Heerfordt's Syndrome Research Articles

Heerfordtův syndrom – vzácná manifestace sarkoidózy z pohledu ORL lékaře

Summary Sarcoidosis is a systemic granulomatous disease that mainly affects the pulmonary and lymphatic systems. In its rare, acute forms, it can manifest as Lofgren’s syndrome (combination of erythema nodosum, bilateral pulmonary hilar lymphadenopathy, joint pain, fever and general symptoms) and even more rarely as Heerfordt’s syndrome (combination of fever, anterior uveitis, bilateral edema of the parotid area and uni or bilateral facial nerve paresis). Although this dia­gnosis is rare, it belongs to the differential dia­gnosis of sudden paresis of the facial nerve and swelling of the parotic area. In our case report, we describe Heerfordt’s syndrome in a 50-year-old woman. The pathophysiology, symptomatology, dia­gnosis, and treatment of this rare syndrome are discussed. Key words sarcoidosis – uveoparotid fever – facial nerve paresis

Bilateral Facial Palsy as the Onset of Neurosarcoidosis: A Case Report and a Revision of Literature

Unilateral facial nerve palsy (FNP) is one of the most common cranial mononeuropathies. Among rare etiologies, neurosarcoidosis (NS) can cause bilateral involvement (both recurring and simultaneous) only in 15% to 25% of cases. The rarity of this systemic disease and its clinical heterogeneity, due to granulomatous inflammation that may affect many anatomic substrates, frequently make the diagnosis a real challenge for the clinician. Based on laboratory and instrumental tests, a careful diagnostic algorithm must be adopted to avoid misdiagnosis and delay in treatment. We present a 52-year-old woman with an acute onset of unilateral right FNP, rapidly developing contralateral involvement (simultaneous bilateral FNP). Lung findings pointed towards a systemic disease, and then lymph node biopsy confirmed NS. Corticosteroid therapy was started. After three years of follow-up, the patient is still in remission with a low prednisone dose. We discuss the differential diagnosis of bilateral FNP, focusing on clinical presentation, diagnosis, and treatment of NS. We have performed a literature revision, confirming bilateral FNP, outside Heerfordt syndrome, to be rare and sometimes represent the only neurological manifestation of NS onset.

New sarcoidosis guidelines: Are we near to perfection?

New sarcoidosis guidelines: Are we near to perfection?

Anti-TNF Induced Sarcoidosis-Like Disease in Rheumatoid Arthritis Patients: Review Cases from the RA UCLouvain Brussels Cohort.

IntroductionDrug-induced sarcoidosis-like disease is a rare side effect of anti-tumor necrosis factor (anti-TNF) agents in rheumatoid arthritis (RA) patients. The most commonly involved organs in such condition are the lungs, skin, and lymph nodes. The aim of this study is to report the number of cases and the clinical manifestations of sarcoidosis induced by anti-TNF in our RA UCLouvain Brussels cohort.MethodsAll case records of RA patients ever treated with a TNF inhibitor and presenting anti-TNF induced sarcoidosis in our rheumatology centers from 2000 to 2021 were retrospectively reviewed.ResultsOur RA UCLouvain Brussels cohort includes 2492 patients. Among them, 697 patients have been or are exposed to a TNF inhibitor. Only four patients with sarcoidosis induced by anti-TNF were identified and reviewed. Patient 1 was classified as incomplete Heerfordt syndrome. Patient 2 was a case of sarcoid-like granulomatosis manifesting as life-threatening hypercalcemia, acute kidney injury and atypical parenchymal pneumopathy. Patients 3 and 4 developed pulmonary sarcoidosis with hilar adenopathies. The TNF inhibitor was etanercept for the first three patients and infliximab for the last one. The time occurrence of sarcoidosis was highly variable after anti-TNF exposure. All patients recovered after glucocorticoid treatment and the discontinuation of the anti-TNF agent.ConclusionsThis case highlights this rare paradoxical side effect and the variability of the clinical presentation. Further studies should analyze the immunopathology of such conditions.

Multisystemic sarcoidosis revealed by a Heerfordt syndrome

Heerfordt syndrome is a rare clinical form of sarcoidosis with a favorable evolutionary profile in the majority of cases. In its classical form, it associates uveitis, parotidomegaly, facial paralysis and fever. We report a case of multisystemic sarcoidosis type II revealed by a Heerfordt syndrome in a 51-year-old female patient.

BILATERAL INGUINAL LYMPHADENOPATHY AS THE EXTRAPULMONARY PRESENTATION OF PULMONARY SARCOIDOSIS: A RARE CLINICAL PRESENTATION

TOPIC: Diffuse Lung Disease TYPE: Medical Student/Resident Case Reports INTRODUCTION: Sarcoidosis is a multi-systemic granulomatous disorder of unknown etiology and is characterized pathologically by the presence of non-caseating granulomas in involved organs; particularly in the lungs, hilar lymph nodes, skin, and eyes. Sarcoidosis affects individuals of any age, sex and race but it commonly affects young to middle-aged, Black American adults. The diagnosis of sarcoidosis is made on the basis of clinical features with compatible radiological findings and is further supported by the histological evidence non-caseating granulomas in affected organs, and the exclusion of other disorders that may present similarly. Biopsy is usually recommended for all patients that are suspected of having sarcoidosis with the exception of Lofgren's syndrome, Heerfordt syndrome and Lupus Pernio. Extra-pulmonary lymph nodes are present in 15% of patient's at the time of diagnosis. We present a young female who presents with bilateral inguinal lymphadenopathy as the first sign of sarcoidosis CASE PRESENTATION: A 32 year old female presented with complaints of bilateral, non-tender, inguinal swellings that progressively enlarged over a two week period. This was accompanied by a five pounds weight loss which she attributed to decreased appetite due to personal stressors. She had no associated fever, chills, vaginal discharge, dyspnea, cough, arthralgia or rashes. Physical examination revealed multiple, palpable, non-tender, mobile inguinal lymph nodes of varying sizes bilaterally with no associated overlying skin changes. She had no hepatomegaly, splenomegaly or uveitis. The erythrocyte sedimentation rate was 34 mm/hr (<25 mm/hr), 25 hydroxy-vitamin D was 13.5 ng/mL (30.0-80.0 ng/mL) and serum angiotensin converting enzyme level was 259 U/L (9.0-47.0 U/L). Abdomen and pelvic computed tomography showed bilateral inguinal lymphadenopathy measuring up to 1.6 cm on short axis. Chest computed tomography showed bulky mediastinal and bilateral hilar adenopathy with bilateral axillary lymphadenopathy. There were multifocal clusters of peri-lymphatic lung nodules in bilateral lungs. Excisional biopsy of the right inguinal lymph node revealed non-caseating granulomatous lymphadenitis. Acid fast bacilli (AFB) stain was negative for acid fast organisms. DISCUSSION: While extra-pulmonary manifestations of sarcoidosis are common, inguinal lymphadenopathy remains a rare presenting complaint with few documented cases. This finding suggests that biopsy of peripheral lymph nodes in an effort to establish the presence of granulomas, with the appropriate radiographic findings and clinical presentation, remains a viable and minimally invasive method of diagnosing sarcoidosis. CONCLUSIONS: The differential diagnosis for inguinal lymphadenopathy should include systemic conditions such as sarcoidosis. REFERENCE #1: Baughman, RP, Teirstein, AS, Judson, MA, et al. Clinical characteristics of patients in a case control study of sarcoidosis. Am J Respir Crit Care Med 2001; 164: 1885–1889. REFERENCE #2: Monnet P, Thevenon J. Sarcoidosis with clinically isolated mediastinal adenopathy; diagnosis confirmed by biopsy of inguinal & right pre-scalenic lymph nodes. Lyon Med 1959;91:191-5. REFERENCE #3: Iannuzzi MC, Rybicki BA, Teirstein AS (2007) Sarcoidosis. N Engl J Med 357(21):2153–2165. DISCLOSURES: No relevant relationships by Sai Achi, source=Web Response No relevant relationships by Raji Ayinla, source=Web Response No relevant relationships by Janet Joseph, source=Web Response No relevant relationships by Richard Sheppard, source=Web Response

Ocular sarcoidosis: clinical experience and recent pathogenetic and therapeutic advancements

PurposeTo describe the ocular manifestations in a cohort of patients with systemic sarcoidosis (SS). Recent advances in the pathophysiology, diagnosis, and therapy of SS are also discussed.MethodsData from 115 Italian patients diagnosed between 2005 and 2016 were retrospectively reviewed. All but the first 17 patients underwent a comprehensive ophthalmologic examination. The diagnosis was based on clinical features, the demonstration of non-caseating granulomas in biopsies from involved organs, and multiple imaging techniques. Data on broncho-alveolar lavage fluid analysis, calcemia, calciuria, serum angiotensin-converting enzyme levels and soluble interleukin-2 receptor levels were retrieved when available.ResultsOcular involvement, detected in 33 patients (28.7%), was bilateral in 29 (87.9%) and the presenting feature in 13 (39.4%). Anterior uveitis was diagnosed in 12 patients (36.4%), Löfgren syndrome and uveoparotid fever in one patient each (3%), intermediate uveitis in 3 patients (9.1%), posterior uveitis in 7 (21.2%), and panuveitis in 9 (27.3%). First-line therapy consisted of corticosteroids, administered as eyedrops (10 patients), sub-Tenon’s injections (1 patient), intravitreal implants (9 patients), or systemically (23 patients). Second-line therapy consisted of steroid-sparing immunosuppressants, including methotrexate (10 patients) and azathioprine (10 patients). Based on pathogenetic indications that tumor necrosis factor (TNF)-α is a central mediator of granuloma formation, adalimumab, targeting TNF-α, was employed in 6 patients as a third-line agent for severe/refractory chronic sarcoidosis.ConclusionUveitis of protean type, onset, duration, and course remains the most frequent ocular manifestation of SS. Diagnostic and therapeutic advancements have remarkably improved the overall visual prognosis. An ophthalmologist should be a constant component in the multidisciplinary approach to the treatment of this often challenging but intriguing disease.

Sarcoidosis presenting with facial swelling (Heerfordt syndrome).

Key Clinical MessageSarcoidosis is one of the “great masqueraders” of medicine and can present with atypical facial swelling. Imaging and biopsy confirm the diagnosis.

Imaging for Sarcoidosis.

AbstractSarcoidosis is a systemic disease characterized by widespread development of noncaseating epithelioid granulomas. Based on a joint statement by the American Thoracic Society (ATS), European Thoracic Society (ERS), and the World Association for Sarcoidosis and other Granulomatous Disorders (WASOG), the diagnosis of sarcoidosis requires a compatible clinical picture, histologic demonstration of noncaseating granulomas, and exclusion of other diseases that may give a similar histologic or clinical picture. Although to a casual reader these recommendations suggest that making a diagnosis of sarcoidosis is straightforward, a consensus on the diagnostic role of imaging in sarcoidosis remains unclear. First, despite the primacy of chest computed tomography (CT) for evaluating diffuse lung disease, a guideline-based diagnosis of sarcoidosis without biopsy requires specific appearances on chest radiography (Löfgren's syndrome) or 67Ga Scintigraphy (Heerfordt's syndrome). Second, although the literature on CT as a prognostic tool in interstitial lung disease is relatively extensive, very little of this focuses specifically on sarcoidosis. Third, staging of sarcoidosis relies on radiographic appearances at presentation using a system devised by Scadding more than 40 years ago. This is in stark contrast to idiopathic pulmonary fibrosis where significant advances have been made in imaging-based staging and computer-assisted quantification of disease in the past 10 years. In this article, in addition to describing the myriad of imaging patterns seen in sarcoidosis, the impact imaging has on diagnosis, staging, and prediction of outcome will also be discussed. Cardiac-related sarcoidosis and neurosarcoidosis will be discussed in separate articles.

Heerfordt's Syndrome: A New Atypical Clinical Presentation

Heerfordt's Syndrome: A New Atypical Clinical Presentation

A Report of Two Cases of Solid Facial Edema in Acne.

IntroductionSolid facial edema (SFE) is a rare complication of acne vulgaris. To examine the clinical features of acne patients with solid facial edema, and to give an overview on the outcome of previous topical and systemic treatments in the cases so far published.MethodsWe report two cases from Switzerland, both young men with initially papulopustular acne resistant to topical retinoids.ResultsBoth cases responded to oral isotretinoin, in one case combined with oral steroids. Our cases show a strikingly similar clinical appearance to the cases described by Connelly and Winkelmann in 1985 (Connelly MG, Winkelmann RK. Solid facial edema as a complication of acne vulgaris. Arch Dermatol. 1985;121(1):87), as well as to cases of Morbihan’s disease that occurs as a rare complication of rosacea.ConclusionEven 30 years after, the cause of the edema remains unknown. In two of the original four cases, a potential triggering factor was identified such as facial trauma or insect bites; however, our two patients did not report such occurrencies. The rare cases of solid facial edema in both acne and rosacea might hold the key to understanding the specific inflammatory pattern that creates both persisting inflammation and disturbed fluid homeostasis which can occur as a slightly different presentation in dermatomyositis, angioedema, Heerfordt’s syndrome and other conditions.

Neurosarcoidosis: a clinical approach to diagnosis and management

Sarcoidosis is a rare but important cause of neurological morbidity, and neurological symptoms often herald the diagnosis. Our understanding of neurosarcoidosis has evolved from early descriptions of a uveoparotid fever to include presentations involving every part of the neural axis. The diagnosis should be suspected in patients with sarcoidosis who develop new neurological symptoms, those presenting with syndromes highly suggestive of neurosarcoidosis, or neuro-inflammatory disease where more common causes have been excluded. Investigation should look for evidence of neuro-inflammation, best achieved by contrast-enhanced brain magnetic resonance imaging and cerebrospinal fluid analysis. Evidence of sarcoidosis outside the nervous system should be sought in search of tissue for biopsy. Skin lesions should be identified and biopsies taken. Chest radiography including high-resolution computed tomography is often informative. In difficult cases, fluorodeoxyglucose positron emission tomography and gallium-67 imaging may identify subclinical disease and a target for biopsy. Symptomatic patients should be treated with corticosteroids, and if clinically indicated other immunosuppressants such as hydroxychloroquine, azathioprine, cyclophosphamide or methotrexate should be added. Anti-tumour necrosis factor alpha therapies may be considered in refractory disease but caution should be exercised as there is evidence to suggest they may unmask disease.

Clinical and radiological features of extra-pulmonary sarcoidosis: a pictorial essay.

The aim of this manuscript is to describe radiological findings of extra-pulmonary sarcoidosis. Sarcoidosis is an immune-mediated systemic disease of unknown origin, characterized by non-caseating epitheliod granulomas. Ninety percent of patients show granulomas located in the lungs or in the related lymph nodes. However, lesions can affect any organ. Typical imaging features of liver and spleen sarcoidosis include visceromegaly, with multiple nodules hypodense on CT images and hypointense on T2-weighted MRI acquisitions. Main clinical and radiological manifestations of renal sarcoidosis are nephrolithiasis, nephrocalcinosis, and acute interstitial nephritis. Brain sarcoidosis shows multiple or solitary parenchymal nodules on MRI that enhance with a ring-like appearance after gadolinium. In spinal cord localization, MRI demonstrates enlargement and hyperintensity of spinal cord, with hypointense lesions on T2-weighted images. Skeletal involvement is mostly located in small bone, showing many lytic lesions; less frequently, bone lesions have a sclerotic appearance. Ocular involvement includes uveitis, conjunctivitis, optical nerve disease, chorioretinis. Erythema nodosum and lupus pernio represent the most common cutaneous manifestations encountered. Sarcoidosis in various organs can be very insidious for radiologists, showing different imaging features, often non-specific. Awareness of these imaging features helps radiologists to obtain the correct diagnosis.Teaching Points• Systemic sarcoidosis can exhibit abdominal, neural, skeletal, ocular, and cutaneous manifestations.• T2 signal intensity of hepatosplenic nodules may reflect the disease activity.• Heerfordt’s syndrome includes facial nerve palsy, fever, parotid swelling, and uveitis.• In the vertebrae, osteolytic and/or diffuse sclerotic lesions can be found.• Erythema nodosum and lupus pernio represent the most common cutaneous manifestations.

A case of Heerfordt syndrome accompanied with various nerve disturbances

A case of Heerfordt syndrome accompanied with various nerve disturbances

Diagnosis of Sarcoidosis.

The diagnosis of sarcoidosis, a systemic granulomatous disease, is based on a compatible clinical-radiological picture and the histological evidence of noncaseating granulomas. Other diseases mimicking sarcoidosis, mostly infections and other granulomatoses, have to be excluded. There is no single test for sarcoidosis, and the presence of granulomas alone does not establish the diagnosis. Symptoms of sarcoidosis are not specific and can be markedly different according to organ involvement and disease course. Respiratory symptoms and fatigue are the most common symptoms at any stage of disease. Histological confirmation is not needed for Löfgren's or Heerfordt's syndrome and asymptomatic bihilar lymphadenopathy. The radiological staging system is still based on chest radiography, and computed tomography is not mandatory for routine follow-up. (18)F-fluorodeoxyglucose positron emission tomography may be of value in special cases. For assessment of lung involvement and follow-up, pulmonary function tests are necessary with vital capacity being the most important single parameter and diffusion capacity the most sensitive. Bronchoscopy with biopsy is the most common procedure for detection of granulomas, when there is no easier biopsy site like skin or peripheral lymph nodes. Endobronchial ultrasonography-guided transbronchial needle aspiration has replaced mediastinoscopy for evaluation of mediastinal and hilar lymph nodes with a high diagnostic yield. Despite numerous studies, no single biomarker can be reliably used for correct diagnosis or exclusion of sarcoidosis. Genetic testing, despite promising advances, has still not been included in routine care for sarcoidosis patients. The long-term prognosis of sarcoidosis depends on the different organ manifestations: Cardiac or central nervous involvement, together with respiratory complications, is critical. A multidisciplinary approach is necessary for comprehensive care of the sarcoidosis patient.

Melkersson-Rosenthal syndrome.

Melkersson-Rosenthal syndrome.

Adölesan dönemde Heerfordt sendromu

Heerfordt sendromu, sarkoidozda nadir gorulen norolojik tutulum ile seyreden bir sendrom olup bilateral uveit, fasiyal paralizi, ates ve parotit bulgulari ile karakterizedir. On bes yasindaki erkek hasta ates, kusma, her iki yanak bolgesinde olusan sislik sikayeti ile klinigimize basvurdu. Parotit on tanisi ile takip edilen hastanin izleminde makulopapuler dokuntulerin olusmasi, fasiyal paralizi gelismesi ve oftalmotolojik muayenesinde bilateral anterior uveit saptanmasi uzerine Heerfordt sendromu dusunulerek Galyum-67 sintigrafisi yapildi. Yapilan sintigrafide her iki lakrimal bezde, parotis ve tukuruk bezlerinde artmis aktivite izlendi. Sarkoidoz tanisi guclenen hastaya steroid tedavisi baslandi. Yapilan ince igne aspirasyon biyopsisi sonucu ise negatif olarak geldi. Bu olgu, parotit ve fasiyal paralizinin ender gorulen nedenine dikkat cekmek icin sunulmustur.

The Heerfordt-Waldenström Syndrome as an Initial Presentation of Sarcoidosis

Sarcoidosis is a granulomatous disease of unclear etiology, which commonly presents with cough, dyspnea, chest pain, fever, weight loss, arthralgias, and erythema nodosum. Heerfordt-Waldenström syndrome, a rare presentation of sarcoidosis, is characterized by the presence of parotid gland enlargement, facial palsy, anterior uveitis, and fever. Here we present a case of a 59-year-old nonsmoking African American woman who presented with 3 days of progressively worsening left facial droop, difficulty swallowing, and blurred vision. Over the prior 4 months, she had had a productive cough, fevers, night sweats, and an unintentional 30-pound weight loss. Physical examination revealed a left facial droop involving the forehead, cheek, and chin with an inability to close the left eyelid. Her serum angiotensin-converting enzyme level was twice the upper limit of normal. Prominent hilar markings were identified on chest x-ray, but no focal opacity was seen. Fine-needle aspiration of a preauricular lymph node revealed noncaseating granulomas consistent with granulomatous lymphangitis. The patient was given a diagnosis of Heerfordt-Waldenström syndrome, or uveoparotid fever. Treatment with a high-dose steroid improved her parotid gland enlargement, facial palsy, and anterior uveitis.

Atypical variant of Heerfordt's syndrome: Ultrasound findings

Case report: A 42-year-old woman presented to our Ultrasound Unit with a history of fever (body temperature 37.9°C), arthralgia, xerophthalmia, left parotid enlargement and pain over the last two months. Conventional ultrasound showed that the left parotid gland increased in size with multiple hypo- and iso-echoic areas and high-velocity flow on Color Doppler sonography. Laboratory tests were negative for bacterial and viral infections, and an empirical antibiotic treatment had no efficacy. Chest x-ray and abdominal ultrasound were both negative.

Drei Fälle - eine Diagnose: okuläre Manifestationsformen der Sarkoidose

Sarcoidosis can manifest itself in a variety of affection patterns in the eye. Early diagnosis and treatment are of crucial importance. Therefore the following three cases present occular symptoms associated with sarcoidosis. Three case reports are described. We report three cases with panuveitis but different anamneses. A 14-year-old boy suffered initially from a medically refractory sinusitis, followed by panuveitis with a distinct pattern of chorioretinal involvement. Furthermore, there was a facial palsy, swelling of the parotid glands, fever, and a deterioration of his general condition. The histological examination of a turbinectomy revealed a granulomatous inflammation with non-caseating granulomas. The second patient, a 66-year-old female, presented with the suspected diagnosis of paraneoplastic syndrome and positive anamnesis for sigma carcinoma. One of her main symptoms was significant uveitis with a pronounced inflammation in the anterior chamber. The suspicious lesions in thoracic CT yielded to the diagnosis of sarcoidosis. The third patient, a 51-year-old male, seemed to be generally healthy. He described a loss of visual acuity, which was explained by vitritis and a pronounced macular oedema. As part of the search for underlying diseases the chest radiography showed abnormal structures. In all patients the diagnosis was sarcoidosis. Moreover, in the first case Heerfordt syndrome, a special form of sarcoidosis, was diagnosed. In all three patients a significant improvement of visual acuity occurred under systemic prednisolone therapy. These cases demonstrate the broad spectrum of manifestations of sarcoidosis in ophthalmology. Moreover, the early diagnosis and implementation of therapy were decisive for the prognosis.