O Lúpus Eritematoso Cutâneo Crônico (CCLE) é um tipo de lúpus que afeta a pele de forma persistente. Ele faz parte de um grupo maior de condições conhecido como Lúpus Eritematoso Cutâneo (CLE), e inclui cinco formas diferentes: lúpus eritematoso discoide (DLE); lúpus tipo frieira (também conhecido como lúpus pérnio); lúpus eritematoso hipertrófico ou verrucoso (que causa lesões espessas ou parecidas com verrugas); lúpus eritematoso tumidus (que forma inchaços na pele); e lúpus eritematoso paniculite (que atinge a camada de gordura embaixo da pele).
Introdução
O que você precisa saber de cara
O Lúpus Eritematoso Cutâneo Crônico (CCLE) é um tipo de lúpus que afeta a pele de forma persistente. Ele faz parte de um grupo maior de condições conhecido como Lúpus Eritematoso Cutâneo (CLE), e inclui cinco formas diferentes: lúpus eritematoso discoide (DLE); lúpus tipo frieira (também conhecido como lúpus pérnio); lúpus eritematoso hipertrófico ou verrucoso (que causa lesões espessas ou parecidas com verrugas); lúpus eritematoso tumidus (que forma inchaços na pele); e lúpus eritematoso paniculite (que atinge a camada de gordura embaixo da pele).
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 19 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 42 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
3 genes identificados com associação a esta condição.
Major cellular 3'-to-5' DNA exonuclease which digests single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA) with mismatched 3' termini (PubMed:10391904, PubMed:10393201, PubMed:17293595). Prevents cell-intrinsic initiation of autoimmunity (PubMed:10391904, PubMed:10393201, PubMed:17293595). Acts by metabolizing DNA fragments from endogenous retroelements, including L1, LTR and SINE elements (PubMed:10391904, PubMed:10393201, PubMed:17293595). Plays a key role in degradation of DNA fragment
NucleusCytoplasm, cytosolEndoplasmic reticulum membrane
Aicardi-Goutieres syndrome 1
A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.
Protein that acts both as a host restriction factor involved in defense response to virus and as a regulator of DNA end resection at stalled replication forks (PubMed:19525956, PubMed:21613998, PubMed:21720370, PubMed:22056990, PubMed:23601106, PubMed:23602554, PubMed:24336198, PubMed:26294762, PubMed:26431200, PubMed:28229507, PubMed:28834754, PubMed:29670289). Has deoxynucleoside triphosphate (dNTPase) activity, which is required to restrict infection by viruses, such as HIV-1: dNTPase activit
NucleusChromosome
Aicardi-Goutieres syndrome 5
A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.
Facilitator of innate immune signaling that acts as a sensor of cytosolic DNA from bacteria and viruses and promotes the production of type I interferon (IFN-alpha and IFN-beta) (PubMed:18724357, PubMed:18818105, PubMed:19433799, PubMed:19776740, PubMed:23027953, PubMed:23747010, PubMed:23910378, PubMed:27801882, PubMed:29973723, PubMed:30842659, PubMed:35045565, PubMed:35388221, PubMed:36808561, PubMed:37832545, PubMed:25704810, PubMed:39255680). Innate immune response is triggered in response
Endoplasmic reticulum membraneCytoplasm, perinuclear regionEndoplasmic reticulum-Golgi intermediate compartment membraneGolgi apparatus membraneCytoplasmic vesicle, autophagosome membraneMitochondrion outer membraneCell membrane
STING-associated vasculopathy, infantile-onset
An autoinflammatory disease characterized by early-onset systemic inflammation and cutaneous vasculopathy, resulting in severe skin lesions. Violaceous, scaling lesions of fingers, toes, nose, cheeks and ears progress to acral necrosis in most of the patients. Some patients have severe interstitial lung disease.
Variantes genéticas (ClinVar)
1,607 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
11 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)
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Publicações mais relevantes
Prevalence and Risk Factors of Systemic Lupus Erythematosus in Patients With Chronic Cutaneous Lupus: A Bicentric Study Employing Three Classification Criteria.
Chronic cutaneous lupus erythematosus (CCLE) is the most common form of cutaneous lupus erythematosus, accounting for about 80% of cases. While patients with CCLE can develop systemic lupus erythematosus (SLE), the prevalence and risk factors of this association remain poorly studied, especially in North African populations. We conducted a bicentric study including all patients with histologically confirmed CCLE in two tertiary referral hospitals in Tunis between 2013 and 2023. SLE was classified using three criteria sets: ACR 1997, SLICC 2012, and ACR/EULAR 2019. Univariate and multivariate analyses were performed. Ninety-five patients with CCLE (median age 48 years, 75% female) were included. The prevalence of SLE varied significantly depending on the classification criteria used: 24% with ACR 1997, 32% with SLICC 2012, and 21% with ACR/EULAR 2019. Independent risk factors for SLE included arthralgias consistently across all classification criteria. Other risk factors for SLE differed among classification systems. For instance, asthenia and elevated ESR were independent risk factors under the ACR 1997 criteria, while female sex and extensive skin involvement were unique to the SLICC 2012 criteria. This study, the largest in North Africa aiming to identify the prevalence and risk factors of SLE among CCLE patients, showed significant variability depending on the used classification criteria. Arthralgias represented an independent risk factor for SLE in CCLE patients. The findings of this study were used to develop a diagnostic algorithm to assist clinicians.
Palmar Cutaneous Erythematous Macules: A Case Report of an Atypical Presentation of Chilblain Lupus Erythematosus.
Systemic lupus erythematosus (SLE) manifests with a broad spectrum of cutaneous manifestations, including chilblain lupus erythematosus (CHLE), which typically presents as cold-induced, painful acral lesions with specific dermatoscopic and histopathologic features. We describe an unusual case of a 32-year-old woman with established SLE and stage IV lupus nephritis who presented with a five-year history of asymptomatic, recurrent erythematous macules on the palms. The patient reported no cold sensitivity, pain, or Raynaud's phenomenon, which are hallmark features of classic CHLE. Physical examination revealed irregularly shaped pink macules and patches on the volar aspect of the fingers and thumb base and dorsal hands, sparing the palms. Dermoscopy showed well-demarcated, non-scaling pink macules with nonspecific white dots and sparing of palmar skin lines. Histopathological analysis demonstrated superficial and deep perivascular lymphocytic infiltrates with increased dermal mucin. Direct immunofluorescence revealed granular IgM and IgG deposits at the dermoepidermal junction, supporting a lupus-related process. Although the patient met the histopathologic and minor clinical criteria for CHLE, the absence of cold triggers and pain suggests an atypical presentation of CHLE or a distinct variant of lupus-associated palmar macules. Differential diagnoses, including dermatomyositis and small-vessel vasculitis, were excluded through clinical and laboratory evaluations. This case highlights the clinical variability of cutaneous lupus and the diagnostic challenges posed by palmar lesions that do not strictly adhere to established diagnostic criteria for CHLE. Lupus erythematosus is a multisystem disorder that predominantly affects the skin. There are many types of lupus, including systemic lupus erythematosus (SLE), drug-induced lupus erythematosus, neonatal lupus erythematosus, and cutaneous lupus erythematosus. The most common types of cutaneous lupus erythematosus include acute cutaneous lupus erythematosus, subacute cutaneous lupus erythematosus, and chronic cutaneous lupus erythematosus; discoid lupus erythematosus is a subtype of chronic cutaneous lupus erythematosus. Dr James Gilliam described the most commonly used classification of cutaneous lesions in lupus erythematosus. He distinguished lesions as either specific or nonspecific, based on the presence of interface dermatitis on histopathologic examination. Within the category of specific cutaneous lesions, he subdivided these into acute cutaneous lupus erythematosus, subacute cutaneous lupus erythematosus, and chronic cutaneous erythematosus. Discoid lupus erythematosus is the most common subset of chronic cutaneous lupus erythematosus. Patients may or may not report photosensitivity, but lesions are frequently photodistributed and often exhibit secondary atrophy or scarring. Most patients with discoid lupus erythematosus do not have significant systemic disease. Discoid lupus erythematosus can also occur as a manifestation of SLE in approximately 20% of patients. Other less common variants of chronic cutaneous lupus erythematosus include hypertrophic lupus erythematosus, tumid lupus erythematosus, lupus erythematosus panniculitis (also known as lupus profundus), chilblain lupus erythematosus, oral discoid lupus erythematosus, and discoid lupus erythematosus lesions on the palms and soles.
Generalized verrucous discoid lupus erythematosus.
Chronic Cutaneous Lupus Erythematosus Presenting as Acne Scars: A Case Report.
Chronic cutaneous lupus erythematosus (CCLE) is a subtype of lupus erythematosus that primarily affects sun-exposed areas, resulting in atrophic scarring and dyspigmentation. While its classic presentation involves erythematous, scaly plaques with follicular plugging, rare clinical variants have been described. Among these, acneiform or comedonal CCLE can closely mimic acne vulgaris, leading to delayed diagnosis and inappropriate management. A 49-year-old woman presented with multiple facial scars after more than 20 years of unsuccessful acne treatments. Physical examination revealed deep atrophic scars and pseudocomedones on the cheeks and chin, along with erythematous, scaly plaques on the ear, and an alopecic patch on the scalp. A skin biopsy showed a picture of CCLE. A diagnosis of CCLE presenting as acne scar was concluded. The patient responded well to hydroxychloroquine followed by successful surgical scar revision. Acneiform CCLE is a rare and often misdiagnosed variant. Dermatologists should consider it in patients with treatment-resistant "acne," particularly when lesions are scarring or involve sun-exposed sites, as early diagnosis and appropriate therapy can prevent irreversible disfigurement.
Efficacy of Belimumab on Different Joint and Skin Manifestations of Systemic Lupus Erythematosus: Real-Life Data from a New Multicentric, Nationwide Italian Cohort (BeRLiSS-JS 2.0).
To evaluate the effectiveness of belimumab in different joint and skin phenotypes of systemic lupus erythematosus (SLE). The BeRLiSS-JS 2.0 is a decade-long observational study including adult SLE patients from 14 Italian Centers treated with belimumab (intravenous/subcutaneous) stratified by articular (nondeforming nonerosive arthritis -NDNE-, Jaccoud's arthropathy, Rhupus) and cutaneous phenotypes (acute -ACLE-, subacute -SCLE-, and chronic cutaneous lupus erythematosus -CCLE-, and nonspecific manifestations). Outcome variables measured every 6 months up to 36 months included Disease Activity Score-28 joints (DAS28) and Cutaneous Lupus Erythematosus Disease Area and Severity Index (CLASI) scores, remission rates (DAS28<2.6; CLASI-A=0), and prednisone intake (mg/day). Of 443 patients, 221 (49.9%) had NDNE, 30 (6.8%) Jaccoud's arthropathy, 21 (4.7%) rhupus, 112 (25.3%) had ACLE, 54 (12.2%) SCLE, and 18 (4.1%) CCLE. At 6 months a significant decrease of DAS28 was observed in NDNE (p<0.001) and by CLASI-A in ACLE and SCLE (both p<0.001). Non-specific cutaneous manifestations did not improve significantly. CLASI-D scores remained stable over 36 months. Remission rates were higher in NDNE and ACLE patients (at 6 months: NDNE 59.6%, Jaccoud's 18.8%, rhupus 30.3% - p=0.002; at 18 months: ACLE 75.9%, SCLE 56.4%, CCLE 33.3% - p=0.018). Daily prednisone dosage decreased in all organ-specific phenotypes, but more pronouncedly in patients with NDNE, ACLE, and SCLE. Higher baseline CLASI-A and DAS28 and CLASI-D were associated with lower remission rates. Treatment with belimumab was associated with reduced disease activity and increased remission especially in NDNE and ACLE patients. Glucocorticoid-sparing effect was also found. Belimumab is known to be an effective treatment for systemic lupus erythematosus (SLE), achieving the highest level of recommendation for non-responders to hydroxychloroquine/immunosuppressive agents (1a/A), while reaching a level B for active cutaneous involvement (1a/B) in the latest EULAR recommendations. On the other hand, belimumab effectiveness across different joint and skin phenotypes of SLE had not been thoroughly evaluated. This study was necessary to understand how belimumab performs in specific SLE phenotypes, such as nondeforming nonerosive arthritis (NDNE), Jaccoud’s arthropathy, rhupus, and various cutaneous manifestations (acute, subacute, chronic, and nonspecific) by using disease specific and validated clinimetric measures, such as DAS28 and CLASI. Belimumab significantly decreased disease activity and improved remission rates especially in NDNE and acute cutaneous lupus erythematosus (ACLE) patients while also highlighting a glucocorticoid-sparing effect particularly in NDNE, ACLE, and subacute cutaneous lupus erythematosus (SCLE) patients. Therefore, these findings suggest that belimumab could be more beneficial for patients with NDNE and ACLE than other phenotypes, potentially guiding more personalized treatment approaches in clinical practice.
Publicações recentes
A Unique Case of Lupus Erythematosus Profundus Presenting With Localized Scarring Alopecia and Perioral Swelling in a Pediatric Patient.
Cutaneous Squamous Cell Carcinoma Arising in Discoid Lupus Erythematosus: A Systematic Review and Meta-analysis.
Prevalence and Risk Factors of Systemic Lupus Erythematosus in Patients With Chronic Cutaneous Lupus: A Bicentric Study Employing Three Classification Criteria.
Palmar Cutaneous Erythematous Macules: A Case Report of an Atypical Presentation of Chilblain Lupus Erythematosus.
Discoid Lupus Erythematosus.
📚 EuropePMC81 artigos no totalmostrando 122
Prevalence and Risk Factors of Systemic Lupus Erythematosus in Patients With Chronic Cutaneous Lupus: A Bicentric Study Employing Three Classification Criteria.
International journal of dermatologyPalmar Cutaneous Erythematous Macules: A Case Report of an Atypical Presentation of Chilblain Lupus Erythematosus.
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Biologics : targets & therapyKoebner Phenomenon Induced by Eyeglasses in a Patient With Discoid Lupus Erythematosus.
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JAAD case reportsA secondary discoid lupus erythematosus induced by scald of edible oil: An illustration of Koebner phenomenon.
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JAAD case reportsSpectrum of cutaneous lupus erythematosus in South Africans with systemic lupus erythematosus.
LupusAn Unusual Morphological and Distribution Pattern of Chronic Cutaneous Lupus Erythematosus.
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Frontiers in immunologyChronic Cutaneous Lupus Erythematosus: Depression Burden and Associated Factors.
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The Australasian journal of dermatologySkin signs in juvenile- and adult-onset systemic lupus erythematosus: clues to different systemic involvement.
LupusChronic cutaneous lupus erythematosus and topical clindamycin.
BMJ case reportsFogo selvagem: endemic pemphigus foliaceus.
Anais brasileiros de dermatologiaLupus panniculitis: Clinicopathological features of a series of 12 patients.
Medicina clinicaPeriorbital erythema and swelling as a presenting sign of lupus erythematosus in tertiary referral centers and literature review.
LupusA comprehensive review of immune-mediated dermatopathology in systemic lupus erythematosus.
Journal of autoimmunityDisease severity and prophylactic measures in patients with cutaneous lupus erythematosus: results of a worldwide questionnaire-based study.
Postepy dermatologii i alergologiiCXCL13 is an activity marker for systemic, but not cutaneous lupus erythematosus: a longitudinal cohort study.
Archives of dermatological researchCoexistence of chronic cutaneous lupus erythematosus and frontal fibrosing alopecia.
Anais brasileiros de dermatologiaChronic Cutaneous Lupus Erythematosus in a Blaschkoid Pattern over Face.
Indian journal of dermatologyRacial Disparities in the Incidence of Primary Chronic Cutaneous Lupus Erythematosus in the Southeastern US: The Georgia Lupus Registry.
Arthritis care & researchBizarre appearance of chronic cutaneous lupus erythematosus of face mimicking factitial dermatitis.
Journal of the European Academy of Dermatology and Venereology : JEADVThe involvement of galectin-3 in skin injury in systemic lupus erythematosus patients.
LupusChronic cutaneous lupus erythematosus revealed by unilateral eyelid oedema.
European journal of dermatology : EJDCutaneous Lupus: A Brief Review of Old and New Medical Therapeutic Options.
The journal of investigative dermatology. Symposium proceedingsChronic cutaneous lupus erythematosus presenting as atypical acneiform and comedonal plaque: case report and literature review.
LupusHistologic features of chronic cutaneous lupus erythematosus of the scalp using horizontal sectioning: Emphasis on follicular findings.
Journal of the American Academy of DermatologyPigmented macular variant of chronic cutaneous lupus erythematosus: an under-recognized subset in dark skin.
Clinical and experimental dermatologyLupus profundus limited to a site of trauma: Case report and review of the literature.
International journal of women's dermatologyThe Increased Expression of Toll-Like Receptor 4 in Renal and Skin Lesions in Lupus Erythematosus.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry SocietyLupus erythematosus tumidus of the scalp masquerading as alopecia areata.
CutisLupus tumidus: a report of two cases.
Anais brasileiros de dermatologia[Systemic lupus erythematosus : Unusual cutaneous manifestations].
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Journal of the American Academy of DermatologyClinical and microscopic features of generalized discoid lupus erythematosus in dogs (10 cases).
Veterinary dermatologyCutaneous sarcoidosis masquerading as chronic cutaneous lupus erythematosus - case report.
BMC dermatologyLinear cutaneous lupus erythematosus following the lines of Blaschko - Case report.
Anais brasileiros de dermatologiaMethimazole-induced chronic cutaneous lupus erythematosus.
Journal of the European Academy of Dermatology and Venereology : JEADVCD123 immunohistochemistry for plasmacytoid dendritic cells is useful in the diagnosis of scarring alopecia.
Journal of cutaneous pathologyLupus Panniculitis as an Initial Manifestation of Systemic Lupus Erythematosus: A Case Report.
MedicineUnilateral unique Lupus tumidus: pathogenetic mystery and diagnostic problem.
Wiener medizinische Wochenschrift (1946)Blisters and Loss of Epidermis in Patients With Lupus Erythematosus: A Clinicopathological Study of 22 Patients.
MedicineDifferentiation of Jessner's Lymphocytic Infiltration of the Skin from Various Chronic Cutaneous Lupus Erythematosus Subtypes by Quantitative Computer-Aided Image Analysis.
Dermatology (Basel, Switzerland)Apoptosis in chronic cutaneous lupus erythematosus, discoid lupus, and lupus profundus.
International journal of clinical and experimental pathologyGenome-wide transcriptional profiling data from skin of chronic cutaneous lupus erythematosus (CCLE) patients.
Data in briefGenome-wide transcriptional profiling data from chronic cutaneous lupus erythematosus (CCLE) peripheral blood.
Data in briefTreatment of Scarring Alopecia in Discoid Variant of Chronic Cutaneous Lupus Erythematosus With Tacrolimus Lotion, 0.3.
JAMA dermatologyCutaneous lupus erythematosus in skin of color.
Journal of drugs in dermatology : JDDMagnetic resonance imaging findings are useful for evaluating the three-dimensional development and follow-up of linear lupus erythematosus profundus.
LupusBrief report: responses to rituximab suggest B cell-independent inflammation in cutaneous systemic lupus erythematosus.
Arthritis & rheumatology (Hoboken, N.J.)Associações
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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.
- Prevalence and Risk Factors of Systemic Lupus Erythematosus in Patients With Chronic Cutaneous Lupus: A Bicentric Study Employing Three Classification Criteria.
- Palmar Cutaneous Erythematous Macules: A Case Report of an Atypical Presentation of Chilblain Lupus Erythematosus.
- Generalized verrucous discoid lupus erythematosus.Journal of the European Academy of Dermatology and Venereology : JEADV· 2026· PMID 41575073mais citado
- Chronic Cutaneous Lupus Erythematosus Presenting as Acne Scars: A Case Report.
- Efficacy of Belimumab on Different Joint and Skin Manifestations of Systemic Lupus Erythematosus: Real-Life Data from a New Multicentric, Nationwide Italian Cohort (BeRLiSS-JS 2.0).
- A Unique Case of Lupus Erythematosus Profundus Presenting With Localized Scarring Alopecia and Perioral Swelling in a Pediatric Patient.
- Cutaneous Squamous Cell Carcinoma Arising in Discoid Lupus Erythematosus: A Systematic Review and Meta-analysis.
- Discoid Lupus Erythematosus.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:163531(Orphanet)
- MONDO:0015574(MONDO)
- Lupus Eritematoso Sistemico(PCDT · Ministério da Saúde)
- GARD:20043(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55785567(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
