Uma genodermatose (doença genética que afeta a pele e outros tecidos) caracterizada pela presença de múltiplos crescimentos anormais, mas geralmente benignos (conhecidos como hamartomas), em várias partes do corpo. Também aumenta o risco de desenvolver cânceres na mama, tireoide, endométrio (revestimento interno do útero), rim e colorretal (intestino grosso e reto). Quando esta condição (Síndrome de Cowden ou CS) é acompanhada por mutações genéticas hereditárias no gene PTEN, ela é classificada no grupo da síndrome de tumores hamartomatosos PTEN (PHTS).
Introdução
O que você precisa saber de cara
Uma genodermatose (doença genética que afeta a pele e outros tecidos) caracterizada pela presença de múltiplos crescimentos anormais, mas geralmente benignos (conhecidos como hamartomas), em várias partes do corpo. Também aumenta o risco de desenvolver cânceres na mama, tireoide, endométrio (revestimento interno do útero), rim e colorretal (intestino grosso e reto). Quando esta condição (Síndrome de Cowden ou CS) é acompanhada por mutações genéticas hereditárias no gene PTEN, ela é classificada no grupo da síndrome de tumores hamartomatosos PTEN (PHTS).
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
Partes do corpo afetadas
+ 36 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 97 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
9 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Involved in the negative regulation of epithelial-mesenchymal transition, the process by which epithelial cells lose their polarity and adhesion properties to become mesenchymal cells with enhanced migration and invasive properties
Nucleus
DNA-binding protein involved in S phase checkpoint control-coupled apoptosis by mediating p53/TP53-induced apoptosis. Has the ability to inhibit DNA synthesis and S phase arrest coupled to apoptosis. Has affinity to both double- and single-stranded DNA
Nucleus
Cowden syndrome 4
A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid.
AKT1 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, growth and angiogenesis (PubMed:11882383, PubMed:15526160, PubMed:15861136, PubMed:21432781, PubMed:21620960, PubMed:31204173). This is mediated through serine and/or threonine phosphorylation of a range of downstream substrates (PubMed:11882383, PubMed:15526160, PubMed:21432781, PubMed:21620960, PubMe
CytoplasmNucleusCell membraneMitochondrion intermembrane space
Breast cancer
A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) (PubMed:10482792, PubMed:9533030). SDH also oxidizes malate to the non-canonical enol form of oxaloacetate, enol-oxaloacetate (By similarity). Enol-oxaloacetate, which is a potent inhibitor of the succinate dehydrogenase activity, is further isomerized into keto-oxaloacetate
Mitochondrion inner membrane
Pheochromocytoma/paraganglioma syndrome 1
A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL1 inheritance is autosomal dominant.
Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) (PubMed:9533030). SDH also oxidizes malate to the non-canonical enol form of oxaloacetate, enol-oxaloacetate (By similarity). Enol-oxaloacetate, which is a potent inhibitor of the succinate dehydrogenase activity, is further isomerized into keto-oxaloacetate (By similarity)
Mitochondrion inner membrane
Pheochromocytoma/paraganglioma syndrome 3
A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL3 inheritance is autosomal dominant.
Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides (PubMed:15135396, PubMed:23936502, PubMed:28676499). Uses ATP and PtdIns(4,5)P2 (phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3) (PubMed:15135396, PubMed:28676499). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1,
Iron-sulfur protein (IP) subunit of the succinate dehydrogenase complex (mitochondrial respiratory chain complex II), responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) (PubMed:26925370, PubMed:27604842). SDH also oxidizes malate to the non-canonical enol form of oxaloacetate, enol-oxaloacetate (By similarity). Enol-oxaloacetate, which is a potent inhibitor of the succinate dehydrogenase activity, is further isomerized into keto-oxaloacetate (By similarity)
Mitochondrion inner membrane
Pheochromocytoma/paraganglioma syndrome 4
A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL4 inheritance is autosomal dominant.
Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex
Cytoplasmic vesicle, COPII-coated vesicle membraneEndoplasmic reticulum membraneCytoplasm, cytosol
Cowden syndrome 7
A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. CWS7 inheritance is autosomal dominant.
Dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins (PubMed:9187108, PubMed:9256433, PubMed:9616126). Also functions as a lipid phosphatase, removing the phosphate in the D3 position of the inositol ring of PtdIns(3,4,5)P3/phosphatidylinositol 3,4,5-trisphosphate, PtdIns(3,4)P2/phosphatidylinositol 3,4-diphosphate and PtdIns3P/phosphatidylinositol 3-phosphate with a preference for PtdIns(3,4,5)P3 (PubMed:16824732, PubMed:26504226, PubM
CytoplasmNucleusNucleus, PML bodyCell projection, dendritic spinePostsynaptic densitySecreted
Cowden syndrome 1
An autosomal dominant hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid.
Variantes genéticas (ClinVar)
287 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 3,464 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
69 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 — Síndrome Cowden
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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
2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
15 ensaios clínicos encontrados, 3 ativos.
Publicações mais relevantes
Epilepsy in pediatric patients with PTEN hamartoma tumor syndrome: First step in recommendations for clinical management.
PTEN Hamartoma Tumor Syndrome (PHTS) is an autosomal dominant syndrome caused by a mutation in the PTEN gene. Previous studies have suggested an association between PHTS and epilepsy, but the clinical characteristics of epilepsy in PHTS remain unknown. This study aims to expand knowledge of epilepsy in PHTS and provide insights into its clinical features. A retrospective observational study was conducted at the Radboud University Medical Center, including 149 patients with clinically or genetically confirmed PHTS. Electronic patient records were reviewed for baseline characteristics, epileptic features, therapeutic interventions, and neuroimaging results. A cumulative risk analysis for developing epilepsy was performed. The prevalence of epilepsy among PHTS patients in this cohort was found to be 6%, with an estimated PHTS prevalence of 1:20 000 in the Netherlands. Autism spectrum disorder (ASD) was significantly associated with an increased risk of developing epilepsy (p = 0.002). A range of seizure semiologies was observed, with focal epilepsy being the most common, presenting as focal seizures with impaired awareness. EEG results predominantly showed (multi)focal discharges with variable localization. MRI abnormalities did not correlate with epileptic foci on EEG. This study highlights the clinical characteristics of epilepsy in pediatric patients with PHTS. Follow-up should include monitoring for characteristics of focal epilepsy, with EEG utilized selectively when such episodes are observed, rather than as a routine screening measure. Treatment strategies should be individualized based on the patient's characteristics. In cases of epilepsy, MRI is recommended to identify potential structural malformations amenable to surgical intervention.
Hereditary Endometrial Cancer: Lynch Syndrome, Mismatch Repair Deficiency, and Emerging Genetic Predispositions-A Comprehensive Review with Clinical and Laboratory Guidelines.
Endometrial cancer is the most common gynaecologic malignancy in high-income countries, with a rising incidence largely driven by reproductive factors, obesity, and prolonged exposure to unopposed oestrogens. Although most cases are sporadic, approximately 2-5% are associated with hereditary cancer syndromes, of which Lynch syndrome represents the most important contributor. Lynch syndrome results from germline mutations in DNA mismatch repair (MMR) genes and is associated with a substantially increased lifetime risk of endometrial cancer, reaching up to 71% in carriers of MutS homologue 6 (MSH6) mutations. Hereditary cancer predisposition typically follows an autosomal dominant inheritance pattern and may be suspected based on clinical warning signs such as early disease onset, multiple primary malignancies, a strong family history, or the presence of microsatellite instability in tumour tissue. In addition to Lynch syndrome, rarer genetic conditions-including Cowden syndrome (PTEN), Li-Fraumeni syndrome (TP53), polymerase proofreading-associated polyposis (POLE/POLD1), and hereditary breast and ovarian cancer syndromes (BRCA1/2)-also contribute to hereditary endometrial cancer risk. Recognition of these genetic backgrounds is essential for accurate diagnosis, personalised surveillance, and the implementation of targeted preventive and therapeutic strategies. Despite major advances in molecular diagnostics, hereditary endometrial cancer remains frequently underdiagnosed, leading to missed opportunities for cancer prevention among affected individuals and their families. This comprehensive review summarises current evidence on hereditary predispositions to endometrial cancer, with a particular emphasis on Lynch syndrome, and discusses underlying genetic mechanisms, inheritance patterns, diagnostic strategies, and clinical implications for screening, genetic counselling, and treatment optimisation.
Dysplastic cerebellar gangliocytoma: a six-decade study.
Dysplastic cerebellar gangliocytoma (DCG) is a rare cerebellar tumor glioneuronal and neuronal tumor with phosphatase and tensin homolog (PTEN) identified as a key altered gene. The aim of this study is to establish DCG diagnostic and outcome trends over a six-decade and present cases from our institution. A literature review of online databases was performed using relevant terms (January 1970-October 2024). Our institution pathology database was queried for patients with DCG (2000-2024). Data was extracted and dichotomized in adult and pediatric cases. We report three new DCG cases in addition to the 170 DCG cases reported across 97 articles over seven decades, with 52% of articles published since 2010. DCG predominantly occurred in adults (>18 years, 82%), women (59%), at mean age 9.0±6.3 years and 38.1±13.7 years in pediatric and adult patients, respectively. Balance/coordination deficit, headache and visual deficit were the most common presenting symptoms. MRI "tiger-stripe" pattern was present in 67%. Surgical resection was the treatment of choice for >97% of patients. Association with Cowden Syndrome (CS) was confirmed in 67% of patients. PTEN mutations identified in 48.3% of cases, primarily affecting chromosome 10 (10q23.3). Progression-free survival was experienced by 74% of patients and reoperation for progression needed in 3.5% of cases. DCG is a rare tumor associated with PTEN mutations. MRI aids in diagnosis and surgery ensures favorable outcomes. Standardized genetic screening and targeted therapies require further study, as they hold promise for refining diagnosis and long-term management.
Cerebellopontine angle SHH-activated embryonal tumor without interaction from the cerebellum in a patient with Cowden syndrome: A case report.
A Successful Live Birth After Double Fertility Preservation With Embryo Cryopreservation and MPA Therapy Combined With Hysteroscopic Resection for Metachronous Breast and Endometrial Cancer in Women With Cowden Syndrome: A Case Report.
Cowden syndrome is an autosomal-dominantly inherited rare condition caused by germline pathogenic variants of the PTEN gene. Multiple tumor development at a younger age in this syndrome may warrant different modalities of fertility preservation. Here we report that women with this syndrome gave successful live birth with frozen-thaw embryo transfer that was cryopreserved before the start of chemotherapy for breast cancer. This woman also suffered from endometrial cancer that developed during hormonal treatment with GnRH agonist and tamoxifen for breast cancer. The lesion was well controlled with oral MPA therapy and hysteroscopic resection. She could receive fertility preservation for breast cancer and endometrial cancer before fertility treatment and pregnancy. This is the first report of live births after multiple fertility preservation therapy for metachronous breast and uterine cancer in Cowden syndrome. Appropriate genetic counseling may help the patient's decision making. The treatment plan should be discussed with diverse professionals such as oncologists, reproductive physicians, perinatologists, geneticists, and genetic counselors.
Publicações recentes
Remarkable response of metaplastic breast cancer to a novel targeted AKT inhibitor TAS-117 in a Cowden syndrome patient: a case report.
Cowden syndrome gastrointestinal polyposis.
An intriguing journey into the hereditary syndromes predisposing to endometrial cancer: more than believed.
🥈 ObservacionalEpilepsy in pediatric patients with PTEN hamartoma tumor syndrome: First step in recommendations for clinical management.
A Successful Live Birth After Double Fertility Preservation With Embryo Cryopreservation and MPA Therapy Combined With Hysteroscopic Resection for Metachronous Breast and Endometrial Cancer in Women With Cowden Syndrome: A Case Report.
📚 EuropePMC427 artigos no totalmostrando 197
Epilepsy in pediatric patients with PTEN hamartoma tumor syndrome: First step in recommendations for clinical management.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyA Successful Live Birth After Double Fertility Preservation With Embryo Cryopreservation and MPA Therapy Combined With Hysteroscopic Resection for Metachronous Breast and Endometrial Cancer in Women With Cowden Syndrome: A Case Report.
Reproductive medicine and biologyCase of a genodermatosis presenting with verrucous lesions mimicking treatment-refractory warts.
JAAD case reportsCowden Syndrome: Imaging Review and Cancer Surveillance.
Radiographics : a review publication of the Radiological Society of North America, IncHereditary Endometrial Cancer: Lynch Syndrome, Mismatch Repair Deficiency, and Emerging Genetic Predispositions-A Comprehensive Review with Clinical and Laboratory Guidelines.
International journal of molecular sciencesA rare co-presentation of bicuspid aortic valve aortopathy and PTEN mutation: hypothesis-generating, not practice-changing.
Indian journal of thoracic and cardiovascular surgeryCowden syndrome presenting with ascending aortic aneurysm: echocardiogram and computed tomography angiography findings.
Indian journal of thoracic and cardiovascular surgeryLife-Threatening Hemoptysis Due to Arteriovenous Venous Malformation in Cowden Syndrome.
Pediatric pulmonologyCowden Syndrome in Childhood: Gastrointestinal Involvement in a Multisystem Genetic Disorder-A Case Report.
Reports (MDPI)Unmasking familial follicular cell-derived thyroid neoplasms associated with syndromes: DICER1 and PTEN-hamartoma tumor syndromes.
Virchows Archiv : an international journal of pathologyOral squamous cell carcinoma risk and magnitude of association in inherited cancer predisposition syndromes: evidence from a large real-world cohort.
Oral surgery, oral medicine, oral pathology and oral radiologyGenetic and immunohistochemical studies identify recurrent ACTB mutations and PTEN alterations in tubular adenomas of the breast.
Histopathology[Clinical characterization and genetic analysis of two Chinese patients with Cowden syndrome due to variants of PTEN gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsNon-Syndromic Ganglioneuromatosis of the Gallbladder, an Extremely Rare Condition: Case Report and Literature Review.
Reports (MDPI)Intraoral Sclerotic Fibroma: A Detailed Immunohistochemical Study Highlighting Expression of Histiocytic Markers.
Journal of cutaneous pathologyCowden Syndrome With a Co-existing Lynch Syndrome Risk Mutation.
CureusPeribronchial Arteriovenous Malformation with Cowden Syndrome: A Rare Case Report.
Annals of thoracic and cardiovascular surgery : official journal of the Association of Thoracic and Cardiovascular Surgeons of AsiaGynecologic Manifestations of Hereditary Syndromes: Clinical and Imaging Spectrum.
Radiographics : a review publication of the Radiological Society of North America, IncCobblestone appearance of oral mucosa: A diagnostic conundrum.
SAGE open medical case reportsCase Report: A case series of Lhermitte-Duclos disease with surgical intervention.
Frontiers in oncologyThe Value of Punching It Out: Patient With Cowden Syndrome and MALT Lymphoma of the Lung.
Case reports in oncological medicineOvarian vascular malformation - clinical presentation of Cowden syndrome.
Ceska gynekologieDysplastic cerebellar gangliocytoma: a six-decade study.
Journal of neurosurgical sciencesPaired DNA/RNA testing uncovers a deep intronic PTEN pathogenic variant associated with clinical Cowden Syndrome: a case report.
Frontiers in oncologyDermatology-related disorders named after patients.
Clinics in dermatologyMulti-modal Malignancies in Cowden Syndrome: Diagnostic Challenges in a Suspected Case From a Low-Resource Setting.
CureusConventional and alternative approaches for targeting PIK3CA and PTEN alterations in head and neck, breast, and other cancers.
Advances in biological regulationOphthalmological manifestations in a cohort of Cowden syndrome patients in a large tertiary healthcare system.
Eye (London, England)Dysplastic gangliocytoma of the cerebellum with an unusual radiological finding.
Ceskoslovenska patologieHeterozygous Mutations of PTEN in Macrocephaly Patient With Epilepsy: A Case Report.
Case reports in medicineMolecular and genetic evidence for the role of AMBRA1 in suppressing S-phase entry and tumorigenesis.
iScienceprotPheMut: An Interpretable Machine Learning Tool for Classification of Cancer and Neurodevelopmental Disorders in Human Missense Mutations.
Journal of chemical information and modelingFamilial Thyroid Cancers Syndromes.
Endocrinology and metabolism clinics of North AmericaPTEN Hamartoma Tumor Syndrome/Cowden Syndrome With Diffuse Sebaceous Gland Hyperplasia: Description of an Atypical Phenotype and a Previously Undescribed Pathogenic Variant.
The Journal of dermatologyCerebellopontine angle SHH-activated embryonal tumor without interaction from the cerebellum in a patient with Cowden syndrome: A case report.
Journal of neuropathology and experimental neurologyAdolescent With Penile Lesions.
Pediatric dermatologyUtility, Performance and Safety of Single Balloon Enteroscopy in Patients with Hereditary Polyposis Syndromes.
Journal of gastrointestinal and liver diseases : JGLDAtypical Manifestations of Cowden Syndrome in Pediatric Patients.
Diagnostics (Basel, Switzerland)Genetic profiling of inherited colorectal cancer syndromes in Tunisian patients.
PloS oneHypertrophic Tongue Papillae in Cowden Syndrome/PTEN Hamartoma Tumor Syndrome.
JAMA dermatologySirolimus for Colon Polyposis in PTEN Hamartoma Tumor Syndrome.
Clinical and translational gastroenterologyTwo illustrative cases of adult Lhermitte-Duclos disease and a systematic review of literature related to surgical management.
Brain & spineMetastatic Breast Cancer to a Dedifferentiated Solitary Fibrous Tumor Arising from a PTEN Hamartoma of Soft Tissue.
International journal of surgical pathologyA De Novo PTEN Pathogenic Variant in a Young Girl with Sporadic Cowden Syndrome-A Case Report.
Pediatric reportsEditor's Note to: Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation.
Human molecular geneticsScreening at the scope: enhancing the role of pathologists in diagnosing gastrointestinal polyposis syndromes.
Virchows Archiv : an international journal of pathologyIn vivo and in vitro analysis of functional effects of the SDHD H50R variant.
Endocrine-related cancerExpression of Concern: Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation.
Human molecular geneticsAtypical thyroid manifestation in Cowden disease: a case report and literature review.
Frontiers in pediatricsNeural or Neural-Related Colorectal Lesion Incidence Varies by Site, and Multifocal Cases Are Often Syndromic: Insights From a Series of 593 Patients.
Archives of pathology & laboratory medicineEarly-Onset Colorectal Cancer: When to Include Cowden Syndrome in Your Differential Diagnosis.
ACG case reports journalPhenotypic Variability of Cowden Syndrome Within a Single Family: Impact on Diagnosis, Management and Genetic Counselling.
Balkan journal of medical genetics : BJMGA diagnostic challenge: A rare case of PTEN hamartoma of soft tissue of the mental region.
International journal of surgery case reports[Prophylactic hysterectomy (Lynch syndrome, BRCA and others)].
Bulletin du cancerPancreatic Mixed Acinar-neuroendocrine Carcinoma in a Patient With a Germline PTEN Variant: A Case Report and Genomic Literature Review.
In vivo (Athens, Greece)Breast Cancer with a Newly Diagnosed Variant in the PTEN Gene: A Case Report.
Surgical case reportsGermline Variants in Pediatric Cancer : Based on Oncogenic Pathways.
Journal of Korean Neurosurgical SocietyRetracted: Cowden Syndrome and Oral Lesions: A Case Report Using MLPA.
The American journal of case reportsFROM ONCOLOGIST TO SURGEON - GENETICS IN COLORECTAL METASTASIS FOR SURGEONS.
Arquivos brasileiros de cirurgia digestiva : ABCD = Brazilian archives of digestive surgeryA Newborn with Cleft Palate Associated with PTEN Hamartoma Tumor Syndrome.
Clinics and practiceCowden Syndrome and Oral Lesions: A Case Report Using MLPA.
The American journal of case reportsDysplastic ganglion cell tumor of the right cerebellum: A case report and literature review.
MedicineClinical, histological and receptor profiles of invasive breast cancer and ductal carcinoma in situ in females with germline pathogenic variants in PTEN and implications for germline testing.
PathologyPathologists' integration of prior biopsies of women with germline PTEN mutations may expedite the identification of this rare cancer predisposition syndrome.
Pathology[Thyroid cancer in a child with Cowden syndrome].
Problemy endokrinologiiClassification of PTEN germline non-truncating variants: a new approach to interpretation.
Journal of medical geneticsConstitutional Mutation of PIK3CA: A Variant of Cowden Syndrome?
GenesTesticular Lipomatosis Incidentally Detected by F-18 FDG PET/CT in a Cowden Syndrome Patient.
Nuclear medicine and molecular imagingCowden Syndrome: A Case Series Highlighting Cutaneous and Systemic Diversity.
CureusSevere lupus nephritis in a young adult with PTEN hamartoma tumour syndrome.
BMJ case reportsCowden Syndrome: A Rare Cause of Intestinal Polyposis.
CureusMinimally Invasive Plasma Device Management of Multiple Benign Skin Cancers Associated with Rare Genodermatoses-Case Series and Review of the Therapeutic Methods.
Journal of clinical medicineA New Variant of the PTEN Gene in Relation to Cowden Syndrome Type 1.
Indian journal of dermatologyExperience in a PTEN Hamartoma Tumor Syndrome Expertise Centre: Yield of Thyroid Ultrasound Surveillance in Children with PTEN Hamartoma Tumor Syndrome.
Journal of clinical research in pediatric endocrinologySpinal Dural Arteriovenous Fistulas in a Patient with Cowden Syndrome and a Phosphatase and Tensin Homolog Mutation.
Internal medicine (Tokyo, Japan)Treatment and Diagnostic Approach for Lhermitte-Duclos Disease and Suspected Cowden Syndrome.
CureusLhermitte-Duclos Disease in an Eight-Year-Old Boy: A Case Report.
CureusAnalysis of the loss of phosphatase and tensin homolog expression in thyroid tissue for the diagnosis of Cowden syndrome.
Surgery[Genetic analysis of a Chinese pedigree affected with Cowden syndrome due to variant of PTEN gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsHistopathological phenotyping of cancers in PTEN Hamartoma Tumor Syndrome for improved recognition: A single-center study.
International journal of cancer[Cowden syndrome in a male patient with metachronous triple cancers and various clinical features:a case report].
Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterologyClinical Case of Mild Tatton-Brown-Rahman Syndrome Caused by a Nonsense Variant in DNMT3A Gene.
Clinics and practiceInsights into Clinical Disorders in Cowden Syndrome: A Comprehensive Review.
Medicina (Kaunas, Lithuania)Cowden Syndrome-Oral Finding.
Mayo Clinic proceedingsPediatric Challenges With Cowden Syndrome and Graves' Disease: A Case Report.
CureusExploring the Prevalence of Oral Features for Early Detection of PTEN Hamartoma Tumour Syndrome.
International dental journalCase report: Association between PTEN-gene variant and an aggressive case of multiple dAVFs.
Frontiers in neurologyKnowledge Mapping of Cowden Syndrome: a Bibliometric Analysis.
The Chinese journal of dental researchClinical description of two cases of Cowden syndrome and the implication regarding thyroid cancer.
Endocrinology, diabetes & metabolism case reportsCerebellar phenotypes in germline PTEN mutation carriers.
Neuropathology and applied neurobiologyCerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Clinical geneticsPTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryCase report: Rare oral manifestations in Cowden syndrome with PTEN mutation.
Frontiers in oncologyMultiple bronchial carcinoids associated with Cowden syndrome.
EndocrineGiant cell collagenomas associated with Cowden syndrome: A case report.
Journal of cutaneous pathology[Analysis of clinical features and genetic variant in a child with Cowden syndrome 1].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsCell-free DNA fragmentomics and second malignant neoplasm risk in patients with PTEN hamartoma tumor syndrome.
Cell reports. MedicineCounselling and management of women with genetic predisposition to gynaecological cancers.
European journal of obstetrics, gynecology, and reproductive biologyUtilizing PTEN immunohistochemistry as a screening test for Cowden syndrome.
American journal of clinical pathologyGiant cell collagenoma in a patient with Cowden syndrome: A rare case report and literature review with a focus on the spectrum of sclerotic fibroma and giant cell collagenoma.
Journal of cutaneous pathologyLhermitte-Duclos Disease: A Rare Entity With Typical Histology but Ambiguous Histogenesis.
International journal of surgical pathologyMeningioma getting a common presentation in uncommon Cowden syndrome: A case report.
Journal of neurosciences in rural practiceEarly is Better: Report of a Cowden Syndrome.
Global medical geneticsKidney cancer: Links between hereditary syndromes and sporadic tumorigenesis.
Seminars in diagnostic pathologyFamilial nonmedullary thyroid cancer: a case series in Iranian patients with a meta-review of case series.
Laboratory medicineColorectal Ganglioneuromas Associated with Cowden Syndrome.
Internal medicine (Tokyo, Japan)A rare case of oral squamous cell carcinoma in a patient with Cowden syndrome: Association or coincidence?
Oral oncologyClinical Guidelines for Diagnosis and Management of Cowden Syndrome/PTEN Hamartoma Tumor Syndrome in Children and Adults-Secondary Publication.
Journal of the anus, rectum and colonConcurrent PTEN and PDGFRB Alterations Characterize Storiform Collagenoma.
The American journal of surgical pathologyA New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome-Case Report and Brief Review of the Literature.
GenesMorphea after Silicone Implants.
Acta dermatovenerologica Croatica : ADCIdentification of c.104T>G, p.Met35Arg (NM_00314.8) heterozygous variant in exon 2 of PTEN as the causative factor for Cowden syndrome: a medical case study.
Clinical and experimental dermatologyLhermitte-Duclos disease: A systematic review.
Surgical neurology internationalAnesthetic Management for a Patient with Rosai-Dorfman Disease, Cowden Syndrome, and Lhermitte-Duclos Disease: An Extremely Rare Disease Combination.
CureusLhermitte-Duclos Disease: A Case Series.
CureusOrofacial Manifestations in a Middle-Aged Woman with Cowden Syndrome: A Case Image.
Head and neck pathologyA young female of Cowden syndrome presenting with Lhermitte-Duclos disease: An illustrative case.
Surgical neurology internationalCONGENITAL RETINAL MACROVESSEL AND CAVERNOUS HEMANGIOMA IN COWDEN SYNDROME: A CASE REPORT AND REVIEW OF LITERATURE.
Retinal cases & brief reportsGorlin Syndrome and Cowden Syndrome.
The Keio journal of medicineBrain and/or Spinal Cord Tumors Accompanied with Other Diseases or Syndromes.
Advances in experimental medicine and biologyDiagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature.
BMC medical genomicsCowden Syndrome With Gall Bladder Polyps and Incidental Gall Bladder Carcinoma.
CureusRenal Neoplasia Occurring in Patients With PTEN Hamartoma Tumor Syndrome : Clinicopathologic Study of 12 Renal Cell Carcinomas From 9 Patients and Association With Intrarenal "Lipomas".
The American journal of surgical pathologyNovel dermatological and skeletal features associated with PTEN variant in PTEN hamartoma tumor syndrome.
European journal of medical geneticsAssociation between Cowden syndrome and Lhermitte-Duclos disease: A case report of an uncommon Genetic Hamartomatous Disorder.
Radiology case reportsSquamous Papilloma on the Hard Palate: A Rare Clinical Entity.
CureusEsophageal Manifestations of Dermatological Diseases, Diagnosis and Management.
Current treatment options in gastroenterologyCowden Syndrome Complicated with Thyroid Lesion: A Pediatric Case Report.
Turkish archives of pediatricsThyroid Nodules and Follicular Cell-Derived Thyroid Carcinomas in Children.
Endocrine pathologyA Case of Cowden Syndrome Presenting with Diverse Cutaneous Manifestations.
Annals of dermatologyPTEN hamartoma tumour syndrome: case report based on data from the Iranian hereditary colorectal cancer registry and literature review.
Diagnostic pathologyRefractory Choroidal Neovascularization in a Patient With Pseudoxanthoma Elasticum and Cowden Syndrome.
Journal of vitreoretinal diseasesThyroid pathology, a clue to PTEN hamartoma tumor syndrome.
Journal of pathology and translational medicineSynchronous and metachronous thyroid cancer, breast cancer, and melanoma in a premenopausal patient with Cowden syndrome.
Radiology case reportsHamartomatous polyps: Diagnosis, surveillance, and management.
World journal of gastroenterologyLhermitte-Duclos disease: A series of six cases.
Journal of neurosciences in rural practiceRare Isolated Duodenal Hamartomatous Polyp in an Elderly Patient.
The American journal of case reportsSolitary Sclerotic Fibroma of Right Cerebellopontine Angle.
World neurosurgeryGenetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?
International journal of molecular sciencesA Patient with Transverse Colon Cancer Complicated by Cowden Syndrome Administered FOLFOXIRI + Bevacizumab Therapy.
Case reports in gastroenterologyGIANT MULTINODULAR GOITER IN COWDEN SYNDROME.
Acta endocrinologica (Bucharest, Romania : 2005)Gingival Overgrowths Revealing PTEN Hamartoma Tumor Syndrome: Report of Novel PTEN Pathogenic Variants.
BiomedicinesCancer Risk Associated With PTEN Pathogenic Variants Identified Using Multigene Hereditary Cancer Panel Testing.
JCO precision oncologyClinical and genetic diagnosis of Cowden syndrome: A case report of a rare PTEN germline variant and diverse clinical presentation.
MedicineLhermitte-Duclos Disease Related With Cowden Syndrome Mimicking Metastatic Lung Cancer on FDG PET/CT.
Clinical nuclear medicineStrong Hereditary Predispositions to Colorectal Cancer.
GenesJejunal venous malformations in Cowden syndrome: a case report.
Journal of gastrointestinal and liver diseases : JGLDHereditary breast cancer: syndromes, tumour pathology and molecular testing.
HistopathologyBenign goiters requiring thyroidectomy as the signal for PTEN hamartoma tumor syndrome diagnosis.
American journal of medical genetics. Part ANew Insights into Melanoma Tumor Syndromes.
JID innovations : skin science from molecules to population healthCowden Syndrome Case Report: Use of an Ultrasonic Surgical Aspirator for Cosmetic Removal of Lip Hamartomas.
CureusPure lumbar foraminal cavernous malformation in a patient with Cowden syndrome-a case report.
Journal of spine surgery (Hong Kong)AMBRA1 p.Gln30Arg Mutation, Identified in a Cowden Syndrome Family, Exhibits Hyperproliferative Potential in hTERT-RPE1 Cells.
International journal of molecular sciencesThyroid and renal cancers: A bidirectional association.
Frontiers in oncologyEpilepsy in Cowden syndrome: beyond Lhermitte-Duclos disease.
Acta neurologica BelgicaDiverse imaging findings of Lhermitte-Duclos disease.
Clinical radiologyVerrucous epidermal nevus as a manifestation of a type 2 mosaic PTEN mutation in Cowden syndrome.
Pediatric dermatologyA Case Report of a Sclerotic Fibroma of the Oral Mucosa.
CureusThe surgical resection of dysplastic cerebellar gangliocytoma assisted by intraoperative sonography: illustrative case.
Journal of neurosurgery. Case lessonsCowden Disease: A Review.
The American Journal of dermatopathologySirolimus treatment of a PTEN hamartoma tumor syndrome presenting with melena.
The Turkish journal of pediatricsA progressive and refractory case of breast cancer with Cowden syndrome.
World journal of surgical oncologyA phase II study of TAS-117 in patients with advanced solid tumors harboring germline PTEN-inactivating mutations.
Future oncology (London, England)Coexisting lipomatous meningioma and glioblastoma in Cowden syndrome: A unique tumor association.
Neuropathology : official journal of the Japanese Society of NeuropathologyFamilial and hereditary gastric cancer, an overview.
Best practice & research. Clinical gastroenterologyGiant ovarian cystadenoma in association with Cowden syndrome.
Endokrynologia PolskaMultiple Storiform Collagenomas in the Tracheobronchial Tree of a Patient With a Cowden Syndrome.
Journal of bronchology & interventional pulmonologyLhermitte-Duclos disease (dysplastic cerebellar gangliocytoma) in the setting of cowden syndrome: a case report and literature review on COLD syndrome.
British journal of neurosurgeryCase Report: Duodenal Carcinoma in a 40-Year-Old Asian Man With Cowden Syndrome.
Frontiers in surgeryPTEN and LKB1 are differentially required in Gli1-expressing mesenchymal cells to suppress gastrointestinal polyposis.
Cell reports[Ovarian Carcinosarcoma Associated with Cowden Syndrome-A Case Report].
Gan to kagaku ryoho. Cancer & chemotherapyRecurrent PTPN14 Mutations in Trichilemmoma: Evidence for Distinct Pathways of Molecular Pathogenesis.
The American Journal of dermatopathologyFumarate Hydratase is a Novel Gene for Familial Non-Medullary Thyroid Cancer.
The Journal of clinical endocrinology and metabolismClinicopathologic features of thyroid nodules with PTEN mutations on preoperative testing.
Endocrine-related cancerCatch them if you are aware: PTEN postzygotic mosaicism in clinically suspicious patients with PTEN Hamartoma Tumour Syndrome and literature review.
European journal of medical geneticsRare malignant adnexal tumour of the skin involving distal phalanx of right thumb with co-existing primary lung cancer in a 72-year-old patient: A case report.
International journal of surgery case reportsParesthesias and Weakness of Lower Limbs as Symptomatic Debut of Lhermitte-Duclos Disease.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesHereditary Gynecologic Cancer Syndromes - A Narrative Review.
OncoTargets and therapyCase Report: Acquired collagenoma on the dorsum of the foot.
JPRAS openUpdate from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Familial Tumor Syndromes.
Head and neck pathologyCancer genetics and breast cancer.
Best practice & research. Clinical obstetrics & gynaecologyPancreatic neuroendocrine neoplasms: Updates on genomic changes in inherited tumour syndromes and sporadic tumours based on WHO classification.
Critical reviews in oncology/hematologyHereditary gynecologic tumors and precision cancer medicine.
The journal of obstetrics and gynaecology researchConsiderations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.
Orphanet journal of rare diseasesThyroid Follicular Cell-derived Carcinomas in a Background of Multiple Adenomatous Nodules Leading to a Diagnosis of PTEN Hamartoma Tumor Syndrome in an Adult Patient With a Novel RECQL4 Mutation.
Anticancer researchRare Hereditary Gynecological Cancer Syndromes.
International journal of molecular sciencesDysplastic gangliocytoma of the cerebellum in a cat.
Veterinary pathologyPituitary Carcinoma in a Patient with Cowden Syndrome.
The American journal of case reportsCancer risk and genotype-phenotype correlation in Japanese patients with Cowden syndrome.
International journal of clinical oncologyMedulloblastoma and Cowden syndrome: Further evidence of an association.
Free neuropathologyBrain 18F-FDG PET in Cowden Syndrome.
Clinical nuclear medicineIdentification of a Cowden syndrome patient with a novel PTEN mutation and establishment of patient-derived induced pluripotent stem cells.
In vitro cellular & developmental biology. AnimalImmature teratoma of the ovary associated with Cowden syndrome.
Pediatric blood & cancerImpaired social cognition and fine dexterity in patients with Cowden syndrome associated with germline PTEN variants.
Journal of medical geneticsTumor Syndromes: Neurosurgical Evaluation and Management.
Neurosurgery clinics of North AmericaGastrointestinal polyposis with associated cutaneous manifestations.
PathologyDiffuse Gastrointestinal Polyposis in Bannayan-Riley-Ruvalcaba Syndrome: A Rare Phenotype Among Phosphatase and Tensin Homolog Hamartoma Tumor Syndromes.
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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.
- Epilepsy in pediatric patients with PTEN hamartoma tumor syndrome: First step in recommendations for clinical management.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society· 2026· PMID 41825102mais citado
- Hereditary Endometrial Cancer: Lynch Syndrome, Mismatch Repair Deficiency, and Emerging Genetic Predispositions-A Comprehensive Review with Clinical and Laboratory Guidelines.
- Dysplastic cerebellar gangliocytoma: a six-decade study.
- Cerebellopontine angle SHH-activated embryonal tumor without interaction from the cerebellum in a patient with Cowden syndrome: A case report.
- A Successful Live Birth After Double Fertility Preservation With Embryo Cryopreservation and MPA Therapy Combined With Hysteroscopic Resection for Metachronous Breast and Endometrial Cancer in Women With Cowden Syndrome: A Case Report.
- Remarkable response of metaplastic breast cancer to a novel targeted AKT inhibitor TAS-117 in a Cowden syndrome patient: a case report.
- Cowden syndrome gastrointestinal polyposis.
- An intriguing journey into the hereditary syndromes predisposing to endometrial cancer: more than believed.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:201(Orphanet)
- MONDO:0016063(MONDO)
- GARD:6202(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1138188(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
