THOUGHTS: The user wants a translation of a medical description into Brazilian Portuguese. I need to ensure medical terms are correctly translated and that the flow is natural for the target language. I also need to make sure to respond *only* with the translation, no extra text or markdown. - "Elastosis perforans serpiginosa": This is a medical condition name. I should keep it as is, or use a common Portuguese translation if one exists. "Elastose perfurante serpiginosa" is the standard translation. - "is a unique perforating disorder": "é uma doença perfurante única" or "é uma condição perfurante singular". "Doença" is more common than "condição" in this context when describing a disorder. - "characterized by transepidermal elimination of elastic fibers": "caracterizada pela eliminação transepidérmica de fibras elásticas". This is a direct translation and correct. - "and distinctive clinical lesions": "e lesões clínicas distintas" or "e lesões clínicas características". "Distintas" or "características" both work well. "Distintas" is a bit closer to "distinctive". - "which are serpiginous in distribution": "que apresentam distribuição serpiginosa". "Serpiginosa" is the correct medical term. "Apresentam distribuição" sounds natural. - "and can be associated with specific diseases": "e podem estar associadas a doenças específicas". This is a direct and correct translation. Let's put it together: "Elastose perfurante serpiginosa é uma doença perfurante única, caracterizada pela eliminação transepidérmica de fibras elásticas e por lesões clínicas distintas, que apresentam distribuição serpiginosa e podem estar associadas a doenças específicas." I need to make sure to output *only* the translation.
Introdução
O que você precisa saber de cara
Visão geral
Sinais e sintomas
Os achados clínicos e dermatológicos descritos incluem lesão cutânea serpiginosa, lesão cutânea anular, placa cutânea, pápula eritematosa, pápula cor da pele e pápula hiperceratótica. Também podem ocorrer dermatite eritematosa com crostas, acantose epidérmica, nevo e cutis laxa.[1][2]
Além das alterações na pele, podem ser observadas anormalidade da face e morfologia anormal do pescoço. O padrão de herança autossômica dominante também é relatado entre as características fenotípicas da condição.[1][2]
Causas genéticas
Tratamentos citados na literatura
Na literatura científica biomédica foram mapeadas menções a substâncias e intervenções associadas ao termo da condição. Vale ressaltar que se tratam de termos minerados em publicações científicas e não constituem diretrizes terapêuticas ou recomendações de uso: penicilamina (6 publicações), nitrogênio (4 publicações), isotretinoína (3 publicações), esteroides (3 publicações), tazaroteno (3 publicações), acitretina (2 publicações), dióxido de carbono (2 publicações), cortisona (2 publicações), imiquimode (2 publicações) e trientina (2 publicações).[5]
Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.
A elastose perfurante serpiginosa é uma condição rara que afeta a pele, podendo iniciar seus sinais em qualquer idade. Ela provoca o aparecimento de pequenas elevações avermelhadas ou da cor da pele que se organizam em formato de anéis ou linhas sinuosas, frequentemente no pescoço ou rosto. A doença não possui protocolo clínico (PCDT) próprio no SUS nem medicamentos aprovados exclusivamente para ela, mas o acompanhamento médico ocorre nos serviços de dermatologia da rede pública.
THOUGHTS: The user wants a translation of a medical description into Brazilian Portuguese. I need to ensure medical terms are correctly translated and that the flow is natural for the target language. I also need to make sure to respond *only* with the translation, no extra text or markdown. - "Elastosis perforans serpiginosa": This is a medical condition name. I should keep it as is, or use a common Portuguese translation if one exists. "Elastose perfurante serpiginosa" is the standard translation. - "is a unique perforating disorder": "é uma doença perfurante única" or "é uma condição perfurante singular". "Doença" is more common than "condição" in this context when describing a disorder. - "characterized by transepidermal elimination of elastic fibers": "caracterizada pela eliminação transepidérmica de fibras elásticas". This is a direct translation and correct. - "and distinctive clinical lesions": "e lesões clínicas distintas" or "e lesões clínicas características". "Distintas" or "características" both work well. "Distintas" is a bit closer to "distinctive". - "which are serpiginous in distribution": "que apresentam distribuição serpiginosa". "Serpiginosa" is the correct medical term. "Apresentam distribuição" sounds natural. - "and can be associated with specific diseases": "e podem estar associadas a doenças específicas". This is a direct and correct translation. Let's put it together: "Elastose perfurante serpiginosa é uma doença perfurante única, caracterizada pela eliminação transepidérmica de fibras elásticas e por lesões clínicas distintas, que apresentam distribuição serpiginosa e podem estar associadas a doenças específicas." I need to make sure to output *only* the translation.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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
+ 6 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 13 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
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 — Elastose perfurante serpiginosa
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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Penicillamine-induced elastosis perforans serpiginosa.
Dermoscopy of Acquired Perforating Dermatoses: A Case Series and Review of the Literature.
Acquired perforating dermatoses (APD) represent a group of papulonodular skin disorders characterized by transepidermal elimination of dermal components, most frequently arising in patients with poorly controlled chronic systemic conditions such as diabetes mellitus (DM) and chronic renal failure (CRF). The four classical subtypes include acquired reactive perforating collagenosis (RPC), Kyrle's disease (KD), elastosis perforans serpiginosa (EPS), and perforating folliculitis (PF). Owing to their rarity and the often-complex comorbidities of affected individuals, accurate diagnosis of APD may be challenging. In this context, dermoscopy has emerged as a valuable noninvasive tool that enhances diagnostic accuracy and supports clinical decision-making. This study aimed to characterize the dermoscopic features of APD through a case series and subsequent literature review. We present clinical and dermoscopic findings from a case series of 10 patients with APD followed by a literature review of 17 published case reports and 2 case series. The predominant dermoscopic pattern comprised a central yellow-to-brown structureless area, a surrounding white rim or a broader white structureless area with or without scaling, and an outer erythematous area containing dotted or hairpin vessels. Variations in these features appeared to reflect different stages of lesion evolution. The findings reinforce dermoscopy as a useful adjunct for the recognition, characterization, and monitoring of APD, providing additional insights into disease progression and contributing to improved diagnostic accuracy and clinical management.
Coexisting elastosis perforans serpiginosa and acquired cutis laxa following long-term penicillamine in Wilson disease.
We report a rare case of coexisting elastosis perforans serpiginosa and acquired cutis laxa in a patient with Wilson's disease following prolonged penicillamine therapy. This represents two rare but important dermatologic complications of long-term chelation therapy that clinicians should be aware of, given the potential for underlying elastin disruption to also affect systemic tissues.
Elastosis Perforans Serpiginosa Is Not a Cutaneous Manifestation of Marfan Syndrome.
Elastosis perforans serpiginosa is a perforating dermatosis that morphologically presents as serpiginous, annular, or curved papules and plaques whose pathologic examination demonstrates the transepidermal elimination of elastic fibers. The perforating dermatosis can be idiopathic or induced by drug exposure: most commonly, D-penicillamine. Occasionally, elastosis perforans serpiginosa is associated with a connective tissue disease. Individuals with Marfan syndrome have a defect in the FBN1 gene, which produces fibrillin. The connective tissue disease can occur spontaneously or is usually inherited in an autosomal dominant manner. Major criteria for the diagnosis of Marfan syndrome include aortic root dilatation and ectopia lentis. Patients often have musculoskeletal abnormalities, other cardiovascular features, and/or other ocular manifestations. A common cutaneous manifestation of Marfan syndrome is striae distensae on the deltoid, pectoral, and/or thigh regions. Numerous textbooks and publications have stated that elastosis perforans serpiginosa is associated with Marfan syndrome. However, the bona fide coexistence of elastosis perforans serpiginosa and Marfan syndrome has only been documented in a 23-year-old woman. She not only had biopsy-confirmed elastosis perforans serpiginosa but also skeletal abnormalities (arachnodactyly, genu valgum, and kyphoscoliosis) and numerous eye findings of Marfan syndrome. An investigation using the medical search engine PubMed for "elastosis perforans serpiginosa and Marfan syndrome" does not yield any relevant citations. Therefore, to the best of my knowledge, the literature only contains the coincidental observation of elastosis perforans serpiginosa and Marfan syndrome in a single patient. In conclusion, elastosis perforans serpiginosa is not a cutaneous manifestation of Marfan syndrome.
Elastosis perforans serpiginosa in a child with Down syndrome.
Publicações recentes
Penicillamine-induced elastosis perforans serpiginosa.
Dermoscopy of Acquired Perforating Dermatoses: A Case Series and Review of the Literature.
Coexisting elastosis perforans serpiginosa and acquired cutis laxa following long-term penicillamine in Wilson disease.
Elastosis Perforans Serpiginosa Is Not a Cutaneous Manifestation of Marfan Syndrome.
Elastosis perforans serpiginosa in a child with Down syndrome.
📚 EuropePMC171 artigos no totalmostrando 66
Penicillamine-induced elastosis perforans serpiginosa.
Journal of the European Academy of Dermatology and Venereology : JEADVDermoscopy of Acquired Perforating Dermatoses: A Case Series and Review of the Literature.
Life (Basel, Switzerland)Coexisting elastosis perforans serpiginosa and acquired cutis laxa following long-term penicillamine in Wilson disease.
Skin health and diseaseElastosis Perforans Serpiginosa Is Not a Cutaneous Manifestation of Marfan Syndrome.
CureusElastosis perforans serpiginosa in a child with Down syndrome.
Archives of disease in childhoodClinical characteristics of elastosis perforans serpiginosa: A retrospective review.
Journal of the American Academy of DermatologyNew findings of dermoscopy and reflectance confocal microscopy for perforating pseudoxanthoma elasticum with elastosis perforans serpiginosa-like changes.
JAAD case reportsCabozantinib-associated acquired perforating dermatosis.
JAAD case reportsGrowing Periumbilical Plaque: A Case of Perforating Calcific Elastosis.
CutisRecalcitrant Reactive Perforating Collagenosis Successfully Treated with Dupilumab: A Case Report.
Clinical, cosmetic and investigational dermatologyPenicillamine-Induced Localised Cutis Laxa in a Patient with Wilson Disease: A Case Report.
Mediterranean journal of rheumatologySustained improvement of elastosis perforans serpiginosa after isotretinoin therapy.
JAAD case reportsKyrle disease: a case report and literature review.
European review for medical and pharmacological sciencesMiscellaneous annular diseases.
Clinics in dermatologyA Systematic Review of Case Reports of a Rare Dermatological Condition: Elastosis Perforans Serpiginosa.
CureusNeu entdeckte Genmutation beim Ehlers-Danlos-Syndrom mit Elastosis perforans serpiginosa.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGNewly detected gene mutation in Ehlers-Danlos syndrome with elastosis perforans serpiginosa.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGGeneralized scleroderma-like induration associated with D-penicillamine elastosis perforans serpiginosa in Wilson's disease.
International journal of dermatologyElastoma of the Orbit: A Case Report.
Ophthalmic plastic and reconstructive surgeryCommon Dermatologic Disorders in Down Syndrome: Systematic Review.
JMIR dermatologyPenicillamine-induced elastosis perforans serpiginosa and pseudo-pseudoxanthoma elasticum.
International journal of women's dermatologyTreatment of a perforating dermatosis with apremilast.
JAAD case reportsAcquired perforating dermatoses show increased levels of cutaneous advanced glycation end-products.
Clinical and experimental dermatologyThe dermatological aspects of hEDS in women.
International journal of women's dermatologyElastosis Perforans Serpiginosa: a D-penicillamine induced dermatoses in a patient with Wilson's disease.
Autopsy & case reportsTreatment of extensive elastosis perforans serpiginosa with acitretin in a man with Down syndrome.
International journal of dermatologyClinical practice guide for the treatment of perforating dermatosis.
The Journal of dermatologyA case of acquired disseminated elastosis perforans serpiginosa in a patient with HIV, hepatitis B and hepatitis C successfully treated with narrowband ultraviolet B therapy.
Clinical and experimental dermatologyA case of elastosis perforans serpiginosa associated with long-term treatment with penicillamine.
International journal of dermatologyElastosis perforans serpiginosa induced by d-penicillamine treated with cyclosporine and allopurinol.
Dermatologic therapyPulse Dye Laser Therapy Successful for Elastosis Perforans Serpiginosa.
Case reports in dermatological medicineSevere early-onset manifestations of pseudoxanthoma elasticum resulting from the cumulative effects of several deleterious mutations in ENPP1, ABCC6 and HBB: transient improvement in ectopic calcification with sodium thiosulfate.
The British journal of dermatologyPeriumbilical Papules in a Middle-aged Woman.
JAMA dermatologyArcuate pink plaques in a female with Down syndrome.
International journal of dermatologyElastosis perforans serpiginosa related to vascular Ehlers-Danlos syndrome.
Dermatology online journalD-penicillamine-induced pseudo-pseudoxanthoma elasticum and extensive elastosis perforans serpiginosa with excellent response to acitretin.
Annals of Saudi medicineCutaneous Elastic Tissue Anomalies.
The American Journal of dermatopathologyPerforating dermatosis associated with multikinase inhibitors: report of two cases, including one associated with lenvatinib.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGDermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGDermatologische Aspekte aus der S2k-Leitlinie zum Down-Syndrom im Kindes- und Jugendalter.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGKeratotic papules in an annular arrangement.
JAAD case reportsElastosis perforans serpiginosa: causes and associated disorders.
European journal of dermatology : EJDErythematous Papular Lesions on the Neck: A Quiz.
Acta dermato-venereologicaA case of paraneoplastic elastosis perforans serpiginosa associated with ovarian malignancy.
International journal of dermatologyIdiopathic elastosis perforans serpiginosa with satisfactory response after 5-ALA photodynamic therapy.
Photodiagnosis and photodynamic therapyHidradenitis Suppurativa and Concomitant Down Syndrome: Literature Review of Other Associated Mucocutaneous Manifestations in Adults.
SkinmedD-penicillamine-induced Elastosis Perforans Serpiginosa.
Chinese medical journalTreatment of Elastosis Perforans Serpiginosa Using a Fractional Carbon Dioxide Laser.
JAMA dermatologyNo rubbing, no elastosis perforans serpiginosa.
The Journal of dermatologyElastosis perforans serpiginosa in a patient with Wilson's disease.
The lancet. Gastroenterology & hepatologyNon-Healing Perianal Ulcers in a Healthy Elderly Male: An Unusual Case of Perforating Dermatosis.
Journal of cutaneous medicine and surgeryAcquired perforating dermatosis in a patient with chronic renal failure.
Anais brasileiros de dermatologiaGiant variant of acquired perforating dermatosis in a renal dialysis patient.
JAAD case reportsAnnular Plaques With Skin Atrophy in a Young Patient.
JAMA dermatologyElastosis perforans serpiginosa: a review of the literature and our own experience.
Postepy dermatologii i alergologiiPerforating pseudoxanthoma elasticum with secondary elastosis perforans serpiginosa-like changes: dermoscopy, confocal microscopy and histopathological correlation.
Journal of cutaneous pathologyDermoscopy and direct immunofluorescence findings of elastosis perforans serpiginosa.
Clinical and experimental dermatology[Elastosis Perforans Serpiginosa and Wilson Disease: A Rare but Predictable Consequence of Long-term Therapy with D-Penicillamine].
Acta medica portuguesaTwo cases of D-penicillamine-induced elastosis perforans serpiginosa.
Indian journal of dermatology, venereology and leprologyElastosis perforans serpiginosa in a case of pseudoxanthoma elasticum: A rare association.
Indian dermatology online journalElastophagocytosis and Elastolysis in Leprosy.
Indian journal of leprosyDrug-induced elastosis perforans serpiginosa.
BMJ case reportsAnnular keratotic papules on the extremities.
Journal of the American Academy of DermatologyFifty shades of yellow: a review of the xanthodermatoses.
International journal of dermatologyScaly Erythematous Patches in a Patient With Down Syndrome.
Actas dermo-sifiliograficasDermoscopy of elastosis perforans serpiginosa: A useful tool to distinguish it from granuloma annulare.
Journal of the American Academy of DermatologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
É uma doença dermatológica rara, registrada sob o código CID-10 L87.2 e ORPHA:79148. Caracteriza-se pela formação de pequenas lesões endurecidas dispostas em trajetos anulares ou sinuosos na pele.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
6 fontes citadas no texto · 5 publicações do grafo RarasNet (PubMed) · 4 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
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.
Citar este verbete
Raras. (2026). Elastose perfurante serpiginosa. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/elastose-perfurante-serpiginosa
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Elastose perfurante serpiginosa
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Genética mendeliana
- fonte: OMIM
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
