Raras
Buscar doenças, sintomas, genes...
Osteoartropatia hipertrófica primária
ORPHA:248095DOENÇA RARA

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.

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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.

Publicações científicas
218 artigos
Último publicado: 2026 Mar 21

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Infancy
+ neonatal
🏥
SUS: Sem cobertura SUSScore: 0%
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦴
Ossos e articulações
23 sintomas
🧬
Pele e cabelo
8 sintomas
🫃
Digestivo
4 sintomas
📏
Crescimento
2 sintomas
😀
Face
2 sintomas
🧠
Neurológico
1 sintomas

+ 28 sintomas em outras categorias

Características mais comuns

Osteólise
Escoliose
Hepatomegalia
Concentração elevada de hormônio do crescimento circulante
Quantidade anormal de cabelo
Padrão anormal do cabelo
73sintomas
Sem dados (73)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 73 características clínicas mais associadas, ordenadas por frequência.

OsteóliseOsteolysis
EscolioseScoliosis
HepatomegaliaHepatomegaly
Concentração elevada de hormônio do crescimento circulanteElevated circulating growth hormone concentration
Quantidade anormal de cabeloAbnormal hair quantity

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico218PubMed
Últimos 10 anos119publicações
Pico202520 papers
Linha do tempo
2026Hoje · 2026🧪 2012Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

HPGD15-hydroxyprostaglandin dehydrogenase [NAD(+)]Disease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Cytoplasm

VIAS BIOLÓGICAS (4)
Synthesis of Prostaglandins (PG) and Thromboxanes (TX)Biosynthesis of Lipoxins (LX)Biosynthesis of D-series resolvinsBiosynthesis of E-series 18(S)-resolvins
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Vagina
63.0 TPM
Pulmão
51.5 TPM
Esôfago - Mucosa
45.0 TPM
Skin Sun Exposed Lower leg
37.6 TPM
Cólon transverso
35.1 TPM
INTERAÇÕES PROTEICAS (4)
OUTRAS DOENÇAS (4)
hypertrophic osteoarthropathy, primary, autosomal recessive, 1isolated congenital digital clubbingcranio-osteoarthropathyprimary hypertrophic osteoarthropathy
HGNC:5154UniProt:P15428
SLCO2A1Solute carrier organic anion transporter family member 2A1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Cell membraneBasal cell membraneCytoplasmLysosome

VIAS BIOLÓGICAS (1)
Organic anion transport by SLCO transporters
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Pulmão
251.0 TPM
Tireoide
208.3 TPM
Útero
95.0 TPM
Cervix Endocervix
69.9 TPM
Próstata
68.2 TPM
INTERAÇÕES PROTEICAS (2)
OUTRAS DOENÇAS (4)
hypertrophic osteoarthropathy, primary, autosomal dominanthypertrophic osteoarthropathy, primary, autosomal recessive, 2chronic enteropathy associated with SLCO2A1 geneprimary hypertrophic osteoarthropathy
HGNC:10955UniProt:Q92959

Variantes genéticas (ClinVar)

184 variantes patogênicas registradas no ClinVar.

🧬 HPGD: GRCh38/hg38 4q32.1-35.2(chr4:157628420-189863176)x1 ()
🧬 HPGD: NM_000860.6(HPGD):c.2T>C (p.Met1Thr) ()
🧬 HPGD: GRCh37/hg19 4q32.1-35.2(chr4:161355371-190957473)x3 ()
🧬 HPGD: NM_000860.6(HPGD):c.453T>G (p.Tyr151Ter) ()
🧬 HPGD: NM_000860.6(HPGD):c.421+1G>T ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 31
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
Carregando informações de tratamento...

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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Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

1 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
111 papers (10 anos)
#1

Myelofibrosis as a Presenting Manifestation of Primary Hypertrophic Osteoarthropathy.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion2026 Jan

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.

#2

Hypertophic osteoarthropathy and clubbing: the role of prostaglandin E2.

Clinics (Sao Paulo, Brazil)2026 Mar 21

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.

#3

Primary hypertrophic osteoarthropathy presenting with ptosis and floppy eyelids: a review of ophthalmic manifestations, histopathology, and pathophysiology.

Orbit (Amsterdam, Netherlands)2026 Feb 20

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.

#4

From Juvenile Idiopathic Arthritis to Pachydermoperiostosis: A Journey to an Unexpected Rare Diagnosis.

Journal of clinical medicine2026 Jan 24

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.

#5

When it's not juvenile idiopathic arthritis: unmasking monogenic mimickers in children monogenic mimickers of chronic arthritis.

European journal of pediatrics2025 Nov 25

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

Ver todas no PubMed

📚 EuropePMC148 artigos no totalmostrando 119

2026

Hypertophic osteoarthropathy and clubbing: the role of prostaglandin E2.

Clinics (Sao Paulo, Brazil)
2026

Primary hypertrophic osteoarthropathy presenting with ptosis and floppy eyelids: a review of ophthalmic manifestations, histopathology, and pathophysiology.

Orbit (Amsterdam, Netherlands)
2026

From Juvenile Idiopathic Arthritis to Pachydermoperiostosis: A Journey to an Unexpected Rare Diagnosis.

Journal of clinical medicine
2025

Pachydermoperiostosis Presenting With Gynecomastia and Low Insulin-Like Growth Factor-1 Levels: A Diagnostic Challenge.

Cureus
2026

Myelofibrosis as a Presenting Manifestation of Primary Hypertrophic Osteoarthropathy.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2025

A Rare Case of Primary Hypertrophic Osteoarthropathy Secondary to SLCO2A1 Gene Mutation.

The Journal of the Association of Physicians of India
2025

When it's not juvenile idiopathic arthritis: unmasking monogenic mimickers in children monogenic mimickers of chronic arthritis.

European journal of pediatrics
2025

Pachydermoperiostosis Associated With a Rare SLCO2A1 Mutation: A Case Report and Literature Review.

Cureus
2025

Structure and transport mechanism of the human prostaglandin transporter SLCO2A1.

Nature communications
2025

Genotype-Phenotype Correlation Insights in a Rare Case Presenting with Multiple Osteodysplastic Syndromes.

Genes
2025

A Loss-of-Function Variant Causing Primary Autosomal Recessive Hypertrophic Osteoarthropathy.

Cureus
2025

Genetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey.

American journal of medical genetics. Part A
2025

Familial complete pachydermoperiostosis presenting with vertebral hypertrophy and myelopathy.

JBMR plus
2025

Distinct features of three clinical subtypes in 533 patients with primary hypertrophic osteoarthropathy.

Orphanet journal of rare diseases
2025

Primary Hypertrophic Osteoarthropathy-A Rare Cause of Joint Pain.

The Journal of the Association of Physicians of India
2025

Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.

Calcified tissue international
2025

History of primary hypertrophic osteoarthropathy.

Clinical rheumatology
2025

Primary hypertrophic osteoarthropathy: phenotypic variability and penetrance rate in heterozygotes for SLCO2A1 variants.

JBMR plus
2025

Two cases of primary hypertrophic osteoarthropathy caused by HPGD variants: a case report and literature review.

BMC pediatrics
2025

Inflammatory polyarthritis unmasking primary hypertrophic osteoarthropathy: spotlight on compound heterozygous HPGD mutations.

QJM : monthly journal of the Association of Physicians
2025

Endocrine Alterations in Patients With Pachydermoperiostosis.

The Journal of clinical endocrinology and metabolism
2024

Clubbing of Fingers and Nails in Primary Hypertrophic Osteoarthropathy Type 1.

Deutsches Arzteblatt international
2025

A 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 A
2025

Targeting Metabolomics in Primary Hypertrophic Osteoarthropathy: Uncovering Novel Insights into Disease Pathogenesis.

The Journal of clinical endocrinology and metabolism
2025

An Unusual Case of Gastric Multiple Lesions With Skin and Joint Abnormalities.

Gastroenterology
2024

[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 genetics
2024

Inflammatory Granulomas, Accompanied by Mild Proliferation of Spinous Layer in Primary Hypertrophic Osteoarthropathy.

Indian journal of pediatrics
2024

A novel variant in the SLCO2A1 gene in a Chinese patient with chronic gastroenteropathy and primary hypertrophic osteoarthropathy.

Orphanet journal of rare diseases
2024

Clinical and genetic characteristics of Chinese patients diagnosed with chronic enteropathy associated with SLCO2A1 gene.

Orphanet journal of rare diseases
2024

Comprehensive Treatment of a Rare Case of Complete Primary Pachydermoperiostosis with Large Facial Keloid Scars: A Case Report and Literature Review.

Case reports in dermatology
2024

Pachydermoperiostosis combined with pyloric gland adenoma with foveolar-type adenoma.

United European gastroenterology journal
2024

Genotype 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 A
2023

Primary hypertrophic osteoarthropathy: genetics, clinical features and management.

Frontiers in endocrinology
2023

A novel compound mutation of SLCO2A1 in a Chinese patient with Primary hypertrophic osteoarthropathy.

Indian journal of dermatology, venereology and leprology
2023

Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy.

Cold Spring Harbor molecular case studies
2023

Touraine-Solente-Gole syndrome: pathogenic variant in SLCO2A1 presented with polyarthralgia and digital clubbing.

Pediatric rheumatology online journal
2023

Comparison 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 USA
2023

Case report: Novel homozygous HPGD variant leads to primary hypertrophic osteoarthropathy with intussusception and acro-osteolysis in a Chinese family.

Frontiers in pediatrics
2022

Primary hypertrophic osteoarthropathy - a rare cause of pain and arthritis in children. Description of 5 cases.

Central-European journal of immunology
2023

Primary pachydermoperiostosis associated with pigmented villonodular synovitis: An unknown association?

International journal of rheumatic diseases
2023

Palmoplantar keratoderma and digital clubbing in 2 sisters with hypertrophic osteoarthropathy.

JAAD case reports
2022

Etoricoxib as a treatment of choice for patients with SLCO2A1 mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy: A case report.

Frontiers in genetics
2023

Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy.

European journal of medical genetics
2022

Chronic 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 Gastroenterology
2022

Primary Hypertrophic Osteoarthropathy With Myelofibrosis.

Cureus
2022

Primary hypertrophic osteoarthropathy and bilateral transient lateral patellar dislocation in an adolescent.

BJR case reports
2022

Chronic enteropathy associated with SLCO2A1-associated primary hypertrophic osteoarthropathy in a female patient.

Clinics and research in hepatology and gastroenterology
2022

Coincidence of pachydermoperiostosis and synovitis, acne, pustulosis, hyperostosis, osteitis syndrome, a causal or casual association?

International journal of rheumatic diseases
2022

Clinical and biochemical characteristics of 12 Chinese primary hypertrophic osteoarthropathy patients with HPGD mutations.

International journal of biological sciences
2022

Digital clubbing, joint pain, and skin changes in a young man: primary hypertrophic osteoarthropathy.

Clinical rheumatology
2022

Clinical and Genetic Characteristics of Korean Patients Diagnosed with Chronic Enteropathy Associated with SLCO2A1 Gene: A KASID Multicenter Study.

Gut and liver
2022

Gastrointestinal Multiple Adenomas in Primary Hypertrophic Osteoarthropathy.

Mayo Clinic proceedings
2022

Primary Hypertrophic Osteoarthropathy.

The New England journal of medicine
2022

A rare helicobacter pylori infection-negative early gastric cancer in a young man with primary hypertrophic osteoarthropathy.

Endoscopy
2022

Bone 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 Research
2021

Lost bones: differential diagnosis of acro-osteolysis seen by the pediatric rheumatologist.

Pediatric rheumatology online journal
2021

Multiple 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 Liver
2022

Differential Diagnosis of Acromegaly: Pachydermoperiostosis Two New Cases from Turkey.

Journal of clinical research in pediatric endocrinology
2021

Monoallelic 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 Research
2021

SLCO2A1 gene is the causal gene for both primary hypertrophic osteoarthropathy and hereditary chronic enteropathy.

Journal of orthopaedic translation
2021

Establishment of a novel human iPSC line (SDQLCHi032-A) derived from a patient with primary hypertrophic osteoarthropathy caused by HPGD homozygous mutation.

Stem cell research
2021

Recent advances in studies of SLCO2A1 as a key regulator of the delivery of prostaglandins to their sites of action.

Pharmacology &amp; therapeutics
2021

[Clinical and genetic characteristics of patients with chronic enteropathy associated with SLCO2A1 gene].

Zhonghua nei ke za zhi
2020

Characterization of Mineral and Bone Metabolism Biomarkers in a Chinese Consanguineous Twin Family with Primary Hypertrophic Osteoarthropathy.

International journal of endocrinology
2021

Primary hypertrophic osteoarthropathy with severe arthralgia identified by gene mutation of SLCO2A1.

Modern rheumatology case reports
2020

[Primary hypertrophic osteoarthropathy with renal hypokalemia: a case report].

Zhonghua nei ke za zhi
2021

Diagnosis and Management of a Patient With Primary Hypertrophic Osteoarthropathy With SCLO2A1 Pathogenic Variants in Vietnam.

Journal of clinical rheumatology : practical reports on rheumatic &amp; musculoskeletal diseases
2020

Pachydermoperiostosis: Classic Presentation of a Rare Disease.

Mediterranean journal of rheumatology
2020

Incomplete primary hypertrophic osteoarthropathy.

BMJ case reports
2020

Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families.

Clinical dysmorphology
2020

Rheumatoid Arthritis-Associated Interstitial Lung Disease.

The American journal of the medical sciences
2020

Complete form of pachydermoperiostosis.

Anais brasileiros de dermatologia
2019

Primary hypertrophic osteoarthropathy related gastrointestinal complication has distinctive clinical and pathological characteristics: two cases report and review of the literature.

Orphanet journal of rare diseases
2019

A case of primary hypertrophic osteoarthropathy: Management considerations.

International journal of rheumatic diseases
2020

Impaired 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 USA
2020

Characteristic Facial Appearance Was the Key to Diagnosing Chronic Enteropathy Associated with SLCO2A1-associated Primary Hypertrophic Osteoarthropathy.

Internal medicine (Tokyo, Japan)
2020

A patient with stimulator of interferon genes-associated vasculopathy with onset in infancy without skin vasculopathy.

Rheumatology (Oxford, England)
2019

Safety and efficacy of cyclooxygenase-2 inhibition for treatment of primary hypertrophic osteoarthropathy: A single-arm intervention trial.

Journal of orthopaedic translation
2020

Graves Disease Presenting With Advanced Orbitopathy and Acropachy.

Ophthalmic plastic and reconstructive surgery
2019

Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging Findings.

Cytogenetic and genome research
2019

The first case of primary hypertrophic osteoarthropathy with soft tissue giant tumors caused by HPGD loss-of-function mutation.

Endocrine connections
2019

Novel SLCO2A1compound heterozygous mutation causing primary hypertrophic osteoarthropathy with Bartter-like hypokalemia in a Chinese family.

Journal of endocrinological investigation
2020

Exogenous lipoid pneumonia in children: A systematic review.

Paediatric respiratory reviews
2019

Pachydermoperiostosis (Touraine-Solente-Gole syndrome): a case report.

Journal of medical case reports
2018

A male Korean who was diagnosed with chronic enteropathy associated with SLCO2A1 (CEAS): case report with literature review.

BMJ open gastroenterology
2018

Novel SLCO2A1 mutations cause gender-differentiated pachydermoperiostosis.

Endocrine connections
2018

Targeted exome sequencing identified a novel mutation hotspot and a deletion in Chinese primary hypertrophic osteoarthropathy patients.

Clinica chimica acta; international journal of clinical chemistry
2018

[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 sciences
2018

Primary hypertrophic osteoarthropathy: Report of two novel genetic variants in the SLCO2A1 gene in two Mexican patients.

Indian journal of dermatology, venereology and leprology
2018

Idiopathic pulmonary fibrosis: a clinical update.

The British journal of general practice : the journal of the Royal College of General Practitioners
2018

A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment.

American journal of medical genetics. Part A
2018

[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 genetics
2018

Incomplete 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, India
2018

Pachydermoperiostosis in a patient with chronic hepatitis B virus infection referred as acromegaly: a case report.

Journal of medical case reports
2018

Clinical features of chronic enteropathy associated with SLCO2A1 gene: a new entity clinically distinct from Crohn's disease.

Journal of gastroenterology
2018

Effectiveness of non-steroidal anti-inflammatory drugs among patients with primary hypertrophic osteoarthropathy: A systematic review.

Journal of dermatological science
2017

[A boy with digital clubbing].

Nederlands tijdschrift voor geneeskunde
2018

A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family.

Annals of human genetics
2018

Primary Hypertrophic Osteoarthropathy With SLCO2A1 Mutation in a Chinese Patient Successfully Treated With Etoricoxib.

Journal of clinical rheumatology : practical reports on rheumatic &amp; musculoskeletal diseases
2017

Polyarthritis is a Rare Manifestation of Pachydermoperiostosis: A Case Report.

Mymensingh medical journal : MMJ
2017

Roles of Organic Anion Transporting Polypeptide 2A1 (OATP2A1/SLCO2A1) in Regulating the Pathophysiological Actions of Prostaglandins.

The AAPS journal
2018

Touraine-Solente-Gole syndrome.

Orbit (Amsterdam, Netherlands)
2018

Identification of mutations in the prostaglandin transporter gene SLCO2A1 and phenotypic comparison between two subtypes of primary hypertrophic osteoarthropathy (PHO): A single-center study.

Bone
2017

Primary hypertrophic osteoarthropathy due to a novel SLCO2A1 mutation masquerading as acromegaly.

Endocrinology, diabetes &amp; metabolism case reports
2017

Clinical, 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 Research
2017

Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy.

Molecular medicine reports
2017

[Genetic analysis of a pedigree with primary hypertrophic osteoarthropathy].

Zhonghua nei ke za zhi
2017

Primary Idiopathic Osteoarthropathy: Could It Be Related to Alcoholism?

Case reports in rheumatology
2017

Extramedullary hematopoiesis with spinal cord compression in pachydermoperiostosis.

Joint bone spine
2016

A rare cause of finger clubbing : Pachydermoperiostosis.

La Tunisie medicale
2016

Identification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis.

Journal of Korean medical science
2016

Primary hypertrophic osteoarthropathy: ultrasound and MRI findings.

Pediatric radiology
2015

Primary Hypertrophic Osteoarthropathy: An Update on Patient Features and Treatment.

The Journal of rheumatology
2015

[55-year old man with dyspnea].

Deutsche medizinische Wochenschrift (1946)
2015

A Common Mutation and a Novel Mutation in the HPGD Gene in Nine Patients with Primary Hypertrophic Osteoarthropathy.

Calcified tissue international
2015

[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 genetics
2015

Primary hypertrophic osteoarthropathy with myelofibrosis and anemia: a case report and review of literature.

International journal of clinical and experimental medicine
2015

Involvement of prostaglandin E2 in the first Japanese case of pachydermoperiostosis with HPGD mutation and recalcitrant leg ulcer.

Journal of dermatological science
2015

A novel homozygous mutation in the SLCO2A1 gene is associated with severe primary hypertrophic osteoarthropathy phenotype in a Saudi patient.

International journal of dermatology
Ver todos os 148 no EuropePMC

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Doenças relacionadas

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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.

  1. Myelofibrosis as a Presenting Manifestation of Primary Hypertrophic Osteoarthropathy.
    Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion· 2026· PMID 41522567mais citado
  2. Hypertophic osteoarthropathy and clubbing: the role of prostaglandin E2.
    Clinics (Sao Paulo, Brazil)· 2026· PMID 41865604mais citado
  3. Primary hypertrophic osteoarthropathy presenting with ptosis and floppy eyelids: a review of ophthalmic manifestations, histopathology, and pathophysiology.
    Orbit (Amsterdam, Netherlands)· 2026· PMID 41718423mais citado
  4. From Juvenile Idiopathic Arthritis to Pachydermoperiostosis: A Journey to an Unexpected Rare Diagnosis.
    Journal of clinical medicine· 2026· PMID 41682637mais citado
  5. When it's not juvenile idiopathic arthritis: unmasking monogenic mimickers in children monogenic mimickers of chronic arthritis.
    European journal of pediatrics· 2025· PMID 41288813mais citado
  6. Pachydermoperiostosis Presenting With Gynecomastia and Low Insulin-Like Growth Factor-1 Levels: A Diagnostic Challenge.
    Cureus· 2025· PMID 41552116recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:248095(Orphanet)
  2. MONDO:0016620(MONDO)
  3. GARD:20667(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. 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

Osteoartropatia hipertrófica primária
Compêndio · Raras BR

Osteoartropatia hipertrófica primária

ORPHA:248095 · MONDO:0016620
Prevalência
Unknown
Herança
Autosomal recessive
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0009080
EuropePMC
Wikidata
Papers 10a
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