A amiloidose cutânea é um grupo de doenças de pele que, ao serem examinadas ao microscópio, mostram um acúmulo de depósitos de uma substância chamada amiloide fora das células da derme (a camada intermediária da pele). Entre as formas raras estão o líquen amiloide, o distúrbio pigmentar reticulado ligado ao cromossomo X, a amiloidose nodular cutânea localizada primária e a amiloidose macular.
Introdução
O que você precisa saber de cara
A amiloidose cutânea é um grupo de doenças de pele que, ao serem examinadas ao microscópio, mostram um acúmulo de depósitos de uma substância chamada amiloide fora das células da derme (a camada intermediária da pele). Entre as formas raras estão o líquen amiloide, o distúrbio pigmentar reticulado ligado ao cromossomo X, a amiloidose nodular cutânea localizada primária e a amiloidose macular.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 10 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. Padrão de herança: Autosomal dominant, Not applicable.
Associates with OSMR to form the interleukin-31 receptor which activates STAT3 and to a lower extent STAT1 and STAT5 (PubMed:11877449, PubMed:14504285, PubMed:15194700, PubMed:15627637). May function in skin immunity (PubMed:15184896). Mediates IL31-induced itch, probably in a manner dependent on cation channels TRPA1 and TRPV1 (By similarity). Positively regulates numbers and cycling status of immature subsets of myeloid progenitor cells in bone marrow in vivo and enhances myeloid progenitor ce
Cell membranePresynaptic cell membraneCell projection, axon
Amyloidosis, primary localized cutaneous, 2
A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins.
Associates with IL31RA to form the IL31 receptor. Binds IL31 to activate STAT3 and possibly STAT1 and STAT5. Capable of transducing OSM-specific signaling events
Membrane
Amyloidosis, primary localized cutaneous, 1
A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins.
Could be a melanogenic enzyme
Cell membraneMelanosome membraneEarly endosome membrane
Variantes genéticas (ClinVar)
96 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Amiloidose cutânea
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
5 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Symptomatic Vulvar Primary Cutaneous Amyloidosis Associated With Low-Risk HPV: A Case Report.
Primary localized cutaneous amyloidosis (PCLA) of the vulva is an infrequent diagnosis. Its clinical presentation may mimic neoplastic or inflammatory lesions and could even be associated with human papillomavirus (HPV) of low or high oncogenic risk, making accurate diagnosis and exclusion of systemic involvement essential. A 73-year-old woman presented with a flat, macular, solitary vulvar lesion. Histologic evaluation revealed amyloid deposits in the papillary dermis, confirmed by Congo red staining and apple-green birefringence. HPV genotyping identified type 40, a low-risk genotype, with no evidence of intraepithelial neoplasia. The diagnosis of systemic amyloidosis was ruled out by a multidisciplinary team evaluation. A complete local excision was performed. After 33 months of follow-up, the patient remains in remission. This case highlights the importance of including PCLA in the differential diagnosis of vulvar lesions and suggests a potential role of HPV as a possible trigger for vulvar localized amyloidogenesis.
Cutaneous Amyloidosis: An Updated Approach Focusing on Macular Amyloidosis.
Amyloidosis is formed following deposition of protein aggregates and is classified by systemic or cutaneous deposition. These aggregates can be distributed in different organs such as the heart, liver, lungs, kidneys, and skin. Primary cutaneous amyloidosis has been classified into three groups: macular, lichen, and nodular, the former two being one often overlapping process, and the latter a localized plasma dyscrasia with a small risk of representing a systemic disease. Historically, cutaneous amyloidosis has been misdiagnosed, and most treatment regimens have been ineffective or only provide supportive management, such as decreasing pruritus. The current standard of care, high-potency corticosteroids, can provide symptomatic relief. Newer therapies may decrease amyloid deposition and progression of disease.
Dermatological Manifestations of Amyloid Light-Chain (AL) Amyloidosis: A Case Report Highlighting Early Diagnosis and Treatment.
This case report describes a 52-year-old man who presented with gradually progressive dark cutaneous discoloration over the upper trunk and periorbital region, accompanied by painless enlargement of the tongue, which initially interfered with speech and eating. Over the subsequent months, he experienced marked unintentional weight loss, persistent fatigue, and symptoms consistent with autonomic involvement, including postural dizziness and altered bowel habits. Clinical examination revealed waxy skin changes and macroglossia. Laboratory evaluation demonstrated a monoclonal light-chain abnormality, and additional testing identified abnormal serum protein bands and Bence-Jones protein in urine. Cross-sectional imaging showed hepatosplenomegaly without focal lesions, and biopsy of the abdominal fat pad confirmed amyloid deposition. Based on the constellation of clinical, laboratory, imaging, and histopathologic findings, a diagnosis of systemic amyloid light-chain (AL) amyloidosis was established. The patient was initiated on bortezomib and dexamethasone chemotherapy targeting abnormal light-chain production, following which he exhibited progressive improvement in dermatologic changes, reduction in tongue size, improved energy levels, and stabilization of autonomic symptoms. This case underscores an atypical dermatologic onset of systemic AL amyloidosis, in which skin and tongue abnormalities preceded other systemic manifestations, enabling timely diagnosis and intervention.
[Tapping with plum-blossom needle combined with sulfur ointment and local irradiation for primary cutaneous amyloidosis: a case report].
The paper reports one case of primary cutaneous amyloidosis (PCA) treated by tapping with plum-blossom needle combined with sulfur ointment and local irradiation. PCA in this case was manifested as generalized erythema, papules, plaques, lichenification, and severe pruritus. In treatment, tapping with plum-blossom needle was delivered at typical lesions to induce local congestion, redness, and minimal bleeding. After cleaned with sterile gauze for 10 s, 25% sulfur ointment was evenly applied, followed by local irradiation with a TDP lamp for 15 min. This session was repeated twice a week. In 1 month of treatment, the lesions turned flat and the skin was soft as the normal, with pigmentation and mild pruritus left. In 3 months of follow-up, no papules recurred, and mild pruritus presented occasionally. 报道1例采用梅花针吹烘疗法治疗原发性皮肤淀粉样变的情况。本例患者表现为泛发性红斑、丘疹、斑块，苔藓样变，有剧烈瘙痒。治疗选取皮损典型部位，使用梅花针叩刺，至皮损充血、发红、轻微渗血为度，用无菌纱布块轻按10 s，擦净渗血，继用25%硫乳膏均匀涂抹于皮疹处，配合特定电磁波治疗仪（TDP）局部照射15 min，每周2次。治疗1个月后皮疹变平，皮肤质地柔软近似正常皮肤，遗留色素沉着，瘙痒轻微；随访3个月，皮疹未见复发，偶有轻微瘙痒。.
Treatment of primary cutaneous amyloidosis with tofacitinib: preliminary observations from a single-arm clinical trial.
Primary cutaneous amyloidosis (PCA) lacks consensus-based therapeutic guidelines, with conventional modalities demonstrating suboptimal clinical responses. To assess the efficacy and safety profile of oral tofacitinib, a Janus kinase 1/3 inhibitor, in PCA management. This single-centre, open-label, single-arm prospective interventional study enrolled 20 patients with PCA receiving tofacitinib 5 mg twice daily. Demographic parameters, disease characteristics [measured using the pruritus numeric rating scale (p-NRS), Dermatology Life Quality Index (DLQI) and Lesion Severity (LS) scores], and adverse events were systematically recorded at baseline and weeks 2, 6 and 10 post-treatment. At week 10, significant reductions were observed across all endpoints: p-NRS from 6.9 (SD 2.9) to 0.4 (SD 0.6, P < 0.001); DLQI from 11.8 (SD 5.6) to 2.6 (SD 2.5, P < 0.001); and LS from 13.3 (SD 5.2) to 4.9 (SD 2.4, P < 0.001). Patients with lichen amyloidosis (8 of 15) and biphasic amyloidosis (3 of 3), but neither of the 2 patients with macular amyloidosis, achieved the primary efficacy threshold. Two treatment-emergent adverse events occurred; these were transient hepatobiliary enzyme elevations resolving with hepatoprotectants and one patient with a self-limiting upper respiratory infection. Tofacitinib demonstrates rapid antipruritic effects and sustained lesion clearance in PCA, with favourable tolerability. Study limitations, including the small sample size (n = 20), 10-week duration and uncontrolled design, which may limit generalizability, warrant phase III trials for validation.
Publicações recentes
Symptomatic Vulvar Primary Cutaneous Amyloidosis Associated With Low-Risk HPV: A Case Report.
Dermatological Manifestations of Amyloid Light-Chain (AL) Amyloidosis: A Case Report Highlighting Early Diagnosis and Treatment.
Cutaneous Amyloidosis: An Updated Approach Focusing on Macular Amyloidosis.
[Tapping with plum-blossom needle combined with sulfur ointment and local irradiation for primary cutaneous amyloidosis: a case report].
Treatment of primary cutaneous amyloidosis with tofacitinib: preliminary observations from a single-arm clinical trial.
📚 EuropePMC108 artigos no totalmostrando 74
Symptomatic Vulvar Primary Cutaneous Amyloidosis Associated With Low-Risk HPV: A Case Report.
Clinical case reportsDermatological Manifestations of Amyloid Light-Chain (AL) Amyloidosis: A Case Report Highlighting Early Diagnosis and Treatment.
CureusCutaneous Amyloidosis: An Updated Approach Focusing on Macular Amyloidosis.
Dermatology (Basel, Switzerland)[Tapping with plum-blossom needle combined with sulfur ointment and local irradiation for primary cutaneous amyloidosis: a case report].
Zhongguo zhen jiu = Chinese acupuncture & moxibustionTreatment of primary cutaneous amyloidosis with tofacitinib: preliminary observations from a single-arm clinical trial.
Clinical and experimental dermatologyFamilial Primary Cutaneous Amyloidosis Across Generations.
Indian dermatology online journalGeneralized lichen amyloidosis in a pregnant woman: Coincidence or association.
Obstetric medicine34βE12 is the Most Reliable Marker for Keratin-Derived Cutaneous Amyloid: A Comparative Study.
The American Journal of dermatopathologyDupilumab for treatment of primary cutaneous amyloidosis in adults: two case reports and literature review.
Frontiers in medicineThe evaluation of Congo red staining combined with fluorescence microscopy in the diagnosis of primary cutaneous amyloidosis.
The Journal of dermatologyCase report: Abrocitinib: a potential therapeutic option for lichen amyloidosis associated with atopic dermatitis.
Frontiers in immunology[Endogenous skin overloads].
Annales de pathologieDermoscopy of Amyloidosis Cutis Dyschromica.
Indian journal of dermatologyAmyloidosis Cutis Dyschromica: A Rare Subtype of Primary Cutaneous Amyloidosis with Dermoscopy.
Indian journal of dermatologyAmyloidoma: A Case Report of Remote Insulin-Derived Amyloidosis in the Setting of Insulin-Dependent Diabetes.
Cureus[Generalized Amyloid Lichen Associated with Primary Biliary Cholangitis: A Case Report].
Acta gastroenterologica LatinoamericanaHelicobacter pylori associated primary cutaneous nodular amyloidosis improvement through debulking and cauterization.
JAAD case reportsDermatoscopy of primary localised cutaneous amyloidosis - A cross-sectional study in a setting of South Asian public dermatology department.
Skin health and diseaseCharacterization of Epidermal Function in Individuals with Primary Cutaneous Amyloidosis.
Clinical, cosmetic and investigational dermatologyBarrier function and ultrastructure characteristics of epidermis in patients with primary cutaneous amyloidosis.
The Journal of dermatologySuccessful treatment of lichen amyloidosis coexisting with atopic dermatitis by dupilumab: Four case reports.
World journal of clinical casesDupilumab for treatment of severe atopic dermatitis accompanied by lichenoid amyloidosis in adults: Two case reports.
World journal of clinical casesImmunoglobulin G4-Related Disease-Associated Dermatitis with Pruritus: A Positive Response to Dupilumab.
Life (Basel, Switzerland)Primary cutaneous amyloidosis: A review of the available studies and gaps in data.
The Australasian journal of dermatologyAmyloidosis Cutis Dyschromica in a 16-Year-Old Filipino Girl: A Case Report.
Dermatopathology (Basel, Switzerland)Topical halometasone cream combined with fire needle pre-treatment for treatment of primary cutaneous amyloidosis: Two case reports.
World journal of clinical casesDermoscopy aids in differentiating primary cutaneous amyloidosis and post-inflammatory hyperpigmentation: A clinico-dermoscopic-histopathaological study.
Journal of cosmetic dermatologyFamilial primary cutaneous amyloidosis: Caspase activation may be involved in amyloid formation.
Experimental dermatologyLichen Amyloidosis on the Scalp: A Case Report.
Clinical, cosmetic and investigational dermatologyMultiple Indolent Asymptomatic Yellow-Orange Patches and Plaques.
CureusDiagnosing of primary cutaneous amyloidosis using dermoscopy and reflectance confocal microscopy.
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)Anosacral amyloidosis in a Chinese-Caribbean male.
JAAD case reportsTofacitinib for the treatment of primary cutaneous amyloidosis: A case report.
Dermatologic therapyFirst Case of Nodular Localized Primary Cutaneous Amyloidosis Treated With Bortezomib and Dexamethasone.
Journal of investigative medicine high impact case reportsDermoscopic Features of Lichen Amyloidosis in Caucasians-A Case Series and Literature Review.
Medicina (Kaunas, Lithuania)Amyloidosis cutis dyschromica cases caused by GPNMB mutations with different inheritance patterns.
Journal of dermatological scienceDiagnosis of Primary Cutaneous Amyloidosis by Rapid 4,6-Diamidino-2-Phenylindole Staining.
Dermatology (Basel, Switzerland)Dermoscopic features of primary cutaneous amyloidosis in skin of colour: A retrospective analysis of 48 patients from South India.
The Australasian journal of dermatologyAmyloidosis Cutis Dyschromica, A Rare Subtype of Primary Cutaneous Amyloidosis: Case Report and Literature Review.
Indian dermatology online journalPrimary cutaneous amyloidosis: A clinicopathological, histochemical, and immunohistochemical study.
Indian journal of pathology & microbiologyFractional Erbium-Doped Yttrium Aluminum Garnet Laser in the Treatment of Primary Cutaneous Amyloidosis.
Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]Case Report: Diagnosis of Primary Cutaneous Amyloidosis Using Dermoscopy and Reflectance Confocal Microscopy.
Frontiers in medicineA hyperpigmented plaque in a female patient.
JAAD case reportsUnilateral Isolated Primary Cutaneous Amyloidosis of the External Auditory Canal.
The journal of international advanced otologyFractional Carbon Dioxide Laser is Effective in Amelioration of Pruritus in Primary Cutaneous Amyloidosis: A Clinical and Biochemical Study.
Lasers in surgery and medicineNodular localized primary cutaneous amyloidosis and primary Sjögren's syndrome.
Scandinavian journal of rheumatologyPrimary cutaneous amyloidosis of auricular concha.
Indian journal of dermatology, venereology and leprologyDermoscopy of Primary Cutaneous Amyloidosis in Skin of Color.
Dermatology practical & conceptualIn vivo Diagnosis of Primary Cutaneous Amyloidosis -the Role of Reflectance Confocal Microscopy.
Diagnostics (Basel, Switzerland)Late-onset amyloidosis cutis dyschromica: an unusual case.
Dermatology online journalMacular cutaneous amyloidosis treated with methyl aminolevulinate and daylight photodynamic therapy: A case report.
SAGE open medical case reportsClinicopathological Study of Primary Cutaneous Amyloidosis in a Tertiary Care Center of Eastern India Reveals Insignificant Association with Friction, Scrubbing, and Photo-Exposure: How valid is the "Keratinocyte Hypothesis"?
Indian journal of dermatologyNodular amyloidosis in a patient with systemic scleroderma.
Dermatology online journalAtrophic nodular cutaneous amyloidosis.
Anais brasileiros de dermatologiaAn unusual presentation of primary cutaneous amyloidosis.
Dermatology online journalPrimary cutaneous amyloidosis associated with autoimmune hepatitis-primary biliary cirrhosis overlap syndrome and Sjögren syndrome: A case report.
MedicineLoss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans.
American journal of human geneticsAssociation of amyloidosis cutis dyschromica and familial Mediterranean fever.
Anais brasileiros de dermatologiaPrimary cutaneous amyloidosis of the auricular concha - case report.
Anais brasileiros de dermatologiaPrimary Cutaneous Amyloidosis: A Clinical, Histopathological and Immunofluorescence Study.
Journal of clinical and diagnostic research : JCDRCurrent insight in the localized insulin-derived amyloidosis (LIDA): clinico-pathological characteristics and differential diagnosis.
Pathology, research and practiceComparative proteomics analysis of primary cutaneous amyloidosis.
Experimental and therapeutic medicineAmyloidosis Cutis Dyschromica, a Rare Cause of Hyperpigmentation: A New Case and Literature Review.
PediatricsMultifocal primary cutaneous nodular amyloidosis.
Dermatology online journalSuccessful treatment of lichen amyloidosis accompanied by atopic dermatitis by fractional CO2 laser.
Journal of cosmetic and laser therapy : official publication of the European Society for Laser DermatologyReflectance confocal microscopy for the characterization of primary cutaneous amyloidosis: a pilot study.
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)Poikiloderma-like cutaneous amyloidosis--a rare presentation of primary localized cutaneous amyloidosis.
Dermatology online journalTreatment of primary cutaneous amyloidosis with laser: a review of the literature.
Lasers in medical science[Primary localized cutaneous nodular amyloidosis: A diagnostic and therapeutic challenge].
Annales de dermatologie et de venereologie[Primary cutaneous amyloidosis of the external ear: A peculiar, unusual and benign entity].
Medicina clinicaAmyloidosis Cutis Dyschromica: A Rare Reticulate Pigmentary Dermatosis.
Indian journal of dermatologyEfficacy of different modes of fractional CO2 laser in the treatment of primary cutaneous amyloidosis: A randomized clinical trial.
Lasers in surgery and medicineAmyloidosis cutis dyschromica in two siblings and review of the epidemiology, clinical features and management in 48 cases.
The Australasian journal of dermatologyHealth-related quality of life in patients with primary cutaneous amyloidosis.
PloS oneAssociações
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
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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.
- Symptomatic Vulvar Primary Cutaneous Amyloidosis Associated With Low-Risk HPV: A Case Report.
- Cutaneous Amyloidosis: An Updated Approach Focusing on Macular Amyloidosis.
- Dermatological Manifestations of Amyloid Light-Chain (AL) Amyloidosis: A Case Report Highlighting Early Diagnosis and Treatment.
- [Tapping with plum-blossom needle combined with sulfur ointment and local irradiation for primary cutaneous amyloidosis: a case report].
- Treatment of primary cutaneous amyloidosis with tofacitinib: preliminary observations from a single-arm clinical trial.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:137807(Orphanet)
- MONDO:0015301(MONDO)
- GARD:132(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q7243115(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
