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.

Pachydermoperisotosis: A Rare Case Report

Pachydermoperiostosis (PDP) is a rare disorder with variable presentation and it is characterized by clubbing of the fingers (acropachia), skeletal changes (periostosis), thickening of the skin (pachyderma), and excessive sweating (hyperhidrosis). Clinical presentations of PDPcan be confused with secondary hypertrophic osteoarthropathy, psoriatic arthritis, rheumatoid arthritis, thyroid acropachy, and acromegaly. We report a patient with complete PDP.

A hospital based cross sectional study of clinical picture and spirometry pattern on interstitial lung diseases at a tertiary care centre

Background: Many of the ILDs are difficult to differentiate on clinical examination and history as they have similar clinical features. Symptom complex is not beyond that of respiratory symptoms. The objective was to study the clinical picture and spirometry pattern of the patients having interstitial lung disease.Methods: Hospital based cross sectional study was carried out among 73 cases of ILDs. Data related to history, clinical examination was recorded. Six minute walk test and spirometry was carried out. The data was analysed using proportions.Results: Incidence of Idiopathic pulmonary fibrosis (IPF) increased with age. Exertional dyspnea (100%) and cough (95.9%) were the commonest presenting symptoms amongst ILD patients. End inspiratory fine crackles (95.1%) and clubbing (67.1%) are the predominant clinical signs. Mean BMI of various ILDs patients were 24.86±8.2 Kg/m² in NSIP followed by 22.9±4.6 in sarcoidosis 21.9±6.4 and 20.8±3.94 in IPF and in Cryptogenic Organizing Pneumonias 19.34±1.8 Kg/M². Serum ACE level was raised in 69.2% patients of sarcoidosis. 81 % of patients could successfully perform 6 Minute Walk Test. Among those who could perform, average desaturation was 8.11% in sarcoidosis, 7.52% in IPF, 6.0% In Hypersensitivity Pneumonitis, 5.75% in NSIP and 4.75% in CTD associated ILDs patients. Raised C Reactive Protein label was consistent (45.2%) in ILDs, maximum in HP (63%) and 2 out of 3 patients with COP and 3 out of 5 patients of CTD associated ILDs. 17.8% cases had positive serum ANA, maximum in IPF.Conclusions: Idiopathic pulmonary fibrosis (IPF) was the commonest Interstitial Lung disease present in 39.7% of 73 cases followed by sarcoidosis in 17.9%, cases.

A Surgical Case of Residual Axillary Artery Aneurysm Associated with Kawasaki Disease / 日本心臓血管外科学会雑誌

<p>We herein report on a case in which we conducted bypass surgery for occlusion of a left axillary artery aneurysm with ischemic symptoms 21 years after the contraction of Kawasaki disease and achieved symptomatic improvement. The case involved a 22-year-old man who had been suffering from Kawasaki disease since the age of one. He had been undergoing antiplatelet therapy for bilateral axillary artery aneurysms by orally taking aspirin for 20 years. He suffered from symptoms of upper limb ischemia 21 years after receiving a diagnosis of peripheral aneurysms and occlusion of a left axillary artery aneurysm upon 3DCTA. We conducted aneurysmotomy, plication, and bypass surgery between the axillary and brachial arteries via the autologous vein. Pathological examination revealed due to the formation of atheroma in the tunica intima and disarrangement of the layer structure in the tunica media : thickening of the tunica media was partially observed. His fatigue upon exertion of his left upper extremity remarkably improved following surgery. Although peripheral aneurysms associated with Kawasaki disease are rare, as seen in this case, peripheral arterial disease remains and progresses even after long periods of time. It is believed necessary to carry out long term follow-up and examine the approaches to therapy including surgery in accordance with the site and degree of the disease.</p>

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.

Platypnea-Orthodeoxia Syndrome Two Decades after Definitive Surgical Repair of Pulmonary Atresia with Intact Ventricular Septum

A 20-year-old female had undergone definitive surgical repair for pulmonary atresia with intact ventricular septum soon after birth. She was referred to our institution with the chief complaint of clubbing fingers. A thorough examination revealed platypnea-orthodeoxia syndrome due to an interatrial right-to-left shunt through a secundum atrial septal defect. Percutaneous closure with an Amplatzer Septal Occluder resulted in resolution of the syndrome.

Chronic Hypoxemia in a Child: Thinking Outside the Box.

Background: Chronic hypoxemia is generally attributed to primary cardiac or pulmonary entities. Case characteristics: A 9-year-old boy presenting with cyanosis, clubbing and hypoxemia, without icterus or hepatosplenomegaly. Cardiovascular and respiratory system examinations were normal. Outcome: He was diagnosed as type IB Abernethy malformation, a rare cause of hepatopulmonary syndrome. Message: Pediatricians should consider hepatopulmonary syndrome in the differential diagnosis of chronic hypoxemia, even in the absence of jaundice or hepatosplenomegaly.

Idiopathic digital clubbing “An incidental clinical finding.

Clubbing of the nails is a bulbous uniform thickening of the soft tissues of the terminal phalanx of a digit with subsequent loss of the normal angle between the nail and nailbed. It may be primary (hereditary or idiopathic) or secondary to disorders of the multiple organ systems. A male, aged 45 years, detected to be a case of idiopathic digital clubbing, noticed by the individual during early adolescence, is presented herewith.

Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia / 中南大学学报(医学版)

Objective:Mutation in the gap junction beta 6 (GJB6) gene has been reported to be associated with an autosomal dominant disorder hidrotic ectodermal dysplasia (HED), characterized by congenital nail clubbing, alopecia and palmoplantar keratoderma. The aim of this study is to investigate relationship between genetic mutation in GJB6 and HED in an affected Chinese family. Methods:We selected a Chinese HED family consisting of a total of 17 individuals including 8 HED patients (5 males and 3 females). The whole coding region of GJB6 was amplified by polymerase chain reaction and sequenced. Results:Sequence analysis identified a heterozygous missense mutation c.31G>A (p.G11R) in GJB6 gene of affected individuals, but not in healthy individuals. Conclusion:A c.31G>A (p.G11R) missense mutation in GJB6 gene is the genotypic characteristic for HED in Chinese population.

THE BLUE MAN WHO PRESENTED WITH A STROKE

A 19-year-old man presented with sudden onset of right eye ptosis, diplopia and giddiness. He had no previous medical illnesses with negative history of exertional dyspnoea, epistaxis, haemoptysis, palpitations, chest pain and chronic cough. Examination revealed central cyanosis, digital clubbing, polycythaemia, partial ptosis of right eye, diplopia on right gaze and dilated right pupil. Examination of the chest revealed pectus excavatum but no cardiac murmurs were heard. Investigations revealed a solitary right pulmonary arteriovenous malformation with two feeder vessels which were successfully embolized surgically.

Hipocratismo digital em pacientes com fístula arteriovenosa e insuficiência renal crônica

Introdução: A associação entre hipocratismo digital (HD) e doença subjacente é reconhecida desde a época de Hipócrates. A fistula arteriovenosa desperta significativo interesse, principalmente pelo fato de nesses casos a incidência de hipocratismo ser unilateral. Objetivos:Descrever a prevalência de hipocratismo digital em pacientes com insuficiência renal crônica e fístula arteriovenosa (FAV). Descrever as relações entre as variáveis sociodemográficas, clínicas e laboratoriais e a presença de HD. Métodos: Foi realizado um estudo transversal em90 indivíduos nefropatas crônicos, maiores de 18 anos, em hemodiálise por FAV na Clínica de Doenças Renais de Tubarão ? SC ? Ltda. Foram excluídos aqueles em uso de catéter venoso central, portadores de cardiopatia congênita, e os que se recusaram a participar do estudo.Com a utilização de um paquímetro, foi mensurada a espessura da falange distal e da articulação interfalangeana distal do dedo indicador, e a razão entre elas foi chamada de índice digital. Valores maiores ou iguais a 1foram considerados como presença de HD. Foram avaliadas as variáveis idade, gênero, grupo étnico, hábito tabágico, etiologia da insuficiência renal crônica, tempo de diálise, tempo de fístula, tempo de maturação da fístula, localização da fístula, velocidade do fluxo, freqüência semanal de diálise, cálcio, fósforo, potássio, hematócrito, hemoglobina, clereance fracional de uréia (Kt/V) e paratormônio. Resultados: A maioria das participantes eram homens (46,7%), caucasianos (87,8%), não tabagistas (60,7%), em hemodiálise há mais de um ano (80,5%), com FAVlocalizada no membro superior esquerdo (80%). A prevalência de HD foi de 30,3%. O gênero feminino apresentou uma prevalência de HD quase duas vezes maior comparada ao gênero masculino (RP= 1,97; IC 95%:1,02- 3,78; p 0,036). O Kt/V baixo/normal (<1,2) apresentousecomo um fator de proteção para HD, sendo cerca de 80% menor quando comparado aos pacientes com Kt/V ideal/elevado (>1,2) (RP = 0,23; IC 95%:0,06-0,89; p = 0,008). Conclusões: A prevalência de HD foi de 30,3%.A prevalência de HD unilateral na mão da FAV foi de 23,5%.

Introduction: The association between digital clubbing (DC) and subjacent diseases is recognized since the time of Hippocrates. One of the entities associated with DC that generates significant interest is arteriovenousfistula (AVF), especially because in these cases it is found to be unilateral.Objectives: To describe the prevalence of DC in patients with chronic renal failure and AVF. Describe the relationship between the socio-demographic, clinical, and laboratorial variables and HD. Methods: A cross sectional study was conducted with 90 patients, aged over 18 years, undergoing hemodialysis via AVF in the Kidney Disease Clinic of Tubarão, Santa Catarina. Patients with congenital heart disease, those in use of central venous catheter, and those who refused to participate in the study,were excluded. With the use of a caliper, the thickness of the distal phalange and the interphalange articulation of the index finger were measured; the ratio between them was established as the digital index. Values greater than or equal to 1 were considered as presence of HD.Variables including age, gender, ethnic group, smoking habit, etiology of the chronic renal failure, time of dialysis, time of fistula, time of fistula maturation, location of the fistula, flux velocity, weekly frequency of dialysis, Ca++, phosphorus, haematocrit, hemoglobin, Kt/V, PTH, and K+ were evaluated. Results: Most participants were men (46.7%), Caucasian (87.8%), non-smokers (60.7%), on hemodialysis for more than a year (80.5%), with arteriovenous fistula located on the left arm (80%). The prevalence of DC was 30.3%. Females showed a prevalence of HD almosttwo times higher compared to males (RP=1.97; CI 95%: 1.02-3.78; p = 0.036). The Kt/V low/normal (<1.2) revealed as a protective factor for HD, with about 80% lower when compared to patients with Kt/V ideal/high(>1.2) (RP = 0.23; CI 95%: 0.06?0.89; p = 0.008). Conclusion: Prevalence of DC was 30.3%. Prevalence of unilateral DC on the AVF hand was 23.5%.

A case of primary hypertrophic osteoarthropathy with literature review / 中华风湿病学杂志

Objective To improve the understanding and diagnosis of primary hypertrophic os-teoathropathy(PHO).Methods A case of PHO was reported.The clinical data and the process of the diagno-sis and treatment was analyzed retrospectively,and the related literature were reviewed.Results The patient was a young man without family history of PHO.He had symptoms since age 16.He had clubbing fingers and toes,hypertrophic skin,joint swelling,hyperhidrosis and radiographic evidence of periostitis.Thus the disease was diagnosed as PHO.The patient was treated with NSAIDs and the symptoms relieved very quickly.Conclusion Radiographic examination should be taken in time when young males have the general characters of clubbing fingers and toes,hypertrophic skin changes.If the periostitis presents,the final diagnosis of PHO can be confirmed.

Dor articular na osteoartropatia hipertrófica primária: descrição de caso e revisão de tratamento / Arthralgia in primary hipertrophic osteoarthropathy: case report and review of the treatment

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.

Bronchiolitis Obliterans with Finger Clubbing after Measles Infection / 소아알레르기및호흡기학회지

A 5-year-old Korean boy was admitted with dyspnea, intermittent cyanosis and finger clubbing. He was diagnosed to be suffering measles pneumonia 3 years ago. Plain radiograph showed collapse of the right lung, mediastinal shifting and infiltration on both lower lung fields. High resolution computerized tomography revealed a central bronchiectasis with mosaic hyperinflation. All of the clinical information indicated that the severity of illness score was 4 of bronchiolitis obliterans (BO). The bronchoalveolar lavage cellular profile showed predominant neutrophilia. BO with finger clubbing has been rarely reported previously in childhood. We report a case of BO with finger clubbing in children with regard to clinical presentation of measles complicated pneumonia.

Further observations on generalized schistosomiasis japonica

A case of generalized schistosomiasis in a 14-year old girl with emphasis on jaundice and digital clubbing is presented, with the anatomic findings at autopsy. The pathogenesis of such clinical manifestations is briefly discussed. A brief survey of local literature on schistosomiasis japonica is made.(Summary)