Charcot’s osteoarthropathy – Lest we forget

Charcot’ osteoarthropathy (COA) is a rare, often misdiagnosed inflammatory debilitating complication of conditions most common being diabetes that needs to be discussed further to prevent associated morbidity. The natural history of the disease sees four stages and requires prompt diagnosis and treatment to ensure the desired outcome. We describe a case series of two cases of diabetes-associated osteoarthropathy and their management. A 72-year-old male with the early COA was managed with a total contact cast for both lower limbs and an 80-year-old male with the early COA with bone marrow edema in the tibia and talus, as well as, subtalar effusion, managed conservatively. The follow-up review documented clinical recovery in the form of a marked reduction in swelling of the lower limbs with the resolution of the functional status of lower limbs. It is the responsibility of every physician to ensure the goals of management which includes immediate offloading and good glycemic control.

A Survey of the Current Status of Surgical Treatment of Hemophilic Osteoarthropathy in China Mainland 17 Grade A General Hospitals / 罕见病研究

  Objective  To understand the current status of surgical treatment for hemophilia osteoarthropathy (HO) in China.  Methods  Using an online questionnaire, select domestic hospitals that partici-pated in the compilation of the 'Guideline for perioperative management of hemophilia patients undergoing orthopaedic surgery in China ', in addition to members of the National Joint Surgery Group, and the Orthopedic Branch of the Chinese Medical Association for targeted investigation and analysis.  Results  A total of 17 domestic hospitals were included, all of which were general hospitals. Hospitals that started HO surgery treatment before 2000 accounted for 35.29%. A total of 3057 surgical cases of HO were reported by those hospitals. The most commonly performed surgical procedures were hip and knee joint replacement. The most commonly used coagulation factor replacement regimen was recombinant coagulation factor preparation. Ten hospitals reported finding patients with transfusion-related infectious diseases. Bleeding and hematoma formation were the most frequently reported surgical complications. Excessive length of hospital stay and high economic costs were the most frequently reported problems.  Conclusions  Surgical treatment for HO in 17 hospitals is mainly carried out in some large comprehensive medical centers in the eastern region. Compared with the patient base, the popularity and number of surgeries are still relatively insufficient. It is necessary to further standardize the treatment system by standardizing factor replacement and strengthening rehabilitation to improve surgical treatment outcomes.

Enfermedad de Charcot de pie y tobillo en pacientes con diabetes mellitus: análisis de las causas de re consultas en una unidad de pie diabético hospitalaria / Charcot´s disease of the foot and ankle in diabetic patients: analysis of the reasons for re admission at the hospital diabetic unity / Neuroartropatía de Charcot do pé e tornozelo em pacientes com diabetes mellitus: análise das causas das novas consultas em uma unidade de pés diabéticos do hospital

La neuroartropatia de Charcot es una complicación devastadora para los pacientes diabéticos, generando deformidades osteoarticulares con riesgo de ulceración, infección y amputación de miembros inferiores. El objetivo fue analizar en una población de pacientes diabéticos con secuela de neuroartropatía de Charcot, el motivo de re consulta y los tratamientos a los que fueron sometidos. El mismo se realizó en forma retrospectiva mediante observación de historias clínicas y estudios radiológicos de 22 pacientes tratados entre 2014 y 2018 en el Hospital Policial de Montevideo - Uruguay, con un tiempo de evolución mínimo de un año al momento de la revisión. Se contó con la aprobación del Comité de Ética de dicho hospital habiéndose completado un formulario con datos demográficos, tratamiento inicial, causas de las re consultas y tratamientos secundarios. Si bien al inicio de la enfermedad se siguieron los protocolos de tratamiento con alto nivel de recomendación, se observaron en las re consultas elevados porcentajes de re ulceración y necesidad de cirugías complementarias (59%). Se vinculan los resultados a la falta de categorización de paciente de riesgo para lograr seguimiento y captación precoz. El categorizar al paciente de riesgo permite establecer estrategias de educación y de tratamientos tendientes a disminuir porcentajes de nuevas lesiones que lleven a la necesidad de tratamientos secundarios o amputaciones.

One of the most devastating complications within diabetic patients is Diabetic Charcot neuroarthropathy. It can lead to osteoarticular deformities, with risk of ulceration, infection or even lower limb amputation. In this paper, a population of diabetic patients with Charcot neuroarthropathy sequelae was studied. Data was analyzed on the reasons for the patients re consultation, the treatments they were subjected to and the obtained results. The study was conducted retrospectively by the examination of medical records from 22 patients that were treated between 2014 and 2018, with a follow-up of at least a year, at the Hospital Policial in Montevideo, Uruguay. Furthermore, it had the hospital's Ethics Committee approval. The data analysis was conducted by the completion of a form including demographic data, initial treatment, reasons for re consultation and secondary treatments. According to the findings, even though highly recommended protocols were followed at the onset of the disease, high percentage of ulceration and complementary surgeries were observed (59%) within the patient's data. The results are linked to the lack of risk patient´s categorization in order to achieve early uptake. Categorizing the patient at risk makes it possible to establish health education and treatment strategies aimed at reducing percentages of new injuries that lead to the need for secondary treatments or amputations.

A neuroartropatia de Charcot é uma complicação devastadora para os pacientes com diabetes, gerando deformidades osteoarticulares residuais com risco de úlceras, infecção e amputação maior dos membros inferiores. O objetivo foi analisar em uma população de pacientes diabéticos com sequelas da neuroartropatia de Charcot, o motivo da nova consulta e os tratamentos a que foram submetidos, bem como os resultados obtidos. Foi realizado retrospectivamente por meio de observação de histórias clinicas e estudos radiológicos de 22 pacientes atendidos no periodo de 2014 a 2018 no Hospital da Polícia de Montevidéu - Uruguai, com tempo de evolução mínimo de um ano na época da revisão. Foi aprovado pelo Comité de Ética do referido hospital, tendo sido preenchido um formulário com dados demográficos, tratamento inicial, causas das novas consultas e tratamentos secundários. Embora protocolos de tratamento com alto nível de recomendação tenham sido seguidos no início da doença, elevados percentuais de re ulcerações e cirurgias complementares (59%) foram observados nas novas consultas. Os resultados estão ligados à falta de categorização dos pacientes de risco para obter captação precoces A categorização do paciente de risco permite estabelecer estratégias de educação e tratamento com o objetivo de reduzir os percentuais de novas lesões que levam à necessidade de tratamentos secundários ou amputações.

The charcot joint osteoarthropathy: a case report

The Charcot Joint Osteoarthropathy also referred as Charcot foot syndrome is a serious lower limb-threatening complication of diabetes. A patient was diagnosed with Charcot joint osteoarthropathy (COA) and found to have uncontrolled Diabetes Mellitus since more than 10 years. This case is crucial considering that Diabetes mellitus is a common case that we encounter, but the consequences of not being controlled can lead to serious complications. Accurate diagnosis is not always easy and can be a considerable clinical challenge. It needs to be differentiated from other conditions that has similar symptoms. Early diagnosis and initiation of treatment is crucial to avoid devastating and permanent complications.

A case of elephant extremities in a Filipino male: Primary Familial Pachydermoperiostosis

@#This is a rare case of primary pachydermoperiostosis (PDP). A 28-year-old Filipino male presented with a lifelong history of enlarged hands and feet. He eventually developed symmetrical swelling of the ankles and knees associated with leg heaviness and knee pain with difficulty with ambulation, hence consult. His eldest brother also had the same “elephant-like” extremities. He had cutis vertices gyrata with a thickened corrugated hair pattern, deep lines on the forehead, deepened nasolabial folds, enlarged extremities especially distally, with coarse, thick skin, and prominent clubbing. The nails were convex “watch crystal-like.” The wrists, knees, and ankles were tender and enlarged, with massive effusion of the knees. All joints were devoid of warmth and erythema. Skeletal survey favored hypertrophic osteoarthropathy over acromegaly, with periosteal thickening of the metaphysis and digital clubbing. The filarial smear was negative for blood parasites. Skin biopsy showed keratoderma. Synovial fluid was non-inflammatory while arthroscopic synovial biopsy showed chronic inflammation eosinophilic amorphous tissue. Electrocardiogram, echocardiogram, thyroid function tests, complete blood count, peripheral blood smear, serum chemistries, coagulation tests, urinalysis, urine electrolytes, fecalysis, and chest CT scan were unremarkable. Whole abdomen ultrasound revealed the liver parenchymal disease. Hepatitis profile revealed chronic infection with hepatitis B, with low infectivity. The three major criteria for PDP (pachydermia, periostitis, and digital clubbing) were fulfilled. Possible secondary causes were either excluded or were non-contributory. He was started on analgesics and anti-inflammatory medicines. Repeated arthrocenteses drained liters of synovial fluid per knee, and along with intra-articular steroid injections and compressive bandages, temporarily relieved his bilateral knee pain. He was referred to rehabilitation to maximize his range of motion and to address body image issues. The patient remains on regular follow-up for periodic arthrocentesis. The option of anti-VEGF treatment and arthrotomy was explored as possibilities but were not deemed practical. PDP is a rare genodermatosis. Life span is not affected but the quality of life is dismal without supportive management, as there is no known cure. A multidisciplinary team composed of a rheumatologist, dermatologist, orthopedic surgeon, plastic surgeon, rehabilitation physician, and a psychiatrist should be available to assist in the needs of these patients.

Acropaquias: del signo a la enfermedad / Acropachy: From sign to disease

RESUMEN Las acropaquias, también llamadas dedos en palillo de tambor, se presentan como un aumento de la convexidad ungueal sobre una falange distal engrosada. Su origen es multifactorial, siendo la causa más frecuente las neoplasias, aunque también puede ser idiopático. Pueden encontrarse de forma aislada o formando parte de la osteoartropatía hipertrófica. La importancia de su diagnóstico radica en la alta frecuencia de enfermedad maligna subyacente, por lo que debe ser rápido y exhaustivo. Presentamos 2 casos de pacientes con acropaquias asociados a neoplasia subyacente.

ABSTRACT Acropachy, also called clubbed fingers, presents as increased nail convexity over a thickened distal phalanx. Its origin is multifactorial, with the most frequent cause being neoplasms, although it can also be idiopathic. They can be found in isolation, or as part of hypertrophic osteoarthropathy. The importance of its diagnosis lies in the high frequency of underlying malignant pathology, so it must be rapid and comprehensive. Two cases are presented of patients with acropachy associated with underlying neoplasia.

The mask of furrow: A case of a 28-year-old Filipino male with pachydermoperiostosis

@#Pachydermoperiostosis (PDP) or primary hypertrophic osteoarthropathy (PHO) is a rare genetic disorder that affects mainly skin and bones. Its main clinical features are pachyderma (thickening of the skin), periostosis ~excessiv~ bone formation) and clubbing of fingernails. The d1sea~e is more common among males with a 7:1 ratio, starts during adolescence and stabilize and cease progression after 5 - 20 years.@*OBJECTIVE@#To discuss the summary of the case, new management options, and outcomes of the management options.@*CASE SUMMARY (METHODS)@#A 28-year-old male presents with a 9-year history of wrinkling of his facial skin. Other associated symptoms were seborrhea, acne, clubbed fingers, and occasional minimal knee joint pain. Histopathology results showed thickened dermis, fibrosis of the papillary dermis and around the folliculosebaceous units, hyalinized collagen bundles involving the fibrous trabeculae of the subcutis, and prominence of sebaceous and eccrine glands. The patient was given oral isotretinoin at 0.5 mg/kg/day, underwent fractional CO~ laser f?r rhytides and large pores, and given botuhnum toxin A injection (total of 16 U) on 5 sites at the glabellar region. The patient was referred to plastic surgery for frontal rhytidectomy, and orthopedic surgery for management of joint pains.@*RESULTS@#The patient noted 80% improvement from baseline.@*CONCLUSION@#Treatment of pachydermoperiostosis is mainly symptomatic and requires a multi-spec~alty approach. Because of its rarity, treatment options for pachydermoperiostosis have yet to_ be standardized. In this particular case, all available options in the institution were utilized which led to satisfaction of the patient of the outcome.

Tríada de Herbst: una presentación inusual de una patología común. Reporte de caso / Herbst Triad: A rare clinical manifestation of a common pathology

Resumen La tríada de Herbst es una manifestación inusual de la enfermedad por reflujo gastroesofágico y de otras patologías esofágicas. Se caracteriza por la presencia de anemia, acropaquias (hipocratismo digital) y enteropatía perdedora de proteínas. Al ser una condición anecdótica, la información disponible deriva de los reportes de caso. La fisiopatología aún no es clara. Se reporta el caso de una escolar, en quien se revierten los síntomas una vez se realiza el manejo quirúrgico.

Abstract The Herbst triad is a rare manifestation of gastroesophageal reflux disease and other esophageal pathologies. It is characterized by the presence of anemia, digital clubbing, and protein-losing enteropathy. Since evidence on this condition is anecdotal, the available information is mostly derived from case reports and its physiopathology remains unclear. The following is the case of a schoolchild, whose symptoms were reversed once she underwent surgery.

Lifting frontal reverso: alternativa para o tratamento da paquidermoperiostose / Reverse frontal lifting: alternative for the treatment of pachydermoperiostosis

Introdução: Paciente com diagnóstico de paquidermoperiostose, apresentando forte manifestação cutânea, impossibilitando a correção do defeito pelas técnicas usuais de lifting facial. O lifting frontal reverso foi a técnica idealizada para o caso. É uma técnica inovadora, não havendo publicação prévia na literatura. Relato de caso: Paciente italiano, sexo masculino, 56 anos, apresentando síndrome de manifestação cutânea, em especial na região frontal da face, com pele inelástica de aspecto coriáceo, que gerava desconforto estético, ensejando um estigma sindrômico. Métodos: A técnica elaborada para este caso envolve incisão, que se inicia na raiz da hélice (ponto A), contorna o supercílio em linha sinuosa distando meio centímetro da implantação dos pelos da sobrancelha, indo até a região da glabela, curvando para a raiz do nariz e indo se encontrar com dimensões idênticas do outro lado. Do ponto A, também ascende uma linha curva inclinando-se para o sentido medial, com uma distância de 2cm. A intenção é diminuir a distância entre a área a ser tracionada e a área de incisão, a fim de obter maior tração, possibilitando assim a correção do aspecto da face em foco. Resultados: A tração caudal do retalho por incisão supraciliar possibilitou a correção do defeito em região frontal sem que houvesse alteração da linha de implantação capilar ou ascensão excessiva das sobrancelhas. Conclusão: A técnica de lifting frontal reverso foi criada para um caso específico de síndrome de paquidermoperiostose. Quando bem indicada esta técnica pode ser utilizada atingindo bons resultados.

Introduction: Patient diagnosed with pachydermoperiostosis, presenting a strong cutaneous manifestation, making it impossible to correct the defect by the usual facial lifting techniques. The reverse frontal facelift was the idealized technique for this case. It is an innovative technique, there being no previous publication in the literature. Case report: Italian male patient, 56 years old, with cutaneous manifestation syndrome, especially in the frontal region of the face, with leathery inelastic skin, which generated aesthetic discomfort, predisposing for a syndromic stigma. Methods: The technique developed for this case involves an incision, which starts at the root of the helix (point A), bypasses the eyebrow in a sinuous line distant half a centimeter from the implantation of the eyebrow hair, going to the glabella, curving towards the nasal root and going to meet identical dimensions on the other side. From point A, a curved line also leans towards the medial direction, at a distance of 2 cm. The intention is to reduce the distance between the area to be pulled and the incision area, in order to obtain more traction, thus enabling the correction of the aspect of the face in focus. Results: Caudal traction of the flap by a supraciliary incision made it possible to correct the defect in the frontal region without altering the capillary implantation line or causing excessive eyebrow rise. Conclusion: The reverse frontal lifting technique was created for a specific case of pachydermoperiostosis syndrome. When correctly indicated, this technique can be used to achieve good results.

Complete form of pachydermoperiostosis

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.

Hipocratismo digital: conociendo sus causas. Reporte de caso / Digital clubbing: knowing its causes. Case Report

Resumen Introducción. El hipocratismo digital es un signo clínico que afecta principalmente los dedos de las manos y se caracteriza por deformidad en uñas con abombamiento en vidrio de reloj. Puede presentarse en pacientes con cáncer diseminado, enfermedad pulmonar preexistente y dolor óseo, por lo cual es importante considerar esta entidad para un diagnóstico y un tratamiento oportunos. Presentación del caso. Paciente masculino de 86 años con hipocratismo digital, tabaquista en abstinencia, quien ingresa a urgencias por cuadro clínico de 2 meses de evolución consistente en fiebre y pérdida de 19kg de peso. Al examen físico presentaba disminución de ruidos respiratorios en base pulmonar derecha, dedos en palillo de tambor y deformidad ungüeal en manos. La radiografía de tórax mostró opacidad a nivel parahiliar derecho bien definida de 5cm. La tomografía computarizada de tórax mostró masas de bordes irregulares a nivel parahiliar derecho y en segmento apical del lóbulo inferior del pulmón derecho, y derrame pleural ipsilateral. La biopsia guiada por tomografía documentó adenocarcinoma pulmonar bien diferenciado. Conclusiones. El hipocratismo digital plantea un desafío en medicina debido a que puede ser difícil llegar a un diagnóstico etiológico y se pueden requerir muchos estudios para su confirmación.

Abstract Introduction: Digital clubbing is a clinical sign that affects mainly the fingers of the hands and is characterized by a watch-glass deformity of the nails. It may occur in patients with disseminated cancer, preexisting lung disease, and bone pain, so it is important to consider this entity for early diagnosis and timely treatment. Case presentation: This is the case of an 86-year-old male patient with digital clubbing, with tobacco abstinence, who was admitted to the emergency department due to clinical symptoms of 2 months of evolution consisting of fever and a 19kg weight loss. On physical examination, there was a decrease in respiratory noises in the right lung base, drumstick fingers, and nail deformity in the hands. A chest x-ray showed a well-defined right parahilar opacity of 5cm. a chest CT showed irregular masses at the right parahilar level and in the apical segment of the lower lobe of the right lung, and ipsilateral pleural effusion. CT-guided biopsy was performed, documenting well-differentiated pulmonary adenocarcinoma. Conclusions: Digital clubbing poses a challenge in medicine because reaching an etiological diagnosis may be difficult and many studies may be required for confirmation.

Mesotelioma pleural con manifestaciones paraneoplásicas de osteoartropatía hipertrófica / Pleural mesothelioma with paraneoplastic manifestations of hypertrophic osteoarthropathy

RESUMEN Se presenta un paciente exfumador de 65 años que, un año antes de comenzar las manifestaciones respiratorias, comenzó con dolores óseos erráticos, tratados con medicamentos comunes hasta que es atendido por disnea, tos y dolor torácico en el Hospital Básico San Antonio, ciudad de Riobamba, provincia de Chimborazo, Ecuador. El paciente presenta un gran derrame pleural, del cual obtienen 1500 ml de líquido serohemático, cuyo estudio citológico es positivo de malignidad. Se somete a cirugía, se confirma histológicamente mesotelioma maligno en etapa IV y se trata posteriormente con quimioterapia, pero el paciente empeora progresivamente hasta fallecer. Los autores resaltan que las manifestaciones paraneoplásicas del cáncer del pulmón son más frecuentes cuando la localización es parenquimatosa y no pleural, y llaman la atención sobre el hecho de que en este paciente comenzaron 1 año antes de que aparecieran los síntomas respiratorios.

ABSTRACT We present a 65-year-old ex-smoker patient, in which respiratory manifestations with erratic bone pain treated with common medications, began a year before he was atended for dyspnea, cough and chest pain at "San Antonio" Basic Hospital, Riobamba city, Chimborazo province, Ecuador. The patient presented a large pleural effusion of 1500 ml of serohematic fluid. Cytological study was positive for malignancy to rule out mesothelioma. Surgery was performed, histologically malignant mesothelioma was confirmed in stage IV and treated with chemotherapy. But the patient worsens progressively until death. Authors emphasized that lung cancer paraneoplastic manifestations were more frequent in not pleural and parenchymal location. They also called attention to patients´ symptoms, which began one year before the respiratory condition appeared.

Síndrome de touraine-soulente-golé: reporte de caso / Touraine -soulente-golé syndrome: case report

RESUMEN: La paquidermoperiostosis es un raro desorden hereditario caracterizado por periostosis, paquidermia y acropaquia. Su expresividad es variable, por lo que son infrecuentes las formas completas de este síndrome. Se postula que sus manifestaciones clínicas se debana la formaciónexcesiva de colágenoyla desregulacióndeproteínas de la matrizdebido a lahiperactivaciónfibroblástica. Reportamos el caso de un varón de 32 años, quien desde los 18 años presenta edema en extremidades asociado a alteraciones en cara y cuero cabelludo.Presentamos el caso por haberse manifestado deforma completa, que es infrecuente, y por su semejanza con otras enfermedades.

ABSTRACT: Pachydermoperiostosis or primary hypertrophic osteoarthropathy, also known as Touraine-Solente-Golé syndrome, is a rare disorder, frequently inherited, characterized by periostitis of long bones,pachydermia (thickening of the skin) andacropachia. Expression tends to be variable, and so complete versions of the syndrome are infrequent. Abnormalities in fibroblast functionality have been implicated, along with an increase in collagen fibers´ synthesis.We report the case of 32-year-old man that consulted for cutaneous manifestations (thickening of face, scalp, hands and feet´s skin) since 18 years-old. We highlight the importance of the complete form of presentation and due to its similarity to other diseases.

Clinical analysis of 20 cases of paraneoplastic syndrome with prominent osteoarticular involvement / 中华风湿病学杂志

Objective To investigate the clinical characteristics of paraneoplastic syndrome with prominent osteoarticular involvement. Methods The clinical materials of 20 patients with paraneoplastic syndrome with prominent osteoarticular involvement were collected. The characteristics of clinical manifest-ations, laboratory tests and imagines were analyzed. Results Among the 20 patients, 16 were male and 4 were female, with a mean age of 44.5 years and a median course of 6 months. Ten cases were associated with hematological tumor and 10 cases were associated with solid tumor. Eleven cases presented as peripheral arthritis (7 cases of polyarthritis, 4 cases of oligoarthritis/monoarthritis), 5 cases presented with hypertrophic osteoarthropathy (HOA) and 4 cases presented with tumor-induced osteomalacia (TIO). Three cases were acute lymphocytic leukemia, 2 cases were multiple myeloma, 1 case was lymphoma, and 1 case was bone tumor in polyarthritis. Four oligoarthritis cases were all associated with acute lymphocytic leukemia. All 5 cases of HOA were associated with lung cancer. All 4 cases of TIO were associated with tumor of mesenchymal tissue. Extra-articular manifestations presented in 14 cases and inflammatory markers increased in 15 cases. anti-cyclic cirullinated peptide (anti-CCP) antibodies was low titer positive in only 1 case and other parameters including rheumatoid factor (RF), anti-CCP antibodies, antinuclear antibodies spectrum (ANAs) and human leukocyte antigen (HLA)-B27 were negative. Multiple bone imaging abnormalities appeared in 15 cases. Conclusion Osteoarticular manifestations may be the first symptom of malignancy and difficult to diagnose. It is necessary to be highly aware of potential malignancy.

The clinical values of synovial volume measurement by MRI in patients with hemophilic arthropath receiving 32P radiation synovectomy / 中华放射学杂志

Objective To investigate the clinical value of eynovial membrane volume measurement by MRI in patients with hemophilic arthropathy receiving radionuclide synoviectomy. Methods Forty two patients,total 63 diseased joint,who hospitalized in the hemophilia diagnosis and treatment center of Henan Province People's Hospital were enrolled in the study after receiving both enhanced an non enhanded MRI, from May 2011 to January 2015.Sixteen patients(21 joints)were treated with 32P radionuclide synoviectomy (PRS)and followed up.The synovial membrane volume were evaluated by enhanced and non enhanded MRI before and after PRS. All data were analyzed by t test. Results The synovial membrane volume had no statistical difference by using the non enhanced(3 104.38±60.19)mm3and enhanced(2 995.19±59.14)mm3 MRI scans (t=-1.369, P=0.191). The synovial membrane volume post PRS (2 479.45 ± 46.48)mm3much lower than that before PRS (2 983.30 ± 42.87) mm3(t=7.831,P=0.000). The magnetic resonance enhanced range after PRS (0.92 ± 0.06) was significantly lower than that before treatment (1.17 ± 0.07) (t=2.108, P=0.048). Conclusion Synovial membrane volume and magnetic resonance enhanced range are important index to predict clinical efficacy of PRS.

Two cases of primary hypertrophic osteoarthropathy with SLCO2A1 gene mutations / 中南大学学报(医学版)

Two patients with primary hypertrophic osteoarthropathy (PHO) and their available healthy family members were studied.All exons of the SLCO2A1 and HPGD gene and adjacent exonintron sequences were amplified by PCR and subsequently sequenced.To assess the damaging effects of missense mutations in silico,the online database,PolyPhen-2 and SIFT were used.We identified two homozygous mutations in SLCO2A1 gene:one was c.1106G＞A (p.G369D) in exon 9,the other was c.611C＞T (p.S204L) in exon 4.No HPGD mutation was found in the affected individuals.The two mutation were predicted in silico by the bioinformatic tools.Our study further supports the role of mutations in the SLCO2A1 gene in the pathogenesis of PHO.Identification of the genotype in PHO may not only help the clinical diagnosis of PHO but also help the interpretation of genetic information for prenatal diagnosis and genetic counseling.

Osteoartropatía hipertrófica primaria y queratodermia palmoplantar: a propósito de un caso / Primary hypertrophic osteoarthropathy and palmoplantar keratoderma: a case report

La acropaquia es un trastorno que puede presentarse en forma aislada o formar parte del síndrome de osteoartropatía hipertrófica, entidad caracterizada por periostosis, dolor articular y acropaquia. Cuando este síndrome es causado por una mutación genética específica, se denomina osteoartropatía hipertrófica primaria. Este raro desorden hereditario se asocia, además, a alteraciones dermatológicas típicas, como hiperseborrea, acné, engrosamiento de pliegues faciales, entre otras. Una asociación rara vez descrita es la queratodermia palmoplantar. Se presenta el caso de una mujer de 46 años con osteoartropatía hipertrófica primaria asociada a queratodermia palmoplantar que asistió a la unidad de dermatología del Hospital Gustavo Fricke, Viña del Mar, Chile.

Clubbing is a disorder that can be an isolated finding or be part of the hypertrophic osteoarthropathy syndrome, an entity characterized by periostosis, joint pain and clubbing. When this syndrome is caused by a specific genetic mutation, it is called primary hypertrophic osteoarthropathy. This rare hereditary disorder is also associated with typical dermatological findings, such as hyperseborrhea, acne and facial feature coarsening. An association rarely described is palmoplantar keratoderma. We present the case of a 46-year-old woman with primary hypertrophic osteoarthropathy and palmoplantar keratoderma who came to the dermatology unit of Gustavo Fricke Hospital, Viña del Mar, Chile.

Blepharoptosis and hypertrophic osteoarthropathy: A case report.

A 52‑year‑old male patient presented to our hospital with a history of secondary hypertrophic osteoarthropathy (HOA) associated with an abdominal neoplasia and blepharoptosis. He had finger clubbing, hyperhidrosis, and hypertrichosis. He also had a recent history of extensive abdominal surgery with a pathology report of myelolipoma. Routine blood work was unremarkable. Upper eyelid reconstruction with blepharoplasty, upper eyelid wedge resection, and brow suspension was performed to address his eyelid concerns. By this case report, we would like to attract notice that the eyelid involvement may be a part of HOA and to emphasize the importance of systemic and pathologic evaluation in failed blepharoptosis surgery.

A case of pachydermoperiostosis caused by a deletion mutation in the HPGD gene / 中华皮肤科杂志

Objective To confirm a case of pachydermoperiostosis (primary hypertrophic osteoarthropathy) at the molecular level by gene sequencing.Methods Peripheral blood samples were obtained from a 26-year-old male patient with pachydermoperiostosis and his parents,and DNA was extracted from these blood samples.Polymerase chain reaction (PCR) was performed to amplify all the exons of HPGD and SLCO2A1 genes,and gene sequencing to identify gene mutations.According to sequencing results,the spatial structure of relevant proteins was predicted.Results Gene sequencing showed a homozygous frame-shifting mutation c.310_31 1delCT (p.L104AfsX3) in exon 3 of the HPGD gene in the patient.His mother was a heterozygous carrier of the mutation,but no mutation was identified in his father.The prediction of spacial structure of proteins revealed that the above gene mutation could shorten the length of the encoded peptide by about 60％.Conclusion Typical clinical manifestations and imaging findings are helpful for the primary diagnosis of pachydermoperiostosis,while mutation analysis of HPGD and SLCO2A1 genes is a main approach to its final diagnosis.

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

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.