ABSTRACT
Primary hypertrophic osteoarthropathy (PHO) is a genetic disorder mainly characterized by clubbing fingers, pachydermia and periostosis. Mutations in the HPGD or SLCO2A1 gene lead to impaired prostaglandin E2 (PGE2) degradation, thus elevating PGE2 levels. The identification of the causative genes has provided a better understanding of the underlying mechanisms. PHO can be divided into three subtypes according to its pathogenic gene and inheritance patterns. The onset age, sex ratio and clinical features differ among subtypes. The synthesis and signaling pathways of PGE2 are outlined in this review. Cyclooxygenase-2 (COX-2) is the key enzyme that acts as the rate-limiting step for prostaglandin production, thus COX-2 inhibitors have been used to treat this disease. Although this treatment showed effective results, it has side effects that restrain its use. Here, we reviewed the genetics, clinical features, differential diagnosis and current treatment options of PHO according to our many years of clinical research on the disease. We also discussed probable treatment that may be an option in the future.
Subject(s)
Drug-Related Side Effects and Adverse Reactions , Organic Anion Transporters , Osteoarthropathy, Primary Hypertrophic , Humans , Dinoprostone , Osteoarthropathy, Primary Hypertrophic/diagnosis , Osteoarthropathy, Primary Hypertrophic/genetics , Osteoarthropathy, Primary Hypertrophic/therapy , Cyclooxygenase 2 , Diagnosis, DifferentialSubject(s)
Osteoarthropathy, Primary Hypertrophic , Osteoarthropathy, Secondary Hypertrophic , Diagnosis, Differential , Humans , Osteoarthropathy, Primary Hypertrophic/diagnosis , Osteoarthropathy, Primary Hypertrophic/genetics , Osteoarthropathy, Primary Hypertrophic/therapy , Osteoarthropathy, Secondary Hypertrophic/diagnosis , VietnamABSTRACT
Patients with chronic enteropathy associated with SLCO2A1 (CEAS) develop multiple circular, longitudinal, or eccentric ulcers in the ileum. It is sometimes difficult to distinguish CEAS from Crohn's disease. CEAS and primary hypertrophic osteoarthropathy (PHO) are together known to be caused by a mutation of SLCO2A1 gene. The case of a 65-year-old man whose characteristic appearance due to pachydermia of the forehead folds led to the diagnosis of CEAS with PHO is presented.
Subject(s)
Facial Asymmetry/diagnosis , Intestinal Diseases/diagnostic imaging , Organic Anion Transporters/genetics , Osteoarthropathy, Primary Hypertrophic/diagnosis , Osteoarthropathy, Primary Hypertrophic/therapy , Parenteral Nutrition , Aged , Chronic Disease , Diagnosis, Differential , Humans , Male , Osteoarthropathy, Primary Hypertrophic/genetics , Treatment OutcomeSubject(s)
Genetic Predisposition to Disease , Osteoarthropathy, Primary Hypertrophic/genetics , Adult , Disease Progression , Humans , Intramolecular Oxidoreductases/genetics , Male , Mutation , Osteoarthropathy, Primary Hypertrophic/diagnostic imaging , Osteoarthropathy, Primary Hypertrophic/therapy , Pedigree , Prognosis , Radiography/methods , Rare Diseases , Risk AssessmentSubject(s)
Bortezomib/therapeutic use , Graves Ophthalmopathy/diagnosis , Myxedema/diagnosis , Myxedema/drug therapy , Osteoarthropathy, Primary Hypertrophic/diagnosis , Strabismus/surgery , Adult , Follow-Up Studies , Graves Ophthalmopathy/complications , Graves Ophthalmopathy/therapy , Humans , Leg Dermatoses/complications , Leg Dermatoses/diagnosis , Leg Dermatoses/drug therapy , Male , Myxedema/complications , Osteoarthropathy, Primary Hypertrophic/complications , Osteoarthropathy, Primary Hypertrophic/therapy , Rare Diseases , Risk Assessment , Strabismus/complications , Strabismus/diagnosis , Thyrotropin/blood , Treatment OutcomeABSTRACT
BACKGROUND: Primary hypertrophic osteoarthropathy also known as pachydermoperiostosis is a rare genetic disorder that has often been confused with acromegaly because of similar clinical features. Vascular endothelial growth factors which have been implicated in the clinical features of pachydermoperiostosis, have also been shown to be present in chronic hepatitis and implicated in the malignant transformation of hepatitis B infection to hepatocellular carcinoma. To the best of our knowledge there is one reported case of pachydermoperiostosis with chronic hepatitis B infection. We do not imply a causal relationship between pachydermoperiostosis and hepatitis B infection because pachydermoperiostosis is a genetic disorder; however, the question is raised whether hypertrophic osteoarthropathy is one of the many extrahepatic manifestations of chronic hepatitis B infection. CASE PRESENTATION: A 21-year-old African (Ghanaian) man with chronic hepatitis B infection was referred to our Endocrine unit as having acromegaly with changing facial features, enlarging hands and feet, and large knee joint effusions which affected activities of daily living. He was finally diagnosed as having pachydermoperiostosis when acromegaly, rheumatological disorders, as well as cardiopulmonary disorders were ruled out. He improved with arthrocentesis, a tapering regime of steroids, non-steroidal anti-inflammatory drugs, and proton pump inhibitors. CONCLUSIONS: The possible role of hepatitis B in hypertrophic osteoarthropathy, that is, secondary hypertrophic osteoarthropathy, needs to be explored; however, with digital clubbing in his father our patient is likely to have pachydermoperiostosis.
Subject(s)
Acromegaly/diagnosis , Activities of Daily Living/psychology , Depression/diagnosis , Face/abnormalities , Hepatitis B, Chronic/diagnosis , Osteoarthropathy, Primary Hypertrophic/diagnosis , Social Stigma , Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Diagnosis, Differential , Face/pathology , Foot Deformities, Congenital , Hand Deformities, Congenital , Humans , Male , Osteoarthropathy, Primary Hypertrophic/physiopathology , Osteoarthropathy, Primary Hypertrophic/psychology , Osteoarthropathy, Primary Hypertrophic/therapy , Physical Therapy Modalities , Proton Pump Inhibitors/therapeutic use , Radiography , Steroids/therapeutic use , Treatment Outcome , Young AdultABSTRACT
RATIONALE: Pachydermoperiostosis (PDP) is a rare hereditary disorder that affects the skin and bones. PDP is characterized by periostosis, digital clubbing, and pachydermia. Previous studies demonstrated that increased prostaglandin E2 (PGE2) levels resulting from defective protein degradation pathways play a crucial role in PDP pathogenesis, and males were more commonly and severely affected than females. Moreover, nearly all PDP patients suffer from refractory arthralgia. Although several different treatment modalities are used for PDP, therapy for this disease remains challenging. PATIENTS CONCERNS: Two cases of PDP showing symptoms consistent with polyarthritis and arthralgia that mainly affected the knees and ankles. DIAGNOSES: The diagnostic criteria for PDP include digital clubbing, periostosis, and pachydermia. The 2 patients were diagnosed as PDP based on the finger clubbing, facial cutis furrowing, knee and ankle arthritis, and radiographic evidence of periosteal proliferation. INTERVENTIONS: Patient 1 had massive joint effusion that was treated by oral administration of etoricoxib and aescin combined with arthroscopic synovectomy, whereas Patient 2 had mild joint swelling and accepted only oral medication. OUTCOMES: Clinical symptoms of the 2 patients greatly improved after the treatment. During the 1-year follow-up, the patient experienced no adverse effects or recurrence. LESSONS: The therapeutic results showed that oral etoricoxib could reduce inflammation and retard progression of pachydermia, or even relieve facial skin furrowing, but had limited efficacy for arthralgia. However, oral aescin had satisfactory efficacy for arthralgia. Thus, etoricoxib combined with aescin is a safe and effective treatment for PDP. Meanwhile, arthroscopic synovectomy can be used to treat joint effusion, but had no therapeutic effect on arthralgia. Therefore, postoperative oral medications would be needed as subsequent therapy for joint problems. In conclusion, this study proposes an effective and safe treatment plan to address symptoms experienced by PDP patients.
Subject(s)
Cardiovascular Agents/administration & dosage , Cyclooxygenase 2 Inhibitors/administration & dosage , Escin/administration & dosage , Osteoarthropathy, Primary Hypertrophic/therapy , Pyridines/administration & dosage , Sulfones/administration & dosage , Synovectomy/methods , Arthroscopy , Combined Modality Therapy , Etoricoxib , Humans , Male , Treatment Outcome , Young AdultSubject(s)
Hematopoiesis, Extramedullary/genetics , Laminectomy/methods , Osteoarthropathy, Primary Hypertrophic/diagnosis , Primary Myelofibrosis/diagnosis , Spinal Cord Compression/diagnostic imaging , Spinal Cord Compression/surgery , Adult , Decompression, Surgical/methods , Follow-Up Studies , Humans , Magnetic Resonance Imaging/methods , Male , Osteoarthropathy, Primary Hypertrophic/complications , Osteoarthropathy, Primary Hypertrophic/therapy , Prednisone/therapeutic use , Primary Myelofibrosis/complications , Primary Myelofibrosis/therapy , Rare Diseases , Risk Assessment , Severity of Illness Index , Spinal Cord Compression/complications , Treatment OutcomeABSTRACT
Pachydermoperiostosis is a rare genetic disease characterized by finger clubbing, periostosis, cutis verticis gyrata and pachydermia accompanied by acroosteolysis and hyperhidrosis. Recently, two susceptibility genes, HPGD and SLCO2A1, have been identified, whose protein products are involved in the transportation of prostaglandin and metabolism underlying pachydermoperiostosis. Here the genetic basis of pachydermoperiostosis and its correlation with its clinical phenotype are reviewed, which may provide a reference for basic research and clinic diagnosis for the disease.
Subject(s)
Osteoarthropathy, Primary Hypertrophic/genetics , Animals , Humans , Hydroxyprostaglandin Dehydrogenases/genetics , Organic Anion Transporters/genetics , Osteoarthropathy, Primary Hypertrophic/diagnosis , Osteoarthropathy, Primary Hypertrophic/therapy , PhenotypeSubject(s)
Genetic Predisposition to Disease , Hand/diagnostic imaging , Osteoarthropathy, Primary Hypertrophic/genetics , Adult , Hand/pathology , Humans , Male , Monitoring, Physiologic , Osteoarthropathy, Primary Hypertrophic/diagnostic imaging , Osteoarthropathy, Primary Hypertrophic/physiopathology , Osteoarthropathy, Primary Hypertrophic/therapy , Prognosis , Radiography , Rare Diseases , Risk Assessment , Severity of Illness IndexABSTRACT
No disponible
Subject(s)
Humans , Male , Child , Osteoarthropathy, Primary Hypertrophic/chemically induced , Osteoarthropathy, Primary Hypertrophic/complications , Osteoarthropathy, Primary Hypertrophic/diagnosis , Hodgkin Disease/diagnosis , Hodgkin Disease/nursing , Pharmaceutical Preparations/administration & dosage , Osteoarthropathy, Primary Hypertrophic/drug therapy , Osteoarthropathy, Primary Hypertrophic/rehabilitation , Osteoarthropathy, Primary Hypertrophic/therapy , Hodgkin Disease/complications , Pharmaceutical PreparationsSubject(s)
Cyanosis/diagnosis , Ductus Arteriosus, Patent/diagnosis , Imaging, Three-Dimensional , Osteoarthropathy, Primary Hypertrophic/diagnosis , Adolescent , Cyanosis/etiology , Cyanosis/therapy , Diagnosis, Differential , Ductus Arteriosus, Patent/complications , Ductus Arteriosus, Patent/therapy , Dyspnea/diagnosis , Dyspnea/etiology , Echocardiography, Doppler , Electrocardiography/methods , Fingers/blood supply , Humans , Male , Osteoarthropathy, Primary Hypertrophic/complications , Osteoarthropathy, Primary Hypertrophic/therapy , Radiography, Thoracic/methods , Severity of Illness Index , Toes/blood supplyABSTRACT
This article presents an updated overview of hypertrophic osteoarthropathy and digital clubbing for the practicing rheumatologist. Discussion includes a brief historical perspective, its definition, incidence and prevalence, classification, pathology and pathophysiology, clinical manifestations, demographics, findings on physical examination, imaging techniques for its detection, differential diagnosis, and treatment modalities.
Subject(s)
Osteoarthropathy, Primary Hypertrophic , Osteoarthropathy, Secondary Hypertrophic , Rheumatology/methods , Diagnosis, Differential , Disease Management , Humans , Osteoarthropathy, Primary Hypertrophic/diagnosis , Osteoarthropathy, Primary Hypertrophic/epidemiology , Osteoarthropathy, Primary Hypertrophic/physiopathology , Osteoarthropathy, Primary Hypertrophic/therapy , Osteoarthropathy, Secondary Hypertrophic/diagnosis , Osteoarthropathy, Secondary Hypertrophic/epidemiology , Osteoarthropathy, Secondary Hypertrophic/physiopathology , Osteoarthropathy, Secondary Hypertrophic/therapyABSTRACT
Pachydermoperiostosis (PDP), also known as primary hypertrophic osteoarthropathy, is a rare disease of the skin and bones that has clear genetic predisposition and well-defined clinical features. PDP is characterised by the presence of exuberant skin hypertrophy that, at the most distal parts of the extremities, takes a drumstick configuration. This deformity is conventionally known as digital clubbing. In advanced stages, skin hypertrophy may also be present in the head with furrowing of the facial features and eyelids ptosis. Another characteristic feature of the disease is periosteal proliferation of the long bones. Abnormal vascular endothelial growth factor and/or genetically determined prostaglandins overexpression may play a key role on its pathogenesis. No therapy has been shown to be effective in reversing hypertrophic changes. When bone pain is present, non-steroidal anti-inflammatory drugs are frequently useful. Isolated case reports have described that bisphosphonates may ease recalcitrant bone pain.
Subject(s)
Osteoarthropathy, Primary Hypertrophic/etiology , Diagnosis, Differential , Female , Humans , Male , Osteoarthropathy, Primary Hypertrophic/diagnosis , Osteoarthropathy, Primary Hypertrophic/therapy , PrognosisABSTRACT
The following case of a 37-year-old male describes a very rare form of psoriasis known as psoriatic onychopachydermoperiostitis. There have been fewer than 20 cases reported worldwide.
Subject(s)
Arthritis, Psoriatic/diagnosis , Osteoarthropathy, Primary Hypertrophic/diagnosis , Periostitis/diagnosis , Adult , Arthritis, Psoriatic/etiology , Arthritis, Psoriatic/therapy , Humans , Male , Osteoarthropathy, Primary Hypertrophic/etiology , Osteoarthropathy, Primary Hypertrophic/therapy , Periostitis/etiology , Periostitis/therapy , SyndromeABSTRACT
Apresentamos o caso de um paciente com baqueteamento digital e artrite que foi diagnosticado como tendo osteoartropatia hipertrófica primária. Essa é uma doença rara e benigna. Entretanto, artralgia e alterações cutâneas podem reduzir significativamente a qualidade de vida do paciente. Além de um breve resumo da doença, apresentamos o caso e a revisão da literatura, enfatizando o tratamento dessa condição para os clínicos em geral.
We report the case of a patient with clubbing of the digits and arthritis who was diagnosed as having primary hipertrophic osteoarthropathy. This is a rare, benign disease. However, the arthralgia and skin changes can significantly impair the quality of life of the patient. In addition to a brief description of the disease, we present the case and a review of the literature regarding the treatment of this condition to the general practitioner.
Subject(s)
Humans , Male , Adult , Arthralgia , Pain/therapy , Osteoarthropathy, Primary Hypertrophic/therapyABSTRACT
La paquidermoperiostosis u osteoartropatía hipertrófica primaria, también conocida por síndrome de Touraine-Solente-Golé, es un proceso infrecuente, a menudo hereditario. Se caracteriza en su forma completa por paquidermia (engrosamiento cutáneo), alteraciones óseas (periostosis) y acropaquia (dedos en palillo de tambor). Se presenta un caso, cuyo motivo de consulta fueron los síntomas óseos, habiendo pasado desapercibidas, por su desarrollo lento y progresivo, la acropaquia y las manifestaciones cutáneas (engrosamiento en la piel de la cara, cuero cabelludo, manos y pies). Revisamos los rasgos fundamentales de este síndrome. Destacamos la importancia de descartar las formas secundarias de osteoartropatía hipertrófica y hacer un seguimiento de estos pacientes por las complicaciones que, a largo plazo, pueden desarrollar
Pachydermoperiostosis or primary hypertrophic osteoarthropathy, also known as Touraine-Solente- Golé syndrome, is a rare process, frequently inherited. In its complete form it is characterized by pachydermia (thickening of the skin), skeletal changes (periostosis) and acropachia (digital clubbing). We report a patient that consulted for skeletal symptoms, as the acropachia and cutaneous manifestations (thickening of the skin of the face, scalp, hands and feet) went unnoticed due to their slow and progressive development. We review the characteristic features of this syndrome. We highlight the importance of ruling out secondary forms of hypertrophic osteoarthropathy and of a close follow-up of these patients because of complications that might develop on the long-term
Subject(s)
Male , Middle Aged , Humans , Osteoarthropathy, Primary Hypertrophic/complications , Osteoarthropathy, Primary Hypertrophic/diagnosis , Osteoarthropathy, Primary Hypertrophic/therapy , Hyperostosis/complications , Hyperostosis/diagnosis , Periostitis/complications , Periostitis/diagnosis , Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Colchicine/therapeutic use , Isotretinoin/therapeutic use , Ectodermal Dysplasia/complications , Skull , Hand , Foot , Biopsy/methodsSubject(s)
Exophthalmos , Graves Disease , Myxedema , Autoantibodies , Diagnosis, Differential , Exophthalmos/diagnosis , Exophthalmos/etiology , Exophthalmos/therapy , Graves Disease/diagnosis , Graves Disease/etiology , Graves Disease/therapy , Humans , Immunoglobulins, Thyroid-Stimulating , Myxedema/diagnosis , Myxedema/etiology , Myxedema/therapy , Osteoarthropathy, Primary Hypertrophic/diagnosis , Osteoarthropathy, Primary Hypertrophic/etiology , Osteoarthropathy, Primary Hypertrophic/therapy , Prognosis , Receptors, Thyrotropin , SyndromeABSTRACT
Pachydermoperiostosis or primary hypertrophic osteoarthropathy is a rare disease characterized by cutaneous and osteoarthicular involvement. We describe two patients with finger clubbing, watch crystal nails, bones thickenings, arthritis and different grades of skin affection, without other clinical manifestations. Both did not know of having relatives with the same alterations. Radiological studies of the affected areas showed periostosis. Because of normal laboratory results and chest radiography plus the absence of other underlying causes, diagnosis of primary hypertrophic osteoarthropathy was made.