.

Archives of dermatological research
2025

Pumping the Breaks on Acantholytic Skin Disorders: Targeting Calcium Pumps, Desmosomes, and Downstream Signaling in Darier, Hailey-Hailey, and Grover Disease.

The Journal of investigative dermatology
2024

Efficacy and safety of non-cross-linked hyaluronic acid compound in the treatment of keratosis pilaris: A split-body randomized clinical trial.

Journal of cosmetic dermatology
2025

Acantholytic 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 Pathologists
2024

Successful treatment of Darier disease with ablative fractional carbon dioxide laser.

Clinical and experimental dermatology
2024

Acitretin induced primary hypothyroidism in Darier's disease: A rare case report.

Indian journal of pharmacology
2024

Dantrolene corrects cellular disease features of Darier disease and may be a novel treatment.

EMBO molecular medicine
2024

Favorable Response to Type 2 Inhibitors in Patients With Darier Disease.

JAMA dermatology
2025

Successful treatment of Darier's disease with apremilast and review of reported cases.

The Journal of dermatology
2024

Treatment of Darier Disease with Radiation Therapy: Case Report and Literature Review.

Clinical, cosmetic and investigational dermatology
2024

A Case of Noonan Syndrome and Kyrle's Disease: Coincidence or Causality?

Acta dermatovenerologica Croatica : ADC
2024

Efficacy of fractional radiofrequency in the treatment of erythematous capillary rosacea: A split-face study.

Journal of cosmetic dermatology
2025

A novel ATP2A2 mutation in a familial case of Darier disease accompanied with intellectual disability.

The Journal of dermatology
2024

A case of Darier disease with perioral cutaneous cobblestoning treated with dupilumab.

JAAD case reports
2024

Unmet Needs in Darier's Disease from a Patient's Perspective: Lessons Learnt from the German Registry.

Acta dermato-venereologica
2024

Extensive 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 leprology
2024

Extensive cornified Darier's disease: A rare presentation.

The Journal of dermatology
2024

Novel ATP2A2 Gene Mutation c.118G>A Causing Keratinocyte and Cardiomyocyte Disconnection in Darier Disease.

Biomedicines
2024

Hailey-Hailey disease: clinical, diagnostic and therapeutic update.

Anais brasileiros de dermatologia
2024

Increased risk of depression and anxiety in individuals with Darier disease.

The British journal of dermatology
2024

Keratosis Pilaris-Like Reaction Associated With Chromatin Remodeling Complex Inhibition in Uveal Melanoma.

JAMA dermatology
2024

Diagnosis and management of longitudinal erythronychia: A clinical review by an expert panel.

Journal of the American Academy of Dermatology
2024

Darier disease: Histopathology revisited.

Indian journal of pathology &amp; microbiology
2024

[Clinical, therapeutic and pathophysiological aspects of Darier's disease].

Revue medicale suisse
2024

Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene.

JAMA dermatology
2023

Claudin-4 Upregulation in Acantholytic and Autoimmune-Mediated Bullous Disorders.

Dermatopathology (Basel, Switzerland)
2024

Darier disease is associated with neurodegenerative disorders and epilepsy.

Scientific reports
2023

Exacerbation of Darier disease with lithium therapy.

Dermatology online journal
2024

Hospitalization and Mortality in Patients With Darier Disease Complicated by Kaposi Varicelliform Eruption: A Systematic Review.

Journal of cutaneous medicine and surgery
2023

Late-onset comedonal Darier disease with a novel frameshift mutation in ATP2A2.

European journal of dermatology : EJD
2024

Keratosis pilaris treatment paradigms: assessing effectiveness across modalities.

Clinical and experimental dermatology
2024

The first report of Tocilizumab for Darier disease with summer exacerbations.

Anais brasileiros de dermatologia
2023

A Case of Noonan Syndrome and Kyrle Disease: Casualty or Causality?

Acta dermatovenerologica Croatica : ADC
2024

Identification of a novel nonsense ATP2A2 gene variant in a patient with Darier's disease flare following COVID-19 infection: A case report.

Medicine
2024

Zosteriform eruption in an adult male.

JAAD case reports
2024

Bacterial Skin Dysbiosis in Darier Disease.

Dermatology (Basel, Switzerland)
2024

Keratosis Punctata of Palmar Creases.

Journal of cutaneous medicine and surgery
2024

Darier disease responding to apremilast: Report of two cases.

Indian journal of dermatology, venereology and leprology
2024

Mosaic Darier disease flaring following allogeneic stem cell transplant.

The Australasian journal of dermatology
2024

Magnesium chloride-calcium carbonate treatment in a pregnant patient with severe Darier disease.

JAAD case reports
2024

Evaluation of a Moisturizing Cream with 20% Urea for Keratosis Pilaris.

Journal of drugs in dermatology : JDD
2023

Efficacy of alitretinoin in the treatment of Darier disease: a case report.

Acta dermatovenerologica Alpina, Pannonica, et Adriatica
2024

Clinicopathologic and trichoscopic features of keratosis follicularis spinulosa decalvans: A case series study.

The Journal of dermatology
2023

Th17-associated cytokines IL-17 and IL-23 in inflamed skin of Darier disease patients as potential therapeutic targets.

Nature communications
2023

Kyrle disease: a case report and literature review.

European review for medical and pharmacological sciences
2024

ALA-PDT combined with 2940 nm ablative fractional Er:YAG laser for Darier's disease.

Photodiagnosis and photodynamic therapy
2024

Individuals with Darier disease have an increased risk of suicide and self-injurious behaviours.

The British journal of dermatology
2024

Dermoscopic findings and comparison of usefulness of longitudinal versus transversal sections in the histological diagnosis of alopecia X.

Veterinary dermatology
2024

Patients' 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 : JEADV
2023

Keratosis Pilaris: Treatment Practices of Board-Certified Dermatologists.

Journal of drugs in dermatology : JDD
2023

Diagnosis and management of vulvar Darier disease: A case report.

Case reports in women's health
2023

Combining antimicrobial substances for Campylobacter post harvest mitigation on chicken breast fillet and chicken skin - any synergistic effects?

Journal of applied microbiology
2023

Exacerbation of Very Late-Onset Darier Disease With COVID-19 Infection: A Case Report.

Cureus
2023

Dermoscopy as a Noninvasive Diagnostic Tool for Hailey-Hailey Disease and Darier Disease.

Dermatology and therapy
2023

Incidence and Prevalence of 73 Different Genodermatoses: A Nationwide Study in Sweden.

Acta dermato-venereologica
2023

Keratosis pilaris-like eruptions in a child following COVID-19 vaccination.

International journal of dermatology
2023

Targeting SERCA2 in organotypic epidermis reveals MEK inhibition as a therapeutic strategy for Darier disease.

JCI insight
2023

Keratosis follicularis (Darier disease) - clinical characteristics and treatment - a review and update.

Postepy dermatologii i alergologii
2023

Warty dyskeratoma on the scalp mimicking keratoacanthoma.

Indian journal of pathology &amp; microbiology
2023

SARS-CoV-2: an environmental trigger of Darier's disease?

The Journal of dermatological treatment
2023

[Translated article] Ulerythema Ophryogenes Induced by Dabrafenib.

Actas dermo-sifiliograficas
2023

Darier's disease exhibits a unique cutaneous microbial dysbiosis associated with inflammation and body malodour.

Microbiome
2023

Mosaicism for ATP2A2 Mutation and Mutant Allelic Fractions Detected by Droplet Digital PCR in Simple Segmental Darier Disease.

Acta dermato-venereologica
2023

Darier's disease: treatment with topical sodium diclofenac 3% gel.

Anais brasileiros de dermatologia
2023

Chicken skin based Milli Watt range biocompatible triboelectric nanogenerator for biomechanical energy harvesting.

Scientific reports
2023

Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta.

Frontiers in endocrinology
2023

Autosomal dominant genodermatoses in adults being heralded by superimposed skin lesions in children.

American journal of medical genetics. Part C, Seminars in medical genetics
2023

Association of Somatic ATP2A2 Damaging Variants With Grover Disease.

JAMA dermatology
2023

Keratosis pilaris: an update and approach to management.

Italian journal of dermatology and venereology
2023

Familial comedonal Darier's disease: a new ATP2A2 mutation with intra-family clinical heterogeneity.

International journal of dermatology
2023

Dermatoses in overweight and obese children and their relationship with insulin and skin color.

Journal of cosmetic dermatology
2023

[Eyelid manifestations in patients with Darier-White disease].

Journal francais d'ophtalmologie
2023

Case of type 1 segmental Darier's disease with a novel mosaic mutation in the ATP2A2 gene.

The Journal of dermatology
2023

Heterozygous ATP2A2 missense variant identified in a Shih Tzu with Darier disease.

Animal genetics
2023

Follicular Variant of Acquired Dermal Macular Hyperpigmentation: A Case Report.

Cureus
2022

A Case of Segmental Darier Disease.

Acta dermatovenerologica Croatica : ADC
2022

Dermoscopy of Zosteriform and Swirling Pattern Type 1 Segmental Darier Disease.

Acta dermatovenerologica Croatica : ADC
2023

Line-field confocal optical coherence tomography of Darier's disease: A case series with histopathological correlation.

Journal of the European Academy of Dermatology and Venereology : JEADV
2023

Kaposi varicelliform eruption due to disseminated herpes simplex in a patient with known Darier disease.

The American journal of the medical sciences
2023

Increased Hemichannel Activity Displayed by a Connexin43 Mutation Causing a Familial Connexinopathy Exhibiting Hypotrichosis with Follicular Keratosis and Hyperostosis.

International journal of molecular sciences
2023

Combination of Naltrexone and Isotretinoin for the Treatment of Darier Disease.

Cureus
2023

COVID-19 infection- and vaccination-related exacerbation of Darier's disease in a single patient.

The Journal of dermatology
2023

Dermoscopy 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 : JEADV
2023

Interleukin-17A immune pattern across genetic acantholytic and blistering disorders.

Clinical and experimental dermatology
2023

A rare case of type I segmental comedonal and hypertrophic Darier's disease (DD).

International journal of dermatology
2023

Acral hemorrhagic Darier disease: A case report of a rare presentation and literature review.

JAAD case reports
2022

Dermatological manifestations, management, and care in RASopathies.

American journal of medical genetics. Part C, Seminars in medical genetics
2023

Multiple papules on the hands and limbs in an 18-year-old male.

Pediatric dermatology
2023

Keratosis follicularis spinulosa decalvans in a woman with XY karyotype.

International journal of dermatology
2022

Subcellular 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 : JDDG
2022

Refractory facial Darier's disease treated with daylight photodynamic therapy.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
2022

Late onset Darier's disease in a genetically predisposed individual: a case report.

The Pan African medical journal
2023

Anti-desmoglein 1 antibody-positive mother and antibody-negative child with Darier's disease.

The Journal of dermatology
2022

Linear Darier disease after COVID-19 infection.

JAAD case reports
2022

Roger Money-Kyrle's 1934 paper on war: the context and personal background.

The International journal of psycho-analysis
2022

Retinoid-induced skeletal hyperostosis in disorders of keratinization.

Clinical and experimental dermatology
2022

Keratosis Pilaris Treatment: Evidence from Intervention Studies.

Skinmed
2023

Acrokeratosis verruciformis of Hopf: Dermoscopic approach in lighter phototypes.

Journal of the European Academy of Dermatology and Venereology : JEADV
2022

Infected thoracic aortic graft in a woman with Darier disease: a case report.

European heart journal. Case reports
2022

Case report: Grönblad-Strandberg syndrome.

Romanian journal of ophthalmology
2022

Clinical 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.]
2022

Darier Disease with Psoriasis.

Medicina (Kaunas, Lithuania)
2022

Darier disease: the use of dermoscopy in monitoring acitretin treatment.

Anais brasileiros de dermatologia
2023

Two Cases of Darier Disease Efficiently Treated With Combination of Oral Retinoids and Diclofenac Sodium 3% Gel.

Actas dermo-sifiliograficas
2022

Clinical and Histopathological Findings in a Patient of Darier-White Disease with Acrokertasosis Verruciformis of Hopf.

Case reports in dermatological medicine
2022

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

Experimental dermatology
2022

Acrokeratosis verruciformis of Hopf: dermoscopy approach in dark skin patients.

Journal of the European Academy of Dermatology and Venereology : JEADV
2022

Comparative 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 dermatology
2022

Darier disease successfully treated with conventional photodynamic therapy.

Journal of the European Academy of Dermatology and Venereology : JEADV
2022

Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation.

Genes
2022

On Darier Disease: A Case Series of 20 Patients and Review of the Literature.

Actas dermo-sifiliograficas
2022

Algorithm proposal for hair transplantation in fibrosing alopecia pattern distributidon.

Journal of cosmetic dermatology
2022

Keratosis pilaris and filaggrin loss-of-function mutations in patients with atopic dermatitis - Results of a Finnish cross-sectional study.

The Journal of dermatology
2022

Treatment of keratosis pilaris rubra with 577-nm pro-yellow laser.

Journal of cosmetic dermatology
2022

Keratosis Pilaris in an Ovarian Cancer Patient Treated with Bevacizumab and Doxorubicin.

Skinmed
2022

Dermatological and genetic data in tuberous sclerosis: A prospective single-center study of 38 patients.

Annales de dermatologie et de venereologie
2022

Keratosis follicularis spinulosa decalvans-like cicatricial alopecia in a patient with cardiofaciocutaneous syndrome.

Clinical and experimental dermatology
2022

Darier disease successfully treated with a topical agent containing vitamin A (retinyl palmitate), vitamin E, and urea.

The Journal of dermatology
2022

A case of segmental form of type 1 mosaic Darier's disease.

Acta dermatovenerologica Alpina, Pannonica, et Adriatica
2022

Whole-transcriptome sequencing identifies postzygotic ATP2A2 mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late-onset segmental Darier disease.

Experimental dermatology
2022

Persistent perianal "warts".

JAAD case reports
2022

Keratosis pilaris rubra successfully treated with topical sirolimus: Report of a case and review of the literature.

Pediatric dermatology
2022

Follicular keratosis of the face in pediatric patients of color.

Pediatric dermatology
2022

Clinicopathological correlation of transient acantholytic dermatosis: A case report.

Experimental and therapeutic medicine
2022

Not just acne or keratosis pilaris-like eruption: A case of trichodysplasia-associated polyomavirus in a child with lymphoma.

Pediatric blood &amp; cancer
2022

Colonic Chicken Skin Mucosa Surrounding Colon Polyps Is an Endoscopic Predictive Marker for Colonic Neoplastic Polyps.

Gut and liver
2022

Noonan Syndrome Presenting with Stunted Growth: A Case Report.

Mymensingh medical journal : MMJ
2022

Keratosis pilaris in collagen type VI-related disorders.

Pediatric dermatology
2021

[Established Genital and Extragenital Lichen Sclerosus:A Clinicopathological Analysis].

Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae
Ver todos os 333 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Doença de Darier.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Doença de Darier

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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.

  1. Expanding the spectrum of Darier Disease variants: 13 novel ATP2A2 genetic variations discovered in an Italian retrospective analysis.
    Gene· 2026· PMID 41747876mais citado
  2. Acantholytic disorders: Update on pathophysiology, diagnosis, and management.
    Journal of the American Academy of Dermatology· 2026· PMID 41730429mais citado
  3. Vitamins and the skin: Vitamin A and retinoids in dermatology.
    Clinics in dermatology· 2026· PMID 41692081mais citado
  4. Interleukin (IL)-17A Inhibitor as a Treatment for Darier Disease in the Pediatric Population.
    Cureus· 2026· PMID 41646610mais citado
  5. Paediatric-Onset Folliculitis Decalvans and Lichen Planopilaris Phenotypic Spectrum: Is It a Different Disease?
    Experimental dermatology· 2026· PMID 41496469mais citado
  6. Dermoscopic Features of Follicular Dermatoses: A Cross-Sectional Study.
    Dermatol Pract Concept· 2026· PMID 41912226recente
  7. Combined use of isotretinoin and secukinumab in pediatric Darier disease: a sustained clinical response.
    Ital J Dermatol Venerol· 2026· PMID 41838480recente
  8. Transient responses to biologic therapy in Darier disease: consider the role of dysbiosis-driven inflammation.
    J Eur Acad Dermatol Venereol· 2026· PMID 41738465recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:218(Orphanet)
  2. OMIM OMIM:124200(OMIM)
  3. MONDO:0007417(MONDO)
  4. GARD:6243(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. 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

Doença de Darier
Compêndio · Raras BR

Doença de Darier

ORPHA:218 · MONDO:0007417
Prevalência
1-9 / 100 000
Herança
Autosomal dominant
CID-10
Q82.8 · Outras malformações congênitas especificadas da pele
CID-11
Ensaios
1 ativos
Início
Adolescent, Adult, Childhood
Prevalência
3.0 (United Kingdom)
MedGen
UMLS
C0022595
EuropePMC
Wikidata
Wikipedia
Papers 10a
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades