Doença hereditária genética e clinicamente heterogênea caracterizada por baqueteamento digital e osteoartropatia, com características variáveis de paquidermia, fechamento tardio das fontanelas e doença cardíaca congênita. Existem dois tipos de PHO: paquidermoperiostose e cranioosteoartropatia.
Introdução
O que você precisa saber de cara
Doença hereditária genética e clinicamente heterogênea caracterizada por baqueteamento digital e osteoartropatia, com características variáveis de paquidermia, fechamento tardio das fontanelas e doença cardíaca congênita. Existem dois tipos de PHO: paquidermoperiostose e cranioosteoartropatia.
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
+ 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 dominant, 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.
Classificação de variantes (ClinVar)
Distribuição de 1 variantes classificadas pelo 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 — Paquidermoperiostose
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
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
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.
Pachydermoperiostosis.
Distinct features of three clinical subtypes in 533 patients with primary hypertrophic osteoarthropathy.
Primary hypertrophic osteoarthropathy (PHO) is a rare genetic disorder classified into clinical subtypes and genetic subtypes. Previous clinical studies have primarily focused on case reports and family analyses, largely characterizing the genetic subtypes. However, there remains a long-standing gap in understanding the characteristics of the different clinical subtypes of PHO. This study aimed to determine the distribution of the three clinical subtypes of PHO and compare their clinical characteristics using a large global sample. A systematic literature search was conducted in multiple databases to categorize cases into complete form (CO), incomplete form (IN), and fruste form (FR). Statistical analyses were performed to assess clinical differences in a retrospective study design. Males predominated across all subtypes, whereas females were most prevalent in IN patients (51.1%). IN patients had the highest family history rate (62.1%). Age at onset peaked in adolescence for CO and FR patients, while IN patients exhibited bimodal peaks in early childhood and adolescence. Congenital diseases were more frequent in IN patients (7.8%, P = 0.021), while CO patients had a higher prevalence of digestive system diseases (12.2%, P = 0.007). Urinary prostaglandin E2 (PGE2) and PGE Metabolite (PGEM) were consistently elevated in CO and FR patients. In IN patients, urinary PGE2 levels were also increased, but the urinary PGEM levels showed equal proportions of elevation and reduction. Genetic analysis revealed that solute carrier organic anion transporter family member 2A1 (SLCO2A1) mutations were predominant in CO (95 cases, 73.1%) and FR (22 cases, 57.9%) patients, whereas hydroxyprostaglandin dehydrogenase (HPGD) mutations were most frequently associated with IN (25 cases, 73.5%). The three clinical subtypes of PHO exhibited distinct characteristics with no clear correlation between clinical and genetic subtypes. These findings highlighted the clinical significance of PHO typing and provided valuable insights for diagnosis, differential diagnosis and subtype-specific management strategies.
Pachydermoperiostosis Presenting With Gynecomastia and Low Insulin-Like Growth Factor-1 Levels: A Diagnostic Challenge.
Pachydermoperiostosis (PDP), or primary hypertrophic osteoarthropathy, is a rare genetic disorder characterized by digital clubbing, skin thickening, and periostosis. Due to its overlapping clinical features with secondary hypertrophic osteoarthropathy, it often poses a diagnostic challenge. We report a case of a 20-year-old male patient who presented with progressive digital clubbing, joint pain, and coarse facial features over four years. The patient also exhibited gynecomastia, an uncommon feature in PDP. Despite no history of underlying pulmonary, cardiac, or gastrointestinal disease, his symptoms persisted. Hormonal evaluation revealed low insulin-like growth factor-1 (IGF-1) levels with normal pituitary imaging, effectively excluding acromegaly. Genetic and radiographic studies were not performed due to logistical constraints. Diagnosis was established through clinical evaluation and exclusion of secondary causes. The patient was managed symptomatically with nonsteroidal anti-inflammatory drugs (NSAIDs) and lifestyle modifications, resulting in partial relief of joint pain and stiffness. This case highlights the importance of recognizing PDP in young patients presenting with clubbing and skin changes, especially in the absence of secondary causes. Early diagnosis and multidisciplinary management are essential to prevent unnecessary investigations and improve patient outcomes.
Publicações recentes
When Myelofibrosis is Skin-Deep: A Clinical Clue to a Rare Diagnosis.
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.
P19 A rare case of PHOAR2-enteropathy syndrome (PHOAR2E; previously known as pachydermoperiostosis) with a causal variant in the SLCO2A1 gene.
📚 EuropePMC374 artigos no totalmostrando 115
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.
CureusP19 A rare case of PHOAR2-enteropathy syndrome (PHOAR2E; previously known as pachydermoperiostosis) with a causal variant in the SLCO2A1 gene.
The British journal of dermatologyA Rare Case of Primary Hypertrophic Osteoarthropathy Secondary to SLCO2A1 Gene Mutation.
The Journal of the Association of Physicians of IndiaPachydermoperiostosis Associated With a Rare SLCO2A1 Mutation: A Case Report and Literature Review.
CureusBone Density, Microarchitecture, and Geometry Assessment in Patients with Pachydermoperiostosis Using Second-Generation High-Resolution Peripheral Quantitative Computed Tomography: A Case-Control Study.
Calcified tissue internationalFamilial complete pachydermoperiostosis presenting with vertebral hypertrophy and myelopathy.
JBMR plusPachydermodactyly: An Underdiagnosed Condition in Adolescence-A Case Report and Literature Review.
Case reports in dermatological medicineDistinct features of three clinical subtypes in 533 patients with primary hypertrophic osteoarthropathy.
Orphanet journal of rare diseasesPrimary hypertrophic osteoarthropathy: phenotypic variability and penetrance rate in heterozygotes for SLCO2A1 variants.
JBMR plusPachydermoperiostosis successfully treated with celecoxib.
The Journal of dermatologyAcetaminophen as a possible treatment option for pachydermoperiostosis carrying mutated SLCO2A1: Case series.
The Journal of dermatologyEndocrine Alterations in Patients With Pachydermoperiostosis.
The Journal of clinical endocrinology and metabolismPachydermoperiostosis Due to a Novel HPGD Splicing Site Mutation Masquerading as Acromegaly.
JCEM case reportsPachydermoperiostosis: cosmetic implications in a multisystem genetic condition.
Clinical and experimental dermatologyPachydermoperiostosis Presenting With End-Stage Kidney Disease.
CureusLack of cutis verticis gyrata is associated with c.1279_1290del12 of SLCO2A1 in 43 Japanese patients with pachydermoperiostosis.
Journal of dermatological scienceRole of bisphosphonates in hypertrophic osteoarthropathy: a systematic review.
EndocrinePseudoacromegaly-A challenging entity in the endocrine clinic: A systematic review.
Clinical endocrinologyComprehensive Treatment of a Rare Case of Complete Primary Pachydermoperiostosis with Large Facial Keloid Scars: A Case Report and Literature Review.
Case reports in dermatologyPachydermoperiostosis with Chronic Venous Disease.
Portuguese journal of cardiac thoracic and vascular surgeryPachydermoperiostosis 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 AIdentification of three novel mutations in SLCO2A1 in Asian-Indians with Pachydermoperiostosis.
The Indian journal of medical researchPachydermoperiostosis: a case report of initial improvement with etoricoxib.
Annals of medicine and surgery (2012)Pachydermoperiostosis with bilateral ptosis and its associated systemic comorbidities: a rare case report.
The Pan African medical journalComplete form of pachydermoperiostosis with good initial response to etoricoxib: A case report.
Clinical case reportsA case report of an extremely rare association of ankylosing spondylitis with pachydermoperiostosis.
Clinical case reportsPachydermoperiostosis and Work Restrictions: A Case Report.
CureusPachydermoperiostosis complicated with psoriatic arthritis successfully treated with an anti-interleukin 17A antibody.
JAAD case reportsA patient with pachydermoperiostosis harboring SLCO2A1 variants with a history of differentiating from acromegaly.
Bone reportsPrimary pachydermoperiostosis associated with pigmented villonodular synovitis: An unknown association?
International journal of rheumatic diseasesA Complete Form of Pachydermoperiostosis Accompanied by a Pituitary Microadenoma.
Clinical, cosmetic and investigational dermatologyNovel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy.
European journal of medical geneticsNon-invasive visualization of epidermal hypertrophy of pachydermoperiostosis.
Journal of the European Academy of Dermatology and Venereology : JEADVPachydermoperiostosis with Hearing Loss.
SkinmedCoincidence of pachydermoperiostosis and synovitis, acne, pustulosis, hyperostosis, osteitis syndrome, a causal or casual association?
International journal of rheumatic diseasesWhole body diffusion weighted imaging with background suppression in pachydermoperiostosis: a case report.
Clinical imagingComplete primary pachydermoperiostosis.
The Ceylon medical journalApproach to the Patient With Pseudoacromegaly.
The Journal of clinical endocrinology and metabolismSkin anomalies in acromegalic patients (Review of the practical aspects).
Experimental and therapeutic medicineRhytidectomy for pachydermoperiostosis.
Indian journal of dermatology, venereology and leprologyEicosanoid profiling in patients with complete form of pachydermoperiostosis carrying SLCO2A1 mutations.
The Journal of dermatologyRole of Prostaglandin E-Major Urinary Metabolite Levels in Identifying the Phenotype of Pachydermoperiostosis.
The Journal of investigative dermatologyA Case of Progressive Thickening and Furrowing of Facial Skin and Scalp with Scarring Alopecia.
Skin appendage disordersDifferential Diagnosis of Acromegaly: Pachydermoperiostosis Two New Cases from Turkey.
Journal of clinical research in pediatric endocrinologyA case of complete form of pachydermoperiostosis with SLCO2A1 mutations.
European journal of dermatology : EJDPachydermoperiostosis Presenting With Vision Loss Secondary to Severe Phlyctenular Keratoconjunctivitis.
CorneaRare gastric manifestations in primary pachydermoperiostosis.
Rheumatology (Oxford, England)Frontal lifting using a tissue expander in pachydermoperiostosis: A case report.
Clinical case reportsChronic Enteropathy Associated with SLCO2A1 with Pachydermoperiostosis.
Internal medicine (Tokyo, Japan)Primary hypertrophic osteoarthropathy with severe arthralgia identified by gene mutation of SLCO2A1.
Modern rheumatology case reportsPachydermoperiostosis: Classic Presentation of a Rare Disease.
Mediterranean journal of rheumatologyParavertebral extramedullary haemopoiesis in a patient with pachydermoperiostosis.
British journal of haematologyTouraine-Solente-Gole syndrome: Clinical manifestation with bilateral true eyelid ptosis.
JPRAS openPachydermoperiostosis mimicking the acral abnormalities of acromegaly.
EndocrinePachydermoperiostosis Associated with Myelofibrosis: A Rare Case Report.
Indian journal of dermatologyComplete form of pachydermoperiostosis.
Anais brasileiros de dermatologiaPachydermoperiostosis: A clinicopathological description.
Journal of current ophthalmologyBisphosphonates use in Pachydermoperiostosis.
The Journal of the Association of Physicians of IndiaIncomplete Pachydermoperiostosis Associated With Excessive Alcohol Intake.
Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseasesPrimary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging Findings.
Cytogenetic and genome researchFeet Deformity and Gait Disturbance in a Patient with Pachydermoperiostosis (PDP). Case Study.
Ortopedia, traumatologia, rehabilitacjaInfectious versus non-infectious causes of oligoarticular inflammatory arthritis: A prospective study from a tertiary care hospital in north India.
Drug discoveries & therapeuticsInflammatory variant of pachydermoperiostosis responding to methotrexate: a report of two cases.
Oxford medical case reportsA novel mutation in the SLCO2A1 gene in a Chinese family with pachydermoperiostosis.
The Australasian journal of dermatologyComplete form of pachydermoperiostosis with cutis verticis gyrata resulting from the SLCO2A1 gene mutation.
Indian journal of dermatology, venereology and leprologyComplete primary pachydermoperiostosis: A case report from Jordan and review of literature.
Clinical case reportsPachydermoperiostosis (Touraine-Solente-Gole syndrome): a case report.
Journal of medical case reportsNovel SLCO2A1 mutations cause gender-differentiated pachydermoperiostosis.
Endocrine connectionsClubbing and pachydermoperiostosis.
QJM : monthly journal of the Association of PhysiciansPachydermoperiostosis Mimicking Acromegaly: A Case Report.
Indian dermatology online journalComprehensive Surgical Strategies for the Management of Pachydermoperiostosis.
Facial plastic surgery : FPSHypertrophic osteoarthropathy mimicking a reactive arthritis: a case report and review of the literature.
BMC musculoskeletal disordersA novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment.
American journal of medical genetics. Part AIncomplete 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 reportsPachydermoperiostosis in a Patient with Crohn's Disease: Treatment and Literature Review.
Iranian journal of medical sciencesSuccessful treatment of pachydermoperiostosis patients with etoricoxib, aescin, and arthroscopic synovectomy: Two case reports.
MedicineClinical 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 sciencePachydermoperiostosis Masquerading as Acromegaly.
Journal of the Endocrine SocietyPolyarthritis is a Rare Manifestation of Pachydermoperiostosis: A Case Report.
Mymensingh medical journal : MMJPachydermoperiostosis: The Elephant Skin Disease.
The Journal of rheumatologyTouraine-Solente-Gole syndrome.
Orbit (Amsterdam, Netherlands)Pachydermoperiostosis: The value of molecular diagnosis.
Annales de dermatologie et de venereologieInterleukin-6, tumor necrosis factor-alpha and receptor activator of nuclear factor kappa ligand are elevated in hypertrophic gastric mucosa of pachydermoperiostosis.
Scientific reportsPachydermoperiostosis of the complete type: A novel missense mutation c.101T > C in the SLCO2A1 gene.
European journal of medical geneticsPachydermoperiostosis: a rare mimicker of acromegaly.
Endocrinology, diabetes & metabolism case reportsPrimary hypertrophic osteoarthropathy due to a novel SLCO2A1 mutation masquerading as acromegaly.
Endocrinology, diabetes & metabolism case reportsA rare cause of digital clubbing: pachydermoperiostosis.
The Pan African medical journal[Genetic analysis of a pedigree with primary hypertrophic osteoarthropathy].
Zhonghua nei ke za zhiFacial Manifestations of Pachydermoperiostosis Treated with Botulinum Toxin Type-A: Report of 3 Cases.
Acta dermato-venereologicaInfiltration of mast cells in pachydermia of pachydermoperiostosis.
The Journal of dermatologyA rare case of pachydermoperiostosis associated with blepharoptosis and floppy eyelids.
Indian journal of ophthalmologyComplete type of pachydermoperiostosis with a novel mutation c.510G>A of the SLCO2A1 gene.
The Journal of dermatologyHypertrophic Osteoarthropathy: Clinical and Imaging Features.
Radiographics : a review publication of the Radiological Society of North America, IncTarsal Glandular Hyperplasia in Pachydermoperiostosis and Implications for Ptosis Correction.
Ophthalmic plastic and reconstructive surgeryExtramedullary hematopoiesis with spinal cord compression in pachydermoperiostosis.
Joint bone spinePachydermoperiostosis: Incomplete form, mimicking acromegaly.
Indian journal of endocrinology and metabolismA 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 radiologyPseudoacromegaly in pachydermoperiostosis.
BMJ case reportsSuccessful treatment of pachydermoperiostosis with etoricoxib in a patient with a homozygous splice-site mutation in the SLCO2A1 gene.
The British journal of dermatology[Progress in genetic research on pachydermoperiostosis].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsPachydermoperiostosis, a unique entity with distinctive clinical features.
Dermatology online journalPachydermoperiostosis - Mimic to acromegaly.
Medical journal, Armed Forces IndiaPachidermoperiostosis as a cause of massive joint effusion with polyarticular involvement mimicking juvenile idiopathic arthritis: A case report.
Joint bone spinePachydermoperiostosis and bladder cancer.
Dermatology online journalCase of pachydermoperiostosis with solute carrier organic anion transporter family, member 2A1 (SLCO2A1) mutations.
The Journal of dermatologyPathological characterization of pachydermia in pachydermoperiostosis.
The Journal of dermatologyComplete form of pachydermoperiostosis with SLCO2A1 gene mutation in a Korean family.
The Journal of dermatologyInvolvement of prostaglandin E2 in the first Japanese case of pachydermoperiostosis with HPGD mutation and recalcitrant leg ulcer.
Journal of dermatological scienceAssociações
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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.
- 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.
- Distinct features of three clinical subtypes in 533 patients with primary hypertrophic osteoarthropathy.
- Pachydermoperiostosis Presenting With Gynecomastia and Low Insulin-Like Growth Factor-1 Levels: A Diagnostic Challenge.
- When Myelofibrosis is Skin-Deep: A Clinical Clue to a Rare Diagnosis.
- P19 A rare case of PHOAR2-enteropathy syndrome (PHOAR2E; previously known as pachydermoperiostosis) with a causal variant in the SLCO2A1 gene.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2796(Orphanet)
- MONDO:0016620(MONDO)
- GARD:20667(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q56014639(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
