A amiloidose liquenoide é uma doença rara e crônica da pele, marcada pelo acúmulo de depósitos de uma substância chamada amiloide na derme (uma das camadas da pele). Os sintomas visíveis (clínicos) incluem o surgimento de pequenas lesões na pele, tipo bolinhas ou caroços, que coçam muito. Essas lesões, que costumam ser mais escuras e ter a pele mais grossa ou áspera, aparecem no tronco e nos membros (braços e pernas), principalmente nas canelas. E, ao exame microscópico de uma amostra de pele (biópsia), observa-se o depósito de proteínas do tipo amiloide na camada mais superficial da derme.
Introdução
O que você precisa saber de cara
A amiloidose liquenoide é uma doença rara e crônica da pele, marcada pelo acúmulo de depósitos de uma substância chamada amiloide na derme (uma das camadas da pele). Os sintomas visíveis (clínicos) incluem o surgimento de pequenas lesões na pele, tipo bolinhas ou caroços, que coçam muito. Essas lesões, que costumam ser mais escuras e ter a pele mais grossa ou áspera, aparecem no tronco e nos membros (braços e pernas), principalmente nas canelas. E, ao exame microscópico de uma amostra de pele (biópsia), observa-se o depósito de proteínas do tipo amiloide na camada mais superficial da derme.
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Genética e causas
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Pesquisa e ensaios clínicos
5 ensaios clínicos encontrados.
Publicações mais relevantes
Dermatologic Features of Endocrine Tumor Syndromes-Systematic Review and Meta-Analysis.
Endocrine tumor syndromes, including multiple endocrine neoplasia types 1, 2A, and 2B (MEN1, MEN2A, MEN2B), Carney complex (CNC), and PTEN hamartoma tumor syndrome (PHTS), are hereditary conditions characterized by multisystem tumor development. Alongside endocrine neoplasms, these syndromes present with diverse cutaneous manifestations, offering valuable diagnostic clues for early recognition and management. This systematic review and meta-analysis aimed to evaluate and synthesize the dermatologic features associated with these syndromes. Following PRISMA 2020 guidelines, a systematic search of MEDLINE, Cochrane Library, and Embase databases was conducted. Eligible publications included original articles, case reports, and case series with detailed dermatological descriptions of patients with the aforementioned syndromes. Data extraction and risk of bias assessment were performed independently by multiple reviewers. Statistical analyses and data visualization were conducted using program package R. A total of 217 studies comprising 833 patients were included: 276 MEN1, 48 MEN2A, 9 MEN2B, 121 CNC, and 452 PHTS cases. Distinct dermatologic patterns emerged within each syndrome: angiofibromas, collagenomas, and lipomas in MEN1; cutaneous lichen amyloidosis in MEN2A; mucosal neuromas in MEN2B; lentiginosis and cutaneous myxomas in CNC; and trichilemmomas, papillomatous papules, and acral keratoses in PHTS. Melanoma prevalence was 2.2% in PHTS and 2.5% in MEN1 patients, underscoring the need for dermatologic vigilance. This review highlights the role of dermatologic assessment in identifying endocrine tumor syndromes, with cutaneous findings often serving as early, accessible markers of systemic disease. Enhanced awareness of these manifestations can facilitate timely genetic evaluation, cancer surveillance, and multidisciplinary intervention. Trial Registration: PROSPERO registration number: CRD42024558093.
Genotype-phenotype correlations of germline mutations in exon 10 of the RET proto-oncogene from 14 MEN2A families of Ethnic Han Chinese.
To investigate the genotype-phenotype correlations of multiple endocrine neoplasia type 2A (MEN2A) caused by mutations in exon 10 of the RET gene in Ethnic Han Chinese. A retrospective analysis was conducted on the family history and genetic characteristics of 14 independent MEN2A pedigrees, all carrying exon 10 mutations of the RET gene, from July 2003 to August 2023. A total of 74 out of 133 participants carried germline mutations in exon 10 of the RET gene. The cohort included 26 males and 48 females, with nine types of mutations observed: p.C609R, p.C611F/Y, p.C618G/R/S/Y and p.C620R/S. Of these, the C618 mutation was the most prevalent (71.6%), followed by p.C611 (22.9%), p.C620 (4.1%), and p.C609 (1.4%). The penetrance rates for medullary thyroid carcinoma (MTC), pheochromocytoma, hyperparathyroidism, hirschsprung disease, and cutaneous lichen amyloidosis were 90.3%, 6.9%, 2.8%, 1.4% and 1.4%, respectively. Among the 72 patients with available clinical information, 41 (56.9%) exhibited symptoms of MTC. Comparison of the age at diagnosis, size of MTC, and the positive rate of cervical lymph node metastasis (N1) revealed significant differences between patients with symptomatic and asymptomatic MTC (all P < 0.05). There was a significant difference in the positivity rate of N1 between patients with the p.C618/C620 mutations and those with the p.C609/C611 mutations. Additionally, there was a significant difference in the initial serum calcitonin levels between N1 and N0 patients (P < 0.05). Exon 10 mutations of the RET gene are frequently located in codon 618 and contribute to the familial MTC phenotype. To improve the recognition of MEN2A, integrating family history, testing for RET mutations, and monitoring serum calcitonin levels are essential for early diagnosis and personalised treatment.
An unbiased tissue transcriptome analysis identifies potential markers for skin phenotypes and therapeutic responses in atopic dermatitis.
Atopic dermatitis (AD) is a skin disease exhibiting clinical and molecular heterogeneity, thereby jeopardizing the development of personalized treatments. Here we pursue a cross-sectional and longitudinal cohort analysis of 951 whole-skin samples, employing an unsupervised decomposition analysis to link gene expression profiles to disease severity, six distinct skin phenotypes, and blood cytokines representative of given endotypes. Specifically, type 2 and type 17 responses are associated with major skin phenotypes such as erythema and induration, while type 1 response is upregulated in lichen amyloidosis of AD patients. Longitudinal analysis of patients treated with dupilumab finds sustained gene signatures related to type 17 response in lesional skin and upregulated transcription factors in non-lesional skin of patients with poor treatment outcomes. Lastly, several extracellular matrix organization-associated genes are correlated with clinical severity and treatment response to dupilumab. Our findings thus provide potential skin and blood biomarkers for assessing endotypes and therapeutic responses in AD to pave the way for personalized medicine.
Refractory Lichen Amyloidosis Coexisting With Atopic Dermatitis Responsive to Sequential Janus Kinase Inhibitor Therapy: Upadacitinib Followed by Abrocitinib.
Landscape of Phenotype-Genotype Correlations in Romanian Patients with Medullary Thyroid Carcinoma.
To comprehensively characterize the genetic landscape of medullary thyroid carcinoma (MTC) in a Romanian cohort. Germline and somatic RET testing were performed in 164 MTC patients (105 sporadic, 59 hereditary) consecutively enrolled at a single tertiary center (2021-2024) using genomic DNA or DNA extracted from fresh surgical or paraffin-embedded pathology specimens. Hereditary MTC (hMTC) accounted for 59/164 (35.9%) cases. Among hMTC, 58/59 (98.3%) had MEN2 (72.4% classic, 5.2% with cutaneous lichen amyloidosis, 5.2% with Hirschsprung disease, and 17.2% with familial medullary thyroid carcinoma), and 1/59 (1.7%) had MEN3. Codon 634 mutations were the most prevalent (33/59, 55.9%). Extracellular cysteine-rich domain mutations were significantly more prevalent in syndromic cases (p = 0.006), while non-cysteine mutations were predominant in apparently sporadic cases (p = 0.006). In advanced MTC (stage III/IV or metastatic), the somatic M918T mutation was the most common (15/20, 75% cases). Germline RET screening is mandatory for all MTC cases. Somatic testing is critical in advanced disease, where M918T prevails in 75% of cases and guides tyrosine kinase inhibitor therapy. Codon 634 is the most frequent mutation in Romanian MTC, highlighting regional variation warranting population-adjusted screening and earlier prophylactic thyroidectomy.
Publicações recentes
Nemolizumab for Lichen Amyloidosis With Serial Serum Interleukin-31 Levels: A Case Report.
Landscape of Phenotype-Genotype Correlations in Romanian Patients with Medullary Thyroid Carcinoma.
Refractory Lichen Amyloidosis Coexisting With Atopic Dermatitis Responsive to Sequential Janus Kinase Inhibitor Therapy: Upadacitinib Followed by Abrocitinib.
Improvement of Low-Dose Abrocitinib-Resistant Lichen Amyloidosis with Dupilumab: Two Case Reports.
Dermatologic Features of Endocrine Tumor Syndromes-Systematic Review and Meta-Analysis.
📚 EuropePMC163 artigos no totalmostrando 103
Landscape of Phenotype-Genotype Correlations in Romanian Patients with Medullary Thyroid Carcinoma.
CancersRefractory Lichen Amyloidosis Coexisting With Atopic Dermatitis Responsive to Sequential Janus Kinase Inhibitor Therapy: Upadacitinib Followed by Abrocitinib.
The Kaohsiung journal of medical sciencesImprovement of Low-Dose Abrocitinib-Resistant Lichen Amyloidosis with Dupilumab: Two Case Reports.
Clinical, cosmetic and investigational dermatologyDermatologic Features of Endocrine Tumor Syndromes-Systematic Review and Meta-Analysis.
International journal of dermatologyRemission of lichen amyloidosis achieved with upadacitinib: A case report.
JAAD case reportsGenotype-phenotype correlations of germline mutations in exon 10 of the RET proto-oncogene from 14 MEN2A families of Ethnic Han Chinese.
PloS oneTreatment of primary cutaneous amyloidosis with tofacitinib: preliminary observations from a single-arm clinical trial.
Clinical and experimental dermatologyNemolizumab for treatment of lichen amyloidosis.
JAAD case reportsLichen Amyloidosis of Legs Treated with Topical Corticosteroids and NB-UVB Phototherapy.
Indian dermatology online journalNemolizumab for the treatment of refractory primary localized cutaneous amyloidosis in a nonatopic patient.
JAAD case reportsAn unbiased tissue transcriptome analysis identifies potential markers for skin phenotypes and therapeutic responses in atopic dermatitis.
Nature communicationsEffective dupilumab treatment for lichen amyloidosis with GATA3+ cell infiltration.
European journal of dermatology : EJDSuccessful treatment of lichen amyloidosis with cryotherapy.
Indian journal of dermatology, venereology and leprologyGeneralized lichen amyloidosis in a pregnant woman: Coincidence or association.
Obstetric medicineAnalysing the Role of Ultraviolet A1 Phototherapy in the Treatment of Primary Cutaneous Lichen Amyloidosis in a Patient With Skin Phototype 1.
Photodermatology, photoimmunology & photomedicineHistopathological Insights into Primary Localized Cutaneous Amyloidosis: A Case Series.
CureusRapid clinical response to nemolizumab in dermatologic diseases associated with pruritus and burning: A multicenter case series.
Journal of the American Academy of DermatologyHereditary Medullary Thyroid Cancer: Genotype-Phenotype Correlation.
Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancerRET C611Y Germline Variant in Multiple Endocrine Neoplasia Type 2A in Denmark 1930-2021: A Nationwide Study.
CancersCase report: Abrocitinib: a potential therapeutic option for lichen amyloidosis associated with atopic dermatitis.
Frontiers in immunologyEndocrine Perspective of Cutaneous Lichen Amyloidosis: RET-C634 Pathogenic Variant in Multiple Endocrine Neoplasia Type 2.
Clinics and practiceA Case of Cushing's Disease and a RET Pathogenic Variant: Exploring Possible Rare Associations.
CureusUse of dupilumab as a novel treatment for refractory lichen amyloidosis.
JAAD case reportsMolecular diagnostic approaches in detecting rearranged during transfection oncogene mutations in multiple endocrine neoplasia type 2.
World journal of clinical casesLiving with a RET gene mutation: patient perspectives.
Endocrine-related cancerThyroid Malignancy and Cutaneous Lichen Amyloidosis: Key Points Amid RET Pathogenic Variants in Medullary Thyroid Cancer/Multiple Endocrine Neoplasia Type 2 (MEN2).
International journal of molecular sciences[Generalized Amyloid Lichen Associated with Primary Biliary Cholangitis: A Case Report].
Acta gastroenterologica LatinoamericanaLichen Amyloidosis of the External Ear.
Indian dermatology online journalLichen Amyloidosis in an Atopic Patient Treated with Dupilumab: A New Therapeutic Option.
Diseases (Basel, Switzerland)Primary Localized Cutaneous Amyloidosis in Central Europe: A Retrospective Monocentric Study on Epidemiology and Therapy.
Journal of clinical medicineClinical Characteristics of Lichen Amyloidosis Associated with Atopic Dermatitis: A Single Center, Retrospective Study.
Annals of dermatologyThe efficacy of topical 0.025% capsaicin gel for the treatment of lichen amyloidosis: A pilot study.
The Australasian journal of dermatologyImprovement in Lesions of Co-Existing Lichen Amyloidosis and Vitiligo with Dexamethasone Oral Mini Pulse Therapy.
Indian dermatology online journalA Case Report of Generalized Non-pruritic Lichen Amyloidosis.
CureusSuccessful treatment of lichen amyloidosis coexisting with atopic dermatitis by dupilumab: Four 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 dermatologyMultiple skin neoplasms at one site (MUSK IN A NEST): collision tumor consisting of epidermal (macular seborrheic keratosis) and dermal (lichen amyloidosis) components.
Dermatology online journalLichen amyloidosis: towards pathogenesis-driven targeted treatment.
Clinical and experimental dermatologyCoexistent Lichen Amyloidosis and Acquired Reactive Perforating Collagenosis in Type 2 Diabetes Mellitus and Post-Thyroidectomy Hypothyroidism Due to Papillary Thyroid Carcinoma: A Rare Case.
International medical case reports journalUpadacitinib for treatment-resistant Lichen amyloidosis.
Journal of the European Academy of Dermatology and Venereology : JEADVHigh-Frequency Electrosurgery for Generalized Lichen Amyloidosis.
Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]A unique case of concurrent cutaneous lichen amyloidosis and myxedema.
Dermatology online journal[Clinical and genetic analysis of seven Chinese pedigrees affected with multiple endocrine neoplasia type 2A with cutaneous lichen amyloidosis].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsRefractory cutaneous lichen amyloidosis coexisting with atopic dermatitis responds to the Janus Kinase inhibitor baricitinib.
Dermatologic therapyA Case of Lichen Amyloidosis Successfully Treated with Alitretinoin.
Indian journal of dermatologyLichen Amyloidosis on the Scalp: A Case Report.
Clinical, cosmetic and investigational dermatologyAnosacral amyloidosis in a Chinese-Caribbean male.
JAAD case reportsDermoscopic Features of Lichen Amyloidosis in Caucasians-A Case Series and Literature Review.
Medicina (Kaunas, Lithuania)The therapeutic role of lasers in primary localized cutaneous amyloidosis: a systematic review.
Lasers in medical sciencePrimary Localized Cutaneous Amyloidosis: A Retrospective Study of an Uncommon Skin Disease in the Largest Tertiary Care Center in Switzerland.
Dermatology (Basel, Switzerland)Efficacy of 1064-nm Nd:YAG picosecond laser in lichen amyloidosis treatment: clinical and dermoscopic evaluation.
Journal of cosmetic and laser therapy : official publication of the European Society for Laser DermatologyPrimary Localized Cutaneous Amyloidosis of Keratinocyte Origin: An Update with Emphasis on Atypical Clinical Variants.
American journal of clinical dermatologyElevated basal serum levels of calcitonin and simultaneous surgery of MEN2A-specific tumors.
NeoplasmaFotoFinder Dermoscopy Analysis and Histopathological Correlation in Primary Localized Cutaneous Amyloidosis.
Dermatology practical & conceptualA case of lichen amyloidosis associated with atopic dermatitis successfully treated with dupilumab: A case report and literature review.
Dermatologic therapyMultiple endocrine neoplasia type 2: A review.
Seminars in cancer biologyFractional 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.]Successful Treatment of Lichen Amyloidosis Using a Fixed Combination of Halobetasol-Propionate and Tazarotene Lotion.
Journal of drugs in dermatology : JDDDermatoscopic features of lichen amyloidosis: A case report.
The Australasian journal of dermatologyClinical resolution of generalized lichen amyloidosis with dupilumab: a new alternative therapy.
Dermatology online journalTreatment of lichen amyloidosis with fractional CO2 laser and topical steroid: a preliminary study of 10 cases.
Lasers in medical scienceA case report and differential diagnosis of pruritic pretibial skin lesions.
Acta dermatovenerologica Alpina, Pannonica, et AdriaticaMultiple endocrine neoplasia type 2A with cutaneous lichen amyloidosis.
BMJ case reportsA primer on the genetics of medullary thyroid cancer.
Current oncology (Toronto, Ont.)A Rare Presentation of Nodular Amyloidosis on the Lower Back.
CureusSymmetric lichen amyloidosis: an atypical location on the bilateral extensor surfaces of the arms.
CutisPostherpetic hypohidrosis-related isotopic response associated with lichen planus and lichen amyloidosis.
European journal of dermatology : EJDClinicopathological 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 dermatologyLong-term follow-up of RET Y791F carriers in Denmark 1994-2017: A National Cohort Study.
Journal of surgical oncologyImage Gallery: Dermoscopy of lichen amyloidosis.
The British journal of dermatologyThe RET C611Y mutation causes MEN 2A and associated cutaneous.
Endocrine connectionsSuccessful Treatment of Lichen Amyloidosis With Trichloroacetic Acid Peels.
Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]An intensely pruritic pebbled presentation.
Dermatology online journalMetastatic pheochromocytoma in MEN 2A: A rare association.
BMJ case reportsLichen amyloidosis of the scalp and forehead.
Dermatology online journalThe Clinical Spectrum of Multiple Endocrine Neoplasia Type 2A with Cutaneous Lichen Amyloidosis in Ethnic Han Chinese.
Cancer investigationLichen amyloidosis successfully treated with fractional ablative laser CO2: A new alternative therapeutic.
Journal of cosmetic and laser therapy : official publication of the European Society for Laser DermatologyDermatologic manifestations of endocrine disorders.
Translational pediatricsPrimary Cutaneous Amyloidosis: A Clinical, Histopathological and Immunofluorescence Study.
Journal of clinical and diagnostic research : JCDRAlitretinoin treatment of lichen amyloidosis.
Dermatologic therapyLichen amyloidosis involving the scalp.
The Australasian journal of dermatologySuccessful 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 DermatologyPrimary Localized Cutaneous Amyloidosis: A Systematic Treatment Review.
American journal of clinical dermatologyIncrease in sensory sensitivity around, but not in the central part of, the hyperkeratotic papule in lichen amyloidosis.
The British journal of dermatologyLichen amyloidosis associated with rheumatoid arthritis: unique presentation in a Bulgarian patient.
Sao Paulo medical journal = Revista paulista de medicinaImage Gallery: Lichen amyloidosis on the external auditory canal.
The British journal of dermatologyGeneration of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2A (MEN2A) syndrome with RET mutation.
Stem cell researchRipple-pattern lichen amyloidosis in a case of ichthyosis vulgaris with a novel FLG mutation.
Journal of the European Academy of Dermatology and Venereology : JEADV[Genotype-phenotype correlations in multiple endocrine neoplasia type 2].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgeryOral isotretinoin: A new treatment alternative for generalized lichen amyloidosis.
The Australasian journal of dermatologyTreatment of primary cutaneous amyloidosis with laser: a review of the literature.
Lasers in medical scienceMEN 2A-related cutaneous lichen amyloidosis: report of three kindred and systematic literature review of clinical, biochemical and molecular characteristics.
Familial cancerCutaneous lichen amyloidosis in multiple endocrine neoplasia.
Internal medicine journalTHE AUTOIMMUNE CONSTELLATION IN LICHEN AMYLOIDOSIS.
Revista medico-chirurgicala a Societatii de Medici si Naturalisti din IasiVesicular lesions in lichen amyloidosis.
Indian journal of dermatology, venereology and leprologyHereditary Medullary Thyroid Cancer Genotype-Phenotype Correlation.
Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancerGenotype-Phenotype Correlation in Indian Patients with MEN2-Associated Pheochromocytoma and Comparison of Clinico-Pathological Attributes with Apparently Sporadic Adrenal Pheochromocytoma.
World journal of surgeryEfficacy of different modes of fractional CO2 laser in the treatment of primary cutaneous amyloidosis: A randomized clinical trial.
Lasers in surgery and medicineSuccessful treatment of lichen amyloidosis using capsaicin 8% patch.
Journal of the European Academy of Dermatology and Venereology : JEADVFractional 1,550 nm Ytterbium/Erbium fiber laser in the treatment of lichen amyloidosis: clinical and histological study.
Lasers in surgery and medicineBullous variant of familial biphasic lichen amyloidosis: a unique combination of three rare presentations.
Indian journal of dermatologyEpidermolysis bullosa pruriginosa: a case with a novel mutation and co-existent lichen amyloidosus.
Indian journal of dermatology, venereology and leprologyAssociações
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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.
- Dermatologic Features of Endocrine Tumor Syndromes-Systematic Review and Meta-Analysis.
- Genotype-phenotype correlations of germline mutations in exon 10 of the RET proto-oncogene from 14 MEN2A families of Ethnic Han Chinese.
- An unbiased tissue transcriptome analysis identifies potential markers for skin phenotypes and therapeutic responses in atopic dermatitis.
- Refractory Lichen Amyloidosis Coexisting With Atopic Dermatitis Responsive to Sequential Janus Kinase Inhibitor Therapy: Upadacitinib Followed by Abrocitinib.
- Landscape of Phenotype-Genotype Correlations in Romanian Patients with Medullary Thyroid Carcinoma.
- Nemolizumab for Lichen Amyloidosis With Serial Serum Interleukin-31 Levels: A Case Report.
- Improvement of Low-Dose Abrocitinib-Resistant Lichen Amyloidosis with Dupilumab: Two Case Reports.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:49804(Orphanet)
- MONDO:0018856(MONDO)
- GARD:18839(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55788384(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
