RESUMO
Primary hypertrophic osteoarthropathy (PHO), or pachydermoperiostosis, is characterized by a clinical association including digital clubbing, periostosis and pachydermia. SLCO2A1 and HPGD genes are both responsible for PHO. The pathology is classically defined as an autosomal recessive disorder with clinical variability ranging from a mild to more severe phenotype. However, the hypothesis for an autosomal dominant form suggested for a long time was only demonstrated for the first time in 2021 for SLCO2A1. We aimed to detect a second pathogenic variant by a deep sequencing of the entire SLCO2A1 and HPGD genes, associated with functional transcription analysis in PHO patients harboring only one heterozygous variant. Among 10 PHO patients, 4 presented a single pathogenic or probably pathogenic novel variant in SLCO2A1 in heterozygous status (NM_005630.3: c.234+1G > A, c.1523_1524delCT, c.1625G > A and c.31delC), and the others carried homozygous pathogenic variants. For heterozygous forms, we found no additional pathogenic variant in HPGD or SLCO2A1. PHO can be a dominant form with age at disease onset later than that for the recessive form. This dominant form is not exceptional in young adults. In conclusion, both modes of inheritance of PHO explain the clinical variability and the difference in age at disease onset. Molecular analysis is especially required in the incomplete form to distinguish it from secondary hypertrophic osteoarthropathy.
Assuntos
Transportadores de Ânions Orgânicos , Osteoartropatia Hipertrófica Primária , Humanos , Osteoartropatia Hipertrófica Primária/genética , Osteoartropatia Hipertrófica Primária/diagnóstico , Osteoartropatia Hipertrófica Primária/patologia , Transportadores de Ânions Orgânicos/genética , Fenótipo , Heterozigoto , LinhagemAssuntos
Hematopoese Extramedular , Osteoartropatia Hipertrófica Primária/fisiopatologia , Adulto , Medula Óssea/patologia , Humanos , Hidroxiureia/uso terapêutico , Masculino , Osteoartropatia Hipertrófica Primária/sangue , Osteoartropatia Hipertrófica Primária/tratamento farmacológico , Osteoartropatia Hipertrófica Primária/patologia , Prednisona/uso terapêuticoRESUMO
Abstract Pachydermoperiostosis (PDP) or primary hypertrophic osteoarthropathy (PHO) is a rare hereditary disease characterized by digital clubbing, pachydermia, and periostosis. Its pathogenesis is uncertain and the diagnosis is based on clinical and radiological data. A complete form of the syndrome is reported in a male patient with disease onset in adolescence, with compatible clinical and radiological findings, presenting the three cardinal findings as well as other associated manifestations, such as hyperhidrosis and acne.
Assuntos
Humanos , Masculino , Adulto Jovem , Osteoartropatia Hipertrófica Primária/patologia , Dermatoses do Couro Cabeludo/patologia , Eritema/patologiaRESUMO
BACKGROUND: Primary hypertrophic osteoarthropathy (PHO) is a rare disease related to HPGD and SLCO2A1 gene mutation. Gastrointestinal involvement of PHO is even rarer with unknown pathogenesis. Clinical features of GI complication in PHO mimics other auto-immune based bowel entities, such as inflammatory bowel diseases and cryptogenic multifocal ulcerous stenosing enteritis (CMUSE). We aimed to analyze the clinical, genetic, radiological and pathological features of Chinese patients with PHO and determine the difference between PHO patients presenting with and without GI involvement. METHODS: We reported two PHO cases with gastrointestinal involvement and reviewed all the studies of PHO in Chinese population published from January 1, 2000, to April 30, 2018. Clinical and genetic presentations of PHO in Chinese patients were analyzed. We compared the characteristics of those patients with gastrointestinal involvement against those without. RESULTS: The two patients were both males with complete-form PHO for more than 10 years. GI related symptoms included diarrhea, chronic gastrointestinal hemorrhage, incomplete intestinal obstruction, anemia, and edema, which were unresponsive to etoricoxib treatment. Radiological examinations revealed segmental intestinal stenosis and thickened intestinal wall. Endoscopic findings included multiple ulcers and mucosal inflammation. Both patients had mutations of SLCO2A1 according to sequence analysis. The surgical pathology revealed chronic inflammation involving the intestinal mucosa and submucosa, similar to histological changes in CMUSE. According to the systemic review of 158 Chinese patients with PHO, 17.2% had gastrointestinal involvement, including peptic ulcer, gastric polyps, hypertrophic gastritis, and segmental intestinal stenosis. Patients with gastrointestinal involvement were more likely to have anemia (40.0% vs. 4.5%, P < 0.001), hypoalbuminemia (16.7% vs. 0.9%, P = 0.003), and myelofibrosis (19.0% vs. 0.9%, P = 0.002) than those without. Most patients with gastrointestinal complication had SLCO2A1 mutation (86.7%, 13 /15). CONCLUSIONS: Digestive tract involvement is uncommon in patients with PHO and often presents with anemia, and hypoalbuminemia resulted from intestinal inflammation. The intestinal pathologic characteristics are distinct from Crohn's disease but similar to CMUSE. Mutations in SLCO2A1 might be the pathogenic cause of GI involvement of PHO. NSAIDs may not be effective for PHO patients with gastrointestinal complications.
Assuntos
Osteoartropatia Hipertrófica Primária/metabolismo , Osteoartropatia Hipertrófica Primária/patologia , Povo Asiático , Gastroenteropatias/genética , Gastroenteropatias/metabolismo , Gastroenteropatias/patologia , Humanos , Oxirredutases Intramoleculares/genética , Oxirredutases Intramoleculares/metabolismo , Mutação , Transportadores de Ânions Orgânicos/genética , Transportadores de Ânions Orgânicos/metabolismo , Osteoartropatia Hipertrófica Primária/genéticaAssuntos
Inibidores de Ciclo-Oxigenase 2/uso terapêutico , Etoricoxib/uso terapêutico , Transportadores de Ânions Orgânicos/genética , Osteoartropatia Hipertrófica Primária/tratamento farmacológico , Adulto , Dinoprostona/antagonistas & inibidores , Dinoprostona/metabolismo , Homozigoto , Humanos , Masculino , Mutação , Osteoartropatia Hipertrófica Primária/genética , Osteoartropatia Hipertrófica Primária/patologia , Sítios de Splice de RNA/genética , Resultado do TratamentoAssuntos
Doenças da Unha/diagnóstico , Osteoartropatia Hipertrófica Primária/diagnóstico , Adulto , Humanos , Hidroxiprostaglandina Desidrogenases/genética , Masculino , Doenças da Unha/congênito , Doenças da Unha/genética , Doenças da Unha/urina , Transportadores de Ânions Orgânicos/genética , Osteoartropatia Hipertrófica Primária/genética , Osteoartropatia Hipertrófica Primária/patologia , Osteoartropatia Hipertrófica Primária/urina , Prostaglandinas/urina , Pele/patologiaRESUMO
Pachydermoperiostosis (PDP) is a rare inherited multisystem disease characterized with digital clubbing, pachydermia and periostosis. Variants in either HPGD or SLCO2A1 that interrupt the prostaglandin E2 (PGE2) pathway have been shown to be involved in PDP. Here, in addition to six confirmed variants in HPGD or SLCO2A1, we identified four novel SLCO2A1 variants in eight PDP patients from seven Chinese Han families. In addition, gastric mucosa hyperplasia was observed in all affected individuals and interleukin-6 (IL-6), tumor necrosis factor-alpha (TNFα) and receptor activator of nuclear factor kappa ligand (RANKL) expression were elevated in hypertrophic gastric mucosa. Two of eight patients who had severe arthralgia were treated with celecoxib. After three months, their arthralgia was partly relieved and IL-6, TNFα and RANKL expression were decreased in accordance with their relieved hypertrophic gastric mucosa. Our study broadens the variation spectrum of SLCO2A1 and suggests that the gastric mucosa hyperplasia might be a common characteristic of PDP. Moreover, celecoxib would be a considerable choice for PDP patients. We also revealed that IL-6, TNFα and RANKL may play important roles in the molecular mechanisms of gastric mucosa hyperplasia in PDP for the first time.
Assuntos
Mucosa Gástrica/metabolismo , Mucosa Gástrica/patologia , Interleucina-6/metabolismo , Osteoartropatia Hipertrófica Primária/metabolismo , Osteoartropatia Hipertrófica Primária/patologia , Ligante RANK/metabolismo , Fator de Necrose Tumoral alfa/metabolismo , Biomarcadores , Biópsia , Celecoxib/uso terapêutico , Análise Mutacional de DNA , Humanos , Hipertrofia , Imuno-Histoquímica , Interleucina-6/genética , Oxirredutases Intramoleculares/genética , Oxirredutases Intramoleculares/metabolismo , Masculino , Mutação , Transportadores de Ânions Orgânicos/genética , Transportadores de Ânions Orgânicos/metabolismo , Osteoartropatia Hipertrófica Primária/tratamento farmacológico , Osteoartropatia Hipertrófica Primária/genética , Linhagem , Fenótipo , Ligante RANK/genética , Fator de Necrose Tumoral alfa/genéticaRESUMO
Primary hypertrophic osteoarthropathy (PHO) is a rare inherited disease caused by genetic defects in the prostaglandin metabolism pathway; disturbed prostaglandin E2 (PGE2 ) catabolism resulting in increased PGE2 level is suggested in the pathogenesis. Forty-three Han Chinese patients with PHO were studied and 41 of them were treated. Mutations in the HPGD gene, causing hypertrophic osteoarthropathy, primary, autosomal recessive 1 (PHOAR1; OMIM 259100), were identified in seven patients, and mutations in the SLCO2A1 gene, causing hypertrophic osteoarthropathy, primary, autosomal recessive 2 (PHOAR2; OMIM 614441), were identified in 36 patients. Clinical phenotypes of PHO varied, ranging from mild isolated finger clubbing to severe pachydermia and disabling joint swelling, even within families. Circulating PGE2 metabolism features of PHOAR2 were different from those of PHOAR1. Different frequency and severity of pachydermia between the subgroups were also indicated. A percentage of PHOAR2 patients suffered from gastrointestinal hemorrhage, but this symptom was not observed in the PHOAR1 subgroup. Clinical evidence highlighted the essential role of sex hormones in prostaglandin transporter regulation with respect to PHOAR2 onset, although no significant associations of urinary PGE2 or PGE-M with sex hormones were identified. Treatment with etoricoxib, a selective cyclooxygenase-2 inhibitor, was proved to be beneficial and safe. We detected its notable efficacy in decreasing urinary PGE2 levels in the majority of the enrolled patients during 6 months of intervention; clinical phenotypes assessed, including pachydermia, finger clubbing, and joint swelling, were improved. We found no visible evidence of a positive effect of etoricoxib on periostosis; however, significant links between urinary PGE2 and serum bone turnover markers indicated a potential role of decreased PGE2 in periostosis management. This is the largest reported cohort of subjects genetically diagnosed with PHO. For the first time, we systematically investigated the biochemical and clinical differences between PHOAR1 and PHOAR2, and prospectively showed the positive efficacy and safety of etoricoxib for PHO patients. © 2017 American Society for Bone and Mineral Research.
Assuntos
Dinoprostona/urina , Transportadores de Ânions Orgânicos/genética , Osteoartropatia Hipertrófica Primária , Piridinas/administração & dosagem , Sulfonas/administração & dosagem , Adulto , Povo Asiático , China , Etoricoxib , Família , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Osteoartropatia Hipertrófica Primária/tratamento farmacológico , Osteoartropatia Hipertrófica Primária/genética , Osteoartropatia Hipertrófica Primária/patologia , Osteoartropatia Hipertrófica Primária/urina , Estudos ProspectivosRESUMO
Hypertrophic osteoarthropathy (HOA) is a medical condition characterized by abnormal proliferation of skin and periosteal tissues involving the extremities and characterized by three clinical features: digital clubbing (also termed Hippocratic fingers), periostosis of tubular bones, and synovial effusions. HOA can be a primary entity, known as pachydermoperiostosis, or can be secondary to extraskeletal conditions, with different prognoses and management implications for each. There is a high association between secondary HOA and malignancy, especially non-small cell lung cancer. In such cases, it can be considered a form of paraneoplastic syndrome. The most prevalent secondary causes of HOA are pulmonary in origin, which is why this condition was formerly referred to as hypertrophic pulmonary osteoarthropathy. HOA can also be associated with pleural, mediastinal, and cardiovascular causes, as well as extrathoracic conditions such as gastrointestinal tumors and infections, cirrhosis, and inflammatory bowel disease. Although the skeletal manifestations of HOA are most commonly detected with radiography, abnormalities can also be identified with other modalities such as computed tomography, magnetic resonance imaging, and bone scintigraphy. The authors summarize the pathogenesis, classification, causes, and symptoms and signs of HOA, including the genetics underlying the primary form (pachydermoperiostosis); describe key findings of HOA found at various imaging modalities, with examples of underlying causative conditions; and discuss features differentiating HOA from other causes of multifocal periostitis, such as thyroid acropachy, hypervitaminosis A, chronic venous insufficiency, voriconazole-induced periostitis, progressive diaphyseal dysplasia, and neoplastic causes such as lymphoma. ©RSNA, 2016.
Assuntos
Diagnóstico por Imagem/métodos , Neoplasias/diagnóstico por imagem , Neoplasias/patologia , Osteoartropatia Hipertrófica Primária/diagnóstico por imagem , Osteoartropatia Hipertrófica Primária/patologia , Diagnóstico Diferencial , Humanos , Neoplasias/complicações , Osteoartropatia Hipertrófica Primária/etiologiaRESUMO
Pachydermoperiostosis (PDP), or primary hypertrophic osteoarthropathy, is a rare genetic disease affecting both skin and bones. Both autosomal dominant with incomplete penetrance and recessive inheritance of PDP have been previously confirmed. Recently, hydroxyprostaglandin dehydrogenase (HPGD) and solute carrier organic anion transporter family member 2A1 (SLCO2A1) were reported as pathogenic genes responsible for PDP. Both genes are involved in prostaglandin E2 (PGE2) degradation. We aimed to identify responsible genes for PDP and the clinical features in Korean patients with PDP. Six affected individuals and their available healthy family members from three unrelated Korean families with PDP were studied. All of the patients displayed complete phenotypes of PDP with finger clubbing, pachydermia, and periostosis. Mutation analysis revealed a novel heterozygous mutation in the SLCO2A1 gene at nucleotide 302 causing a substitution of the amino acid isoleucine to serine at codon 101 (p.IIe101Ser) in affected individuals. We also identified known SLCO2A1 mutations, one homozygous for c.940+1G>A, and another compound heterozygous for c.940+1G>A and c.1807C>T (p.Arg603*) from two PDP families. Genetic analyses of the PDP patients showed no abnormality in the HPGD gene. Our study further supports the role of mutations in the SLCO2A1 gene in the pathogenesis of PDP and could provide additional clues to the genotype-phenotype relations of PDP.
Assuntos
Transportadores de Ânions Orgânicos/genética , Osteoartropatia Hipertrófica Primária/genética , Osso e Ossos/diagnóstico por imagem , Pré-Escolar , Análise Mutacional de DNA , Éxons , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Osteoartropatia Hipertrófica Primária/diagnóstico por imagem , Osteoartropatia Hipertrófica Primária/patologia , Linhagem , Fenótipo , Polimorfismo Genético , Tomografia por Emissão de Pósitrons , Adulto JovemRESUMO
BACKGROUND: Digital clubbing and hypertrophic osteoarthropathy (HOA) form a diagnostic challenge. Subtle presentations of clubbing are often missed. The underlying pathophysiology remains unclear. Establishing a differential diagnosis based on nonspecific signs can be cumbersome. Finally, the prognostic value of clubbing and HOA remains unclear. OBJECTIVE: This article reviews clinical criteria and pathophysiology of clubbing and HOA. A diagnostic algorithm is proposed, based on etiology and current insights. The prognostic impact on associated diseases is discussed. METHODS: The Internet databases Medline and Embase were searched. Articles were selected based on relevance of abstract, article type and impact of the journal. RESULTS: Diagnostic criteria include Lovibond's profile sign, distal/interphalangeal depth ratio and Schamroth's sign. Three pathophysiological causes of clubbing can be distinguished: hypoxia, chronic inflammation and aberrant vascularization. A prominent role for vascular endothelial growth factor is suggested. Associated symptoms and clinical signs should guide the initial diagnostic evaluation. Finally, clubbing is a negative prognostic factor in certain pulmonary disorders, including cystic fibrosis.
Assuntos
Osteoartropatia Hipertrófica Primária , Osteoartropatia Hipertrófica Secundária , Humanos , Osteoartropatia Hipertrófica Primária/diagnóstico , Osteoartropatia Hipertrófica Primária/patologia , Osteoartropatia Hipertrófica Primária/fisiopatologia , Osteoartropatia Hipertrófica Secundária/diagnóstico , Osteoartropatia Hipertrófica Secundária/patologia , Osteoartropatia Hipertrófica Secundária/fisiopatologia , PrognósticoAssuntos
Artrite/patologia , Neoplasias Esofágicas/complicações , Osteoartropatia Hipertrófica Primária/patologia , Osteoartropatia Hipertrófica Secundária/diagnóstico por imagem , Artrite/etiologia , Fadiga/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Osteoartropatia Hipertrófica Primária/etiologia , Osteoartropatia Hipertrófica Secundária/complicações , Osteoartropatia Hipertrófica Secundária/patologia , Radiografia , Redução de PesoRESUMO
Paraneoplastic syndromes, which are discussed in this paper, are a heterogeneous group of disorders associated with cancer, but not directly caused by the physical effects of the primary tumor or its metastases. May precede the appearance of the malignant process, occur simultaneously or disclose in the course of cancer. Paraneoplastic syndromes may be caused directly by toxins produced by tumor cells, occur in the course of hypersensitivity reactions, or be the result of release of intracellular antigens. Due to the often similar systemic symptoms it is very important to evaluate the association of rheumatic diseases and cancer. Most paraneoplastic rheumatologic syndroms are difficult distinguishable from idiopathic rheumatologic disorders. The most common paraneoplastic syndromes include rheumatoid arthritis (RA)-like syndrome arthritis, inflammatory myopathies, hypertrophic osteoarthropathy, vasculitis and Raynaud's phenomenon.
Assuntos
Artrite Reumatoide/diagnóstico , Miosite/diagnóstico , Osteoartropatia Hipertrófica Primária/diagnóstico , Síndromes Paraneoplásicas/diagnóstico , Doença de Raynaud/diagnóstico , Vasculite/diagnóstico , Artrite Reumatoide/complicações , Artrite Reumatoide/patologia , Diagnóstico Diferencial , Humanos , Miosite/complicações , Miosite/patologia , Osteoartropatia Hipertrófica Primária/complicações , Osteoartropatia Hipertrófica Primária/patologia , Síndromes Paraneoplásicas/complicações , Síndromes Paraneoplásicas/patologia , Doença de Raynaud/complicações , Doença de Raynaud/patologia , Vasculite/complicações , Vasculite/patologiaRESUMO
A paquidermoperiostose primária é uma doença rara, caracterizada por aposição excessiva do periósteo do crânio, coexistindo com espessamento da epiderme e derme (paquidermia), provocando deformidades grosseiras. Devido à diversidade de estruturas acometidas, há várias opções cirúrgicas e métodos complementares que são utilizados no tratamento das alterações faciais desses pacientes. Esse trabalho apresenta o lifting subperiosteal como uma opção de tratamento estético para a face de pacientes portadores dessa síndrome, através do relato de dois casos operados no Hospital das Clínicas da Universidade Federal de Minas Gerais.
Primary pachydermoperiostosis is a rare disease characterized by excessive skull affixing of the periosteum, coexisting with thickening of the epidermis and dermis (pachydermia), thereby causing gross deformities. Owing to the variety of affected structures, there are several surgical options and complementary methods that are used in the treatment of facial alterations in these patients. This report describes the use of subperiosteal detachment as an aesthetic treatment option for the faces of two patients with primary pachydermoperiostosis, operated at the Hospital das Clínicas of the Federal University of Minas Gerais.
Assuntos
Humanos , Masculino , Adulto , História do Século XXI , Osteoartropatia Hipertrófica Primária , Periósteo , Retinoides , Relatos de Casos , Estudo Comparativo , Isotretinoína , Ritidoplastia , Colchicina , Estudo de Avaliação , Fármacos Dermatológicos , Face , Ossos Faciais , Osteoartropatia Hipertrófica Primária/cirurgia , Osteoartropatia Hipertrófica Primária/patologia , Periósteo/anormalidades , Periósteo/cirurgia , Periósteo/patologia , Retinoides/uso terapêutico , Isotretinoína/uso terapêutico , Ritidoplastia/métodos , Colchicina/uso terapêutico , Doenças Raras , Doenças Raras/cirurgia , Doenças Raras/patologia , Fármacos Dermatológicos/uso terapêutico , Face/cirurgia , Ossos Faciais/cirurgiaRESUMO
El cutis verticis gyrata es una condición del cuero cabelludo caracterizada por pliegues convolutos y surcos profundos de piel engrosada que le confieren un aspecto cerebriforme. Puede ser congénito o adquirido y predomina en hombres. Se clasifica de acuerdo a suetiología en primario (esencial y no esencial) y secundario. En este último caso las patologíassubyacentes son diversas. Puede formar parte de varios síndromes. El tratamiento esquirúrgico y se realiza por motivos estéticos...
Assuntos
Humanos , Osteoartropatia Hipertrófica Primária/patologia , Couro CabeludoAssuntos
Osteoartropatia Hipertrófica Primária/diagnóstico , Bronquiectasia/complicações , Fibrose Cística/complicações , Dedos/patologia , Dedos/fisiopatologia , Humanos , Osteoartropatia Hipertrófica Primária/etiologia , Osteoartropatia Hipertrófica Primária/patologia , Osteoartropatia Hipertrófica Primária/fisiopatologia , Fibrose Pulmonar/complicaçõesRESUMO
Urticarial vasculitis is a rare clinicopathologic entity characterized by urticarial lesions that persist for more than 24 hours and histologic features of leukocytoclastic vasculitis. Patients can be divided into normocomplementemic or hypocomplementemic. The authors report the case of a healthy 49-year-old woman with a 1-year history of highly pruritic generalized cutaneous lesions and finger clubbing. Laboratory tests together with histopathologic examination allowed the diagnosis of hypocomplementemic urticarial vasculitis, chronic hepatitis C and type II mixed cryoglobulinemia. The patient started symptomatic treatment and was referred to a gastroenterologist for management of the hepatitis C, with progressive improvement of the skin condition. The development of hypocomplementemic urticarial vasculitis in the context of chronic hepatitis C is exceedingly rare and possible pathogenic mechanisms are discussed.
A vasculite urticariforme é uma entidade clinico-patológica rara caracterizada por lesões urticariformes com duração superior a 24 horas e uma vasculite leucocitoclásica na histologia. É dividida em normo e hipocomplementêmica. Os autores relatam o caso de uma mulher saudável de 49 anos, com lesões cutâneas intensamente pruriginosas e baqueteamento digital com 1 ano de evolução. O estudo efectuado permitiu efectuar os diagnósticos de vasculite urticariforme hipocomplementêmica, hepatite C crônica e crioglobulinêmia mista tipo II. A doente iniciou tratamento sintomático e foi referenciada para a Gastroenterologia para orientação da hepatite, com melhoria progressiva das lesões cutâneas. O desenvolvimento de vasculite urticariforme hipocomplementêmica no contexto de hepatite C crónica é raro e os possíveis mecanismos patogênicos são discutidos.
Assuntos
Feminino , Humanos , Pessoa de Meia-Idade , Crioglobulinemia/complicações , Hepatite C Crônica/complicações , Prurido/patologia , Urticária/patologia , Vasculite Leucocitoclástica Cutânea/patologia , Dedos/patologia , Osteoartropatia Hipertrófica Primária/patologia , Prurido/tratamento farmacológico , Prurido/etiologia , Pele/patologia , Fatores de Tempo , Resultado do Tratamento , Urticária/tratamento farmacológico , Urticária/etiologia , Vasculite Leucocitoclástica Cutânea/tratamento farmacológico , Vasculite Leucocitoclástica Cutânea/etiologiaRESUMO
Cardiac metastasis and hypertrophic osteoarthropathy are both quite rare. We describe a patient presenting with hypertrophic osteoarthropathy as the first symptom of recurrent infantile fibrosarcoma (IF). During surgical resection of lung metastasis, the patient suffered sudden cardiac arrest. Autopsy demonstrated a metastatic lesion in the intraventricular septum of the heart, which is previously undescribed in the literature. This case demonstrates that IF can be aggressive despite its more typical benign course.
Assuntos
Fibrossarcoma/patologia , Neoplasias Cardíacas/patologia , Neoplasias Cardíacas/secundário , Osteoartropatia Hipertrófica Primária/complicações , Osteoartropatia Hipertrófica Primária/patologia , Evolução Fatal , Feminino , Fibrossarcoma/cirurgia , Neoplasias Cardíacas/cirurgia , Humanos , Lactente , Neoplasias Pulmonares/patologia , Neoplasias Pulmonares/secundário , Neoplasias Pulmonares/cirurgia , Metástase Neoplásica , Osteoartropatia Hipertrófica Primária/cirurgiaRESUMO
A paquidermoperiostose é uma genodermatose rara, com apresentações clínicas variadas, que se apresenta com espessamento cutâneo, baqueteamento digital e periostose. Apresenta patogênese ainda incerta e acomete, principalmente, homens. Descreve-se caso de paciente com manifestações clínicas típicas e exuberantes e alterações radiológicas clássicas desta síndrome, em sua forma completa.
Pachydermoperiostosis is a rare genodermatosis with various clinical presentations that include pachydermia (thickening of the skin), finger clubbing and periostitis. Its pathogenesis is uncertain and the condition affects mainly men. This report describes the case of a patient with typical, exuberant skin manifestations and classic radiological findings of this syndrome in its complete form.
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Osteoartropatia Hipertrófica Primária , Osteoartropatia Hipertrófica Primária/patologia , SíndromeRESUMO
A case of pachydermoperiostosis presented to us in rheumatology clinic with complaints of pain and swelling in knee joints unresponsive to treatment, characteristic facial features, grade four clubbing of nails and broadening of distal parts of extremities. He also complained of fatiguability which was due to anemia. The natural history of the disease was reviewed and investigated.