É uma doença genética hereditária (que passa de pais para filhos), com causas genéticas e manifestações clínicas variadas. É caracterizada por inchaço nas pontas dos dedos das mãos e pés (conhecido como "baqueteamento digital") e problemas nos ossos e articulações. Pode também apresentar, de forma variável, espessamento da pele (pachydermia), fechamento tardio das moleiras e doenças cardíacas congênitas (presentes desde o nascimento). Existem dois tipos de PHO: paquidermoperiostose e cranio-osteoartropatia.
Introdução
O que você precisa saber de cara
É uma doença genética hereditária (que passa de pais para filhos), com causas genéticas e manifestações clínicas variadas. É caracterizada por inchaço nas pontas dos dedos das mãos e pés (conhecido como "baqueteamento digital") e problemas nos ossos e articulações. Pode também apresentar, de forma variável, espessamento da pele (pachydermia), fechamento tardio das moleiras e doenças cardíacas congênitas (presentes desde o nascimento). Existem dois tipos de PHO: paquidermoperiostose e cranio-osteoartropatia.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 28 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 73 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
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Catalyzes the NAD-dependent dehydrogenation (oxidation) of a broad array of hydroxylated polyunsaturated fatty acids (mainly eicosanoids and docosanoids, including prostaglandins, lipoxins and resolvins), yielding their corresponding keto (oxo) metabolites (PubMed:10837478, PubMed:16757471, PubMed:16828555, PubMed:21916491, PubMed:25586183, PubMed:8086429). Decreases the levels of the pro-proliferative prostaglandins such as prostaglandin E2 (whose activity is increased in cancer because of an i
Cytoplasm
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
A disease characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and variable features of pachydermia that include thickened facial skin and a thickened scalp. Other developmental anomalies include delayed closure of the cranial sutures and congenital heart disease.
Mediates the transport of prostaglandins (PGs, mainly PGE2, PGE1, PGE3, PGF2alpha, PGD2, PGH2) and thromboxanes (thromboxane B2) across the cell membrane (PubMed:11997326, PubMed:26692285, PubMed:8787677). PGs and thromboxanes play fundamental roles in diverse functions such as intraocular pressure, gastric acid secretion, renal salt and water transport, vascular tone, and fever (PubMed:15044627). Plays a role in the clearance of PGs from the circulation through cellular uptake, which allows cyt
Cell membraneBasal cell membraneCytoplasmLysosome
PHOAR2-enteropathy syndrome
An autosomal recessive disease characterized by primary hypertrophic osteoarthropathy and/or chronic non-specific ulcers of the small intestine. Affected individuals present with digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and variable features of pachydermia that include thickened facial skin and a thickened scalp. Chronic ulcers of the small intestine result in abdominal pain and watery diarrhea, and are associated with chronic anemia. Other developmental anomalies include delayed closure of the cranial sutures and congenital heart disease.
Variantes genéticas (ClinVar)
184 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
6 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 — Osteoartropatia hipertrófica primária
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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
Pesquisa e ensaios clínicos
1 ensaios clínicos encontrados.
Publicações mais relevantes
Myelofibrosis as a Presenting Manifestation of Primary Hypertrophic Osteoarthropathy.
A 23-year-old man presented with worsening fatigue, coarse facial features, digital clubbing, and splenomegaly. Laboratory tests revealed severe anemia and bone marrow fibrosis. Genetic analysis identified a pathogenic mutation in the SLCO2A1 gene, confirming a diagnosis of autosomal recessive primary hypertrophic osteoarthropathy type 2 (PHOAR2). Treatment with Etoricoxib, a COX-2 inhibitor, led to gradual improvements in fatigue, reduction of spleen size, and increased hemoglobin levels over six months. This case highlights the association between elevated prostaglandin E2 levels and myelofibrosis in PHOAR2, emphasizing the potential of COX-2 inhibitors in managing symptoms.
Hypertophic osteoarthropathy and clubbing: the role of prostaglandin E2.
Genomic studies support the role of Prostaglandin E2 (PGE2) in the pathogenesis of primary Hypertrophic Osteoarthropathy (HOA), with mutations in the 15-hydroxyprostaglandin dehydrogenase encoding gene resulting in increased PGE2 levels. The aim of this study was to analyse the clinical characteristics, comorbidities, and potential role of PGE2 in primary and secondary forms of HOA and/or digital clubbing. Twenty-two patients (14 men/8 women) aged 15- to 78-years (50.8 ± 14.7) diagnosed with clubbing and/or HOA attended the Rheumatology Department for over 15-years. The authors reviewed the clinical characteristics of the patients, including associated comorbidities, image findings, Bone Turnover Markers (BTM), serum and urinary levels of PGE2, treatment, and the clinical evolution of these subjects. Most patients presented associated clinical conditions for HOA and/or clubbing, with only one, the youngest (15-years old), having primary HOA. Pulmonary disorders constituted the most frequent associated condition. All the subjects evaluated (18/22) presented increased urinary PGE2 levels, with most also presenting increased serum PGE2 values. BTM were assessed in most subjects (21/22), showing increased values in most (15/21), particularly in PINP and CTX. Eight patients were treated with selective inhibitors of Cyclooxygenase-2 (COX-2), improving their symptoms. All subjects with primary or secondary HOA and/or clubbing of the series presented increased PGE2 values, particularly in urine, supporting the role of this mediator in the etiopathogenesis of this disorder. When the treatment of the associated condition is not possible, the use of COX-2 seems to be an effective symptomatic therapeutic approach in this entity.
Primary hypertrophic osteoarthropathy presenting with ptosis and floppy eyelids: a review of ophthalmic manifestations, histopathology, and pathophysiology.
To review ophthalmic manifestations, histopathological features, and pathophysiology of primary hypertrophic osteoarthropathy (PHOA). A comprehensive PubMed/Medline search was conducted to identify all articles reporting ophthalmic manifestations in PHOA. The authors highlight an additional case presenting with severe blepharoptosis, floppy and lax eyelids, and meibomian gland dysfunction (MGD). Twenty-six cases of PHOA with ophthalmic manifestations were evaluated. All cases were in males with a higher prevalence in Indians (23%), Hispanics (19%), and those of African descent (19%). The most common ocular manifestation was blepharoptosis (96%), followed by papillary conjunctivitis (46%), floppy eyelids (38%), eyelid imbrication (35%), enlarged tarsal plates (27%), lid laxity (23%), eyelid ectropion (23%), and meibomian gland dysfunction (15%). Histologically, sebaceous gland hyperplasia was most commonly described (72%), followed by inflammatory infiltrates (50%), tarsal plate fibrosis or thickening (44%), mucin deposition (28%), and alterations in elastin fibers (11%). The clinical histological features of PHOA are due to pathogenic elevation of PGE2 due to mutations in the HPGD and SLCO2A1 genes leading to upregulation of matrix metalloproteinase (MMP) and vascular endothelial growth factor (VEGF). In this review, two patients carried a homogenous mutation in the SLCO2A1 gene. Management is surgical, but tetracyclines in the peri-operative period can reduce tissue inflammation. Hormonal, inflammatory, and mechanical factors related to prostaglandin-E2 overexpression, and its influence on various cytokines are at the center of disease pathogenesis in PHOA, manifesting with hypertrophic, lax, floppy eyelids. Further studies targeting disease specific cytokines, VEGF and MMP are needed to explore additional medical therapies.
From Juvenile Idiopathic Arthritis to Pachydermoperiostosis: A Journey to an Unexpected Rare Diagnosis.
Pachydermoperiostosis, also known as primary hypertrophic osteoarthropathy or Touraine-Solente-Golé syndrome, is a rare genetic disorder that represents a small fraction of hypertrophic osteoarthropathy cases. It typically begins during adolescence, affects males more frequently and follows either an autosomal dominant or recessive inheritance pattern. The disease is characterized by the triad of pachydermia, periostosis and digital clubbing, often accompanied by hyperhidrosis, seborrhea, cutis verticis gyrata and joint effusions. Although articular involvement is usually non-erosive, the disorder may mimic inflammatory arthritis and lead to diagnostic delays. Recognition of the major and minor diagnostic criteria is crucial to distinguish PDP from secondary forms related to pulmonary, cardiac or neoplastic disease.
When it's not juvenile idiopathic arthritis: unmasking monogenic mimickers in children monogenic mimickers of chronic arthritis.
Chronic arthritis in children is widely associated with juvenile idiopathic arthritis (JIA); however, several rare monogenic disorders may mimic its clinical presentation. Misdiagnosis can result in unnecessary immunosuppressive treatment and delay appropriate care. This study aimed to share our experience with monogenic disorders presenting as chronic arthritis and highlight their distinguishing clinical and imaging features. This retrospective cohort study included patients initially suspected of having JIA who were later diagnosed with a monogenic disorder. Clinical, laboratory, imaging, and genetic data were also collected and evaluated. Among the 25 patients, the most frequent diagnoses were progressive pseudorheumatoid dysplasia (PPRD; n = 12) and camptodactyly arthropathy-coxa vara-pericarditis (CACP) syndrome (n = 8). Other diagnoses included mucolipidosis type III gamma, primary hypertrophic osteoarthropathy (PHO), and multicentric carpotarsal osteolysis (MCTO). While all PPRD and CACP patients had biallelic pathogenic variants in CCN6 and PRG4, respectively, PHO and MCTO were associated with monoallelic mutations. Common misdiagnoses included polyarticular JIA, leading to the inappropriate use of methotrexate or biologic agents. Several monogenic disorders can mimic JIA in pediatric patients, leading to diagnostic challenges. Clinical features, such as camptodactyly, skeletal deformities, digital clubbing, median nerve neuropathy, and poor response to treatment should prompt further evaluation, including genetic testing. Increased awareness and early recognition of these conditions are crucial to avoid unnecessary immunosuppression and improve patient outcomes. • Several rare monogenic disorders can clinically mimic JIA and misdiagnosis of these monogenic mimickers may lead to inappropriate immunosuppressive treatment and delayed appropriate care. • This study presents a real-world single-center data that systematically characterizes five distinct monogenic disorders mimicking JIA. • Findings emphasize the importance of early suspicion, especially in cases with symmetrical interphalangeal involvement (PPRD), camptodactyly with hip deformity (CACP), or osteolysis with renal/facial anomalies (MCTO), to avoid unnecessary immunosuppression.
Publicações recentes
Hypertophic osteoarthropathy and clubbing: the role of prostaglandin E2.
Primary hypertrophic osteoarthropathy presenting with ptosis and floppy eyelids: a review of ophthalmic manifestations, histopathology, and pathophysiology.
From Juvenile Idiopathic Arthritis to Pachydermoperiostosis: A Journey to an Unexpected Rare Diagnosis.
Pachydermoperiostosis Presenting With Gynecomastia and Low Insulin-Like Growth Factor-1 Levels: A Diagnostic Challenge.
Myelofibrosis as a Presenting Manifestation of Primary Hypertrophic Osteoarthropathy.
📚 EuropePMC148 artigos no totalmostrando 119
Hypertophic osteoarthropathy and clubbing: the role of prostaglandin E2.
Clinics (Sao Paulo, Brazil)Primary hypertrophic osteoarthropathy presenting with ptosis and floppy eyelids: a review of ophthalmic manifestations, histopathology, and pathophysiology.
Orbit (Amsterdam, Netherlands)From Juvenile Idiopathic Arthritis to Pachydermoperiostosis: A Journey to an Unexpected Rare Diagnosis.
Journal of clinical medicinePachydermoperiostosis Presenting With Gynecomastia and Low Insulin-Like Growth Factor-1 Levels: A Diagnostic Challenge.
CureusMyelofibrosis as a Presenting Manifestation of Primary Hypertrophic Osteoarthropathy.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionA Rare Case of Primary Hypertrophic Osteoarthropathy Secondary to SLCO2A1 Gene Mutation.
The Journal of the Association of Physicians of IndiaWhen it's not juvenile idiopathic arthritis: unmasking monogenic mimickers in children monogenic mimickers of chronic arthritis.
European journal of pediatricsPachydermoperiostosis Associated With a Rare SLCO2A1 Mutation: A Case Report and Literature Review.
CureusStructure and transport mechanism of the human prostaglandin transporter SLCO2A1.
Nature communicationsGenotype-Phenotype Correlation Insights in a Rare Case Presenting with Multiple Osteodysplastic Syndromes.
GenesA Loss-of-Function Variant Causing Primary Autosomal Recessive Hypertrophic Osteoarthropathy.
CureusGenetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey.
American journal of medical genetics. Part AFamilial complete pachydermoperiostosis presenting with vertebral hypertrophy and myelopathy.
JBMR plusDistinct features of three clinical subtypes in 533 patients with primary hypertrophic osteoarthropathy.
Orphanet journal of rare diseasesPrimary Hypertrophic Osteoarthropathy-A Rare Cause of Joint Pain.
The Journal of the Association of Physicians of IndiaInsights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.
Calcified tissue internationalHistory of primary hypertrophic osteoarthropathy.
Clinical rheumatologyPrimary hypertrophic osteoarthropathy: phenotypic variability and penetrance rate in heterozygotes for SLCO2A1 variants.
JBMR plusTwo cases of primary hypertrophic osteoarthropathy caused by HPGD variants: a case report and literature review.
BMC pediatricsInflammatory polyarthritis unmasking primary hypertrophic osteoarthropathy: spotlight on compound heterozygous HPGD mutations.
QJM : monthly journal of the Association of PhysiciansEndocrine Alterations in Patients With Pachydermoperiostosis.
The Journal of clinical endocrinology and metabolismClubbing of Fingers and Nails in Primary Hypertrophic Osteoarthropathy Type 1.
Deutsches Arzteblatt internationalA Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression.
American journal of medical genetics. Part ATargeting Metabolomics in Primary Hypertrophic Osteoarthropathy: Uncovering Novel Insights into Disease Pathogenesis.
The Journal of clinical endocrinology and metabolismAn Unusual Case of Gastric Multiple Lesions With Skin and Joint Abnormalities.
Gastroenterology[Genetic analysis of a child with Primary hypertrophic osteoarthropathy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsInflammatory Granulomas, Accompanied by Mild Proliferation of Spinous Layer in Primary Hypertrophic Osteoarthropathy.
Indian journal of pediatricsA novel variant in the SLCO2A1 gene in a Chinese patient with chronic gastroenteropathy and primary hypertrophic osteoarthropathy.
Orphanet journal of rare diseasesClinical and genetic characteristics of Chinese patients diagnosed with chronic enteropathy associated with SLCO2A1 gene.
Orphanet journal of rare diseasesComprehensive Treatment of a Rare Case of Complete Primary Pachydermoperiostosis with Large Facial Keloid Scars: A Case Report and Literature Review.
Case reports in dermatologyPachydermoperiostosis combined with pyloric gland adenoma with foveolar-type adenoma.
United European gastroenterology journalGenotype and phenotype characterization of primary hypertrophic osteoarthropathy type 2 and chronic enteropathy associated with SLCO2A1: Report of two cases and literature review.
American journal of medical genetics. Part APrimary hypertrophic osteoarthropathy: genetics, clinical features and management.
Frontiers in endocrinologyA novel compound mutation of SLCO2A1 in a Chinese patient with Primary hypertrophic osteoarthropathy.
Indian journal of dermatology, venereology and leprologyReclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy.
Cold Spring Harbor molecular case studiesTouraine-Solente-Gole syndrome: pathogenic variant in SLCO2A1 presented with polyarthralgia and digital clubbing.
Pediatric rheumatology online journalComparison of bone microstructure and strength in the distal radius and tibia between the different types of primary hypertrophic osteoarthropathy: an HR-pQCT study.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USACase report: Novel homozygous HPGD variant leads to primary hypertrophic osteoarthropathy with intussusception and acro-osteolysis in a Chinese family.
Frontiers in pediatricsPrimary hypertrophic osteoarthropathy - a rare cause of pain and arthritis in children. Description of 5 cases.
Central-European journal of immunologyPrimary pachydermoperiostosis associated with pigmented villonodular synovitis: An unknown association?
International journal of rheumatic diseasesPalmoplantar keratoderma and digital clubbing in 2 sisters with hypertrophic osteoarthropathy.
JAAD case reportsEtoricoxib as a treatment of choice for patients with SLCO2A1 mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy: A case report.
Frontiers in geneticsNovel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy.
European journal of medical geneticsChronic enteropathy associated with SLCO2A1 gene and hereditary fructose intolerance: A coincidence of two rare diseases.
Arab journal of gastroenterology : the official publication of the Pan-Arab Association of GastroenterologyPrimary Hypertrophic Osteoarthropathy With Myelofibrosis.
CureusPrimary hypertrophic osteoarthropathy and bilateral transient lateral patellar dislocation in an adolescent.
BJR case reportsChronic enteropathy associated with SLCO2A1-associated primary hypertrophic osteoarthropathy in a female patient.
Clinics and research in hepatology and gastroenterologyCoincidence of pachydermoperiostosis and synovitis, acne, pustulosis, hyperostosis, osteitis syndrome, a causal or casual association?
International journal of rheumatic diseasesClinical and biochemical characteristics of 12 Chinese primary hypertrophic osteoarthropathy patients with HPGD mutations.
International journal of biological sciencesDigital clubbing, joint pain, and skin changes in a young man: primary hypertrophic osteoarthropathy.
Clinical rheumatologyClinical and Genetic Characteristics of Korean Patients Diagnosed with Chronic Enteropathy Associated with SLCO2A1 Gene: A KASID Multicenter Study.
Gut and liverGastrointestinal Multiple Adenomas in Primary Hypertrophic Osteoarthropathy.
Mayo Clinic proceedingsPrimary Hypertrophic Osteoarthropathy.
The New England journal of medicineA rare helicobacter pylori infection-negative early gastric cancer in a young man with primary hypertrophic osteoarthropathy.
EndoscopyBone Geometry, Density, Microstructure, and Biomechanical Properties in the Distal Tibia in Patients With Primary Hypertrophic Osteoarthropathy Assessed by Second-Generation High-Resolution Peripheral Quantitative Computed Tomography.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchLost bones: differential diagnosis of acro-osteolysis seen by the pediatric rheumatologist.
Pediatric rheumatology online journalMultiple small intestinal ulcers with SLCO2A1 and PLA2G4A mutation in a Chinese patient.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the LiverDifferential Diagnosis of Acromegaly: Pachydermoperiostosis Two New Cases from Turkey.
Journal of clinical research in pediatric endocrinologyMonoallelic mutations in SLCO2A1 cause autosomal dominant primary hypertrophic osteoarthropathy.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchSLCO2A1 gene is the causal gene for both primary hypertrophic osteoarthropathy and hereditary chronic enteropathy.
Journal of orthopaedic translationEstablishment of a novel human iPSC line (SDQLCHi032-A) derived from a patient with primary hypertrophic osteoarthropathy caused by HPGD homozygous mutation.
Stem cell researchRecent advances in studies of SLCO2A1 as a key regulator of the delivery of prostaglandins to their sites of action.
Pharmacology & therapeutics[Clinical and genetic characteristics of patients with chronic enteropathy associated with SLCO2A1 gene].
Zhonghua nei ke za zhiCharacterization of Mineral and Bone Metabolism Biomarkers in a Chinese Consanguineous Twin Family with Primary Hypertrophic Osteoarthropathy.
International journal of endocrinologyPrimary hypertrophic osteoarthropathy with severe arthralgia identified by gene mutation of SLCO2A1.
Modern rheumatology case reports[Primary hypertrophic osteoarthropathy with renal hypokalemia: a case report].
Zhonghua nei ke za zhiDiagnosis and Management of a Patient With Primary Hypertrophic Osteoarthropathy With SCLO2A1 Pathogenic Variants in Vietnam.
Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseasesPachydermoperiostosis: Classic Presentation of a Rare Disease.
Mediterranean journal of rheumatologyIncomplete primary hypertrophic osteoarthropathy.
BMJ case reportsDigital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families.
Clinical dysmorphologyRheumatoid Arthritis-Associated Interstitial Lung Disease.
The American journal of the medical sciencesComplete form of pachydermoperiostosis.
Anais brasileiros de dermatologiaPrimary hypertrophic osteoarthropathy related gastrointestinal complication has distinctive clinical and pathological characteristics: two cases report and review of the literature.
Orphanet journal of rare diseasesA case of primary hypertrophic osteoarthropathy: Management considerations.
International journal of rheumatic diseasesImpaired bone microarchitecture in distal interphalangeal joints in patients with primary hypertrophic osteoarthropathy assessed by high-resolution peripheral quantitative computed tomography.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USACharacteristic Facial Appearance Was the Key to Diagnosing Chronic Enteropathy Associated with SLCO2A1-associated Primary Hypertrophic Osteoarthropathy.
Internal medicine (Tokyo, Japan)A patient with stimulator of interferon genes-associated vasculopathy with onset in infancy without skin vasculopathy.
Rheumatology (Oxford, England)Safety and efficacy of cyclooxygenase-2 inhibition for treatment of primary hypertrophic osteoarthropathy: A single-arm intervention trial.
Journal of orthopaedic translationGraves Disease Presenting With Advanced Orbitopathy and Acropachy.
Ophthalmic plastic and reconstructive surgeryPrimary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging Findings.
Cytogenetic and genome researchThe first case of primary hypertrophic osteoarthropathy with soft tissue giant tumors caused by HPGD loss-of-function mutation.
Endocrine connectionsNovel SLCO2A1compound heterozygous mutation causing primary hypertrophic osteoarthropathy with Bartter-like hypokalemia in a Chinese family.
Journal of endocrinological investigationExogenous lipoid pneumonia in children: A systematic review.
Paediatric respiratory reviewsPachydermoperiostosis (Touraine-Solente-Gole syndrome): a case report.
Journal of medical case reportsA male Korean who was diagnosed with chronic enteropathy associated with SLCO2A1 (CEAS): case report with literature review.
BMJ open gastroenterologyNovel SLCO2A1 mutations cause gender-differentiated pachydermoperiostosis.
Endocrine connectionsTargeted exome sequencing identified a novel mutation hotspot and a deletion in Chinese primary hypertrophic osteoarthropathy patients.
Clinica chimica acta; international journal of clinical chemistry[Two cases of primary hypertrophic osteoarthropathy with SLCO2A1 gene mutations].
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesPrimary hypertrophic osteoarthropathy: Report of two novel genetic variants in the SLCO2A1 gene in two Mexican patients.
Indian journal of dermatology, venereology and leprologyIdiopathic pulmonary fibrosis: a clinical update.
The British journal of general practice : the journal of the Royal College of General PractitionersA novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment.
American journal of medical genetics. Part A[Identification of a HPGD mutation in three families affected with primary hypertrophic osteoarthropathy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsIncomplete form of Primary Hypertrophic Osteoarthropathy (Touraine-Solente-Gole Syndrome) Masquerading as Polyartrhalgia Diagnosed in Technetium-99m-Methylene Diphosphonate Scintigraphy: An Interesting Case Report.
Indian journal of nuclear medicine : IJNM : the official journal of the Society of Nuclear Medicine, IndiaPachydermoperiostosis in a patient with chronic hepatitis B virus infection referred as acromegaly: a case report.
Journal of medical case reportsClinical features of chronic enteropathy associated with SLCO2A1 gene: a new entity clinically distinct from Crohn's disease.
Journal of gastroenterologyEffectiveness of non-steroidal anti-inflammatory drugs among patients with primary hypertrophic osteoarthropathy: A systematic review.
Journal of dermatological science[A boy with digital clubbing].
Nederlands tijdschrift voor geneeskundeA novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family.
Annals of human geneticsPrimary Hypertrophic Osteoarthropathy With SLCO2A1 Mutation in a Chinese Patient Successfully Treated With Etoricoxib.
Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseasesPolyarthritis is a Rare Manifestation of Pachydermoperiostosis: A Case Report.
Mymensingh medical journal : MMJRoles of Organic Anion Transporting Polypeptide 2A1 (OATP2A1/SLCO2A1) in Regulating the Pathophysiological Actions of Prostaglandins.
The AAPS journalTouraine-Solente-Gole syndrome.
Orbit (Amsterdam, Netherlands)Identification of mutations in the prostaglandin transporter gene SLCO2A1 and phenotypic comparison between two subtypes of primary hypertrophic osteoarthropathy (PHO): A single-center study.
BonePrimary hypertrophic osteoarthropathy due to a novel SLCO2A1 mutation masquerading as acromegaly.
Endocrinology, diabetes & metabolism case reportsClinical, Biochemical, and Genetic Features of 41 Han Chinese Families With Primary Hypertrophic Osteoarthropathy, and Their Therapeutic Response to Etoricoxib: Results From a Six-Month Prospective Clinical Intervention.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchIdentification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy.
Molecular medicine reports[Genetic analysis of a pedigree with primary hypertrophic osteoarthropathy].
Zhonghua nei ke za zhiPrimary Idiopathic Osteoarthropathy: Could It Be Related to Alcoholism?
Case reports in rheumatologyExtramedullary hematopoiesis with spinal cord compression in pachydermoperiostosis.
Joint bone spineA rare cause of finger clubbing : Pachydermoperiostosis.
La Tunisie medicaleIdentification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis.
Journal of Korean medical sciencePrimary hypertrophic osteoarthropathy: ultrasound and MRI findings.
Pediatric radiologyPrimary Hypertrophic Osteoarthropathy: An Update on Patient Features and Treatment.
The Journal of rheumatology[55-year old man with dyspnea].
Deutsche medizinische Wochenschrift (1946)A Common Mutation and a Novel Mutation in the HPGD Gene in Nine Patients with Primary Hypertrophic Osteoarthropathy.
Calcified tissue international[Genetic diagnosis for a Chinese Han family with primary hypertrophic osteoarthropathy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsPrimary hypertrophic osteoarthropathy with myelofibrosis and anemia: a case report and review of literature.
International journal of clinical and experimental medicineInvolvement of prostaglandin E2 in the first Japanese case of pachydermoperiostosis with HPGD mutation and recalcitrant leg ulcer.
Journal of dermatological scienceA novel homozygous mutation in the SLCO2A1 gene is associated with severe primary hypertrophic osteoarthropathy phenotype in a Saudi patient.
International journal of dermatologyAssociações
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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.
- Myelofibrosis as a Presenting Manifestation of Primary Hypertrophic Osteoarthropathy.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion· 2026· PMID 41522567mais citado
- Hypertophic osteoarthropathy and clubbing: the role of prostaglandin E2.
- Primary hypertrophic osteoarthropathy presenting with ptosis and floppy eyelids: a review of ophthalmic manifestations, histopathology, and pathophysiology.
- From Juvenile Idiopathic Arthritis to Pachydermoperiostosis: A Journey to an Unexpected Rare Diagnosis.
- When it's not juvenile idiopathic arthritis: unmasking monogenic mimickers in children monogenic mimickers of chronic arthritis.
- Pachydermoperiostosis Presenting With Gynecomastia and Low Insulin-Like Growth Factor-1 Levels: A Diagnostic Challenge.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:248095(Orphanet)
- MONDO:0016620(MONDO)
- GARD:20667(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1641153(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
