Sarcoidosis: a general overview.

Sarcoidosis is a systemic inflammatory disease of unknown origin, which consists of the formation of multiple sterile noncaseating granulomas. Inhaled antigens are believed to initiate disease in prone individuals, considering that almost all patients present pulmonary or mediastinal lymph node disease. Extrapulmonary manifestations are common and diverse: practically any organ system can be affected, and treatment can range from simple watchful waiting to intense immunosuppression. In this article, we review current concepts about sarcoidosis in an overview, focusing on recognition and treatment of its major clinical phenotypes.

Neurosarcoidosis as a rapidly progressive dementia associated with normal pressure hydrocephalus.

Neurosarcoidosis (NS) is a rare subtype of sarcoidosis with a poor prognosis and diverse clinical presentations that often poses a diagnostic and therapeutic challenge. We describe the case of a 53-year-old male with an initial diagnosis of lingual sarcoidosis, who subsequently developed ataxia and rapidly progressive cognitive impairment. A lumbar puncture revealed hypoglycorrhachia, hyperproteinorrachia, lymphocytic pleocytosis, and elevated IL-6 levels (600 pg/ml). Cerebrospinal fluid flow cytometry showed an elevated CD4 lymphocyte concentration and a CD4+/CD8+ ratio of 3.91, indicative of NS. Brain MRI showed hyperintense periventricular and subcortical lesions on FLAIR/T2 resembling progressive multifocal leukoencephalopathy (PML), although negative PCR for JC virus ruled out the differential diagnosis. Following a favorable evolutionary course with corticosteroid pulses, the patient relapsed with normotensive hydrocephalus, treated with immunosuppressants and ventriculoperitoneal shunting with a good response to date. This case underscores the importance of maintaining a high index of suspicion for NS in individuals with sarcoidosis and neurologic symptoms. In these cases, cerebrospinal fluid biomarkers such as IL-6 and CD4+/CD8+ ratio are essential to guide the diagnosis. Furthermore, it highlights that hydrocephalus is a rare complication and requires a multidisciplinary approach, including medical and neurosurgical treatment.

La neurosarcoidosis es un subtipo raro de sarcoidosis con mal pronóstico y diversas presentaciones clínicas que a menudo plantea un reto diagnóstico y terapéutico. Describimos el caso de un varón de 53 años con diagnóstico inicial de sarcoidosis lingual, que posteriormente desarrolló ataxia y deterioro cognitivo de rápida evolución. Una punción lumbar reveló hipoglucorraquia, hiperproteinorraquia, pleocitosis linfocítica y niveles elevados de IL-6 (600 pg/ml). La citometría de flujo del líquido cefalorraquídeo mostró una concentración elevada de linfocitos CD4 y un cociente CD4+/CD8+ de 3.91, indicativo de neurosarcoidosis. La RM cerebral evidenció lesiones hiperintensas periventriculares y subcorticales en FLAIR/T2 que se asemejaban a una leucoencefalopatía multifocal progresiva (LMP), aunque la PCR negativa para el virus JC descartó el diagnóstico diferencial. Tras un curso evolutivo favorable con pulsos de corticoides, el paciente recayó con hidrocefalia normotensiva, tratada con inmunosupresores y derivación ventriculoperitoneal con buena respuesta hasta la fecha. Este caso subraya la importancia de mantener un alto índice de sospecha de neurosarcoidosis en individuos con sarcoidosis y síntomas neurológicos. En estos casos, los biomarcadores del líquido cefalorraquídeo tales como la IL-6 y el cociente CD4+/CD8+ son esenciales para orientar el diagnóstico. Además, destaca que la hidrocefalia es una complicación poco frecuente y requiere un abordaje multidisciplinario, que incluya tratamiento médico y neuroquirúrgico.

Paracoccidioidomycosis manifested by sarcoid-like cutaneous lesions with severe systemic disease: a rare and challenging diagnosis.

Cutaneous involvement in paracoccidioidomycosis (PCM) can exhibit a highly polymorphic spectrum. The infiltrative pattern corresponds to up to 26.6% of observed skin lesions, including sarcoid-like plaques, a rare presentation of cutaneous lesions in PCM. This clinical expression is almost exclusively cutaneous, and its histology reveals a tuberculoid granuloma with a scarcity of fungi, leading to misdiagnosis as other granulomatous diseases. Here, we report a rare form of chronic multifocal paracoccidioidomycosis manifesting as sarcoid-like skin lesions misdiagnosed as granulomatous rosacea in a patient with severe systemic disease.

Acute sarcoidosis Löfgren Syndrome treated by Chinese medicinal formula based on Syndrome Differentiation: a case - based review / Tratamiento de síndrome de Löfgren de sarcoidosis con fórmula medicinal china basada en diferenciación de síndrome: una revisión basada en casos

Löfgren syndrome (LS) is a unique acute manifestation of sarcoidosis and characterized by erythema nodosum, bilateral hilar lymphadenectasis, and/or bilateral ankle arthritis or periarthritis. A 37 - year - old female patient with LS presented with fever accompanied by multiple joint swelling and pain, nodular skin erythema, and bilateral hilar lymphadenectasis. The patient had received treatment involving non - steroidal anti - inflammatory drugs and glucocorticoids in other hospitals, but the effects were poor, and the conditions reemerged. The LS duration has lasted for more than 3 months. Following traditional Chinese medicine (TCM) treatment, syndrome differentiation as well as giving patients oral Chinese medicine decoction, the symptoms of the patient were rapidly relieved within one week and did not recur during a six - month follow - up period. This case is the first clinical report of acute sarcoidosis LS treated using T CM and reflects the significant advantages of this form of therapy in emergency treatment

El síndrome de Löfgren (LS) es una manifest ación única y aguda de sarcoidosis, caracterizada por eritrema nodoso, linfadenectasis hilar bilateral, y/o a r tritis de tobillo bilateral o periartritis. Una paciente de 37 años de sexo femenino con LS se presentó con fiebre, acompañada de inflamación y do lor múltiple de articulaciones, eritrema nodular cutáneo, y linfadenectasis hilar bilateral. La paciente recibió un tratamiento que consistió en antiinflamatorios no esteroidales y glucocorticoides en otros hospitales, pero los efectos fueron leves y las c ondiciones reemergieron. El LS ha durado más de tres meses. Siguiendo el tratamiento de medicina tradicional china (MTC), la diferenciación de síndrome, así como darles a los pacientes una decocción de medicina china por vía oral, los síntomas de la pacien te rápidamente fueron aliviados en el curso de una semana y no recidivaron durante los seis meses de un seguimiento. El caso es el primer reporte clínico de tratamiento de sarcoidosis aguda asociada a LS usando TCM y refleja las significativas ventajas de esta forma de terapia en el tratamiento de emergencia.

Sarcoid optic neuropathy.

A 45-year-old woman presented with sudden complete vision loss in her left eye and retroorbital pain worsened by eye movements. A previous milder episode of vision loss had occurred in the same eye 1 year before, with complete recovery after high-dose intravenous methylprednisolone. She had no light perception in the left eye with a swollen optic disc, but with a normal right optic disc. There were no systemic manifestations or infections. MR scan of the brain showed extensive enlargement and enhancement of the left optic nerve and optic chiasm. After excluding infections and autoimmune markers, a left optic nerve biopsy confirmed non-caseating granulomas, leading to a diagnosis of neurosarcoidosis.

[Neurosarcoidosis: Onset with involvement of multiple neurological sites]. / Neurosarcoidosis: inicio con compromiso de múltiples sitios neurológicos.

We present the case of a healthy young woman who consulted for left peripheral facial palsy associated with fever, dry cough, dyspnea, and asthenia of two weeks' evolution. Physical examination revealed hypoesthesia in left T6 to T12 dermatomes and bilateral galactorrhea. In the laboratory, she presented negative viral serology, elevated erythrocyte sedimentation rate, antinuclear antibody titers, prolactin and thyroid-stimulating hormone, with positive antiperoxidase antibodies. Computed tomography showed multiple bilateral cervical, mediastinal, and hilar adenopathies, without involvement of lung parenchyma. Cerebrospinal fluid culture was negative for common germs, mycobacteria, and Xpert MTB/RIF, and cytology did not show atypia. Contrast-enhanced magnetic resonance was performed on the brain without pathological findings and on the spine with alteration of the centromedullary signal from T6 to T9 of almost the entire thickness of the cord, with posterior enhancement with gadolinium. During hospitalization, she recovered sensitivity in the left trunk and did not repeat febrile or cough episodes. She was referred to another center for mediastinoscopy with lymph node biopsy revealing the presence of numerous non-caseating granulomas compatible with sarcoidosis. It was classified as probable neurosarcoidosis and started treatment with corticosteroids with improvement of the remaining neurological symptoms. A magnetic resonance was performed three months later where the signal alteration was limited from T7 to T8. Our objective is to highlight the florid neurological presentation that made it necessary to rule out other more frequent entities and the favorable evolution even before starting a first-line scheme of treatment.

Presentamos el caso de una mujer joven sana, que consultó por parálisis facial periférica izquierda asociada a fiebre, tos seca, disnea y astenia de dos semanas de evolución. Al examen físico se evidenció hipoestesia en dermatomas D6 a D12 izquierdos y galactorrea bilateral. En el laboratorio presentaba serologías virales negativas, eritrosedimentación, títulos de anticuerpos antinucleares, prolactina y hormona tiroestimulante elevados, con anticuerpos antiperoxidasa positivos. La tomografía computarizada mostró múltiples adenopatías cervicales, mediastinales e hiliares bilaterales, sin compromiso del parénquima pulmonar. El cultivo de líquido cefalorraquídeo fue negativo para gérmenes comunes, micobacterias (Xpert MTB/RIF), y la citología no mostró atipia. Se realizó una resonancia magnética con contraste endovenoso de cerebro sin hallazgos patológicos y de columna con alteración de la señal centromedular de D6 a D9 de casi la totalidad del espesor del cordón, con refuerzo con contraste endovenoso. Durante la internación recuperó la sensibilidad en tronco izquierdo y no repitió episodios febriles o tusígenos. Se realizó mediastinoscopía con biopsia ganglionar con anatomía patológica con presencia de numerosos granulomas no caseificantes compatibles con sarcoidosis. Se clasificó como neurosarcoidosis probable e inició tratamiento con corticoides con mejoría de los síntomas neurológicos restantes, realizándose una resonancia magnética a los tres meses, donde la alteración de la señal se limitaba desde D7 a D8. Nuestro objetivo es destacar la presentación neurológica en múltiples sitios que obligó a descartar otras entidades más frecuentes, así como la evolución favorable incluso previo al inicio de un esquema de tratamiento de primera línea.

[Recurrent chronic Vogt-Koyanagi-Harada syndrome or sarcoidosis? A Gloomy diagnosis]. / ¿Síndrome de Vogt-Koyanagi-Harada crónico o sarcoidosis? Un diagnóstico sombrío.

Background: Vogt-Koyanagi-Harada syndrome (VKH) is a systemic disease that affects organs profuse in melanocytes, presenting with a chronic and diffuse bilateral granulomatous panuveitis, as well as neurological, auditory, and cutaneous manifestations. In this article, a systematic approach is presented for the diagnostic management of VKH syndrome, considering relevant diagnostic possibilities to rule out other entities that manifest similar symptoms. Clinical case: 71-year-old man with a long-standing history of vitiligo, who experienced visual loss in his right eye 6 months before his admission, along with bilateral hearing loss predominantly in the right ear. During his hospitalization, he presented with chronic headache, fever, and significant involuntary weight loss. Ophthalmological examination revealed that his right eye only perceived light and had hyperemic bulbar conjunctiva, while the left eye had a visual acuity of 20/200. The right fundus had scattered pigmentation, while the left had an edematous optic disc and right optic atrophy. Conclusions: The diagnosis of VKH syndrome is established by the presence of the 5 diagnostic criteria for complete disease, including retinal depigmentation, neurological alterations, and dermatological manifestations. Since patients can present with a wide variety of symptoms, initial differential diagnosis should be considered, which represents a diagnostic challenge.

Introducción: el síndrome de Vogt-Koyanagi-Harada (VKH) es una enfermedad sistémica que afecta a órganos ricos en melanocitos y se manifiesta con una panuveítis granulomatosa bilateral, crónica y difusa, así como con manifestaciones neurológicas, auditivas y cutáneas. En este artículo se presenta un enfoque sistemático para el abordaje diagnóstico del síndrome de VKH y se consideran las posibilidades diagnósticas relevantes para descartar otras entidades que se presentan con síntomas similares. Caso clínico: hombre de 71 años con antecedentes de vitiligo de larga data, quien experimentó una pérdida visual en su ojo derecho seis meses antes de su ingreso, junto con hipoacusia bilateral, predominantemente en el oído derecho. Durante su hospitalización, presentó cefalea crónica, fiebre y una significativa pérdida involuntaria de peso. En la exploración oftalmológica, el ojo derecho solo percibía luz y presentaba conjuntiva bulbar hiperémica, mientras que el ojo izquierdo tenía una agudeza visual de 20/200. El fondo del ojo derecho presentaba pigmentación dispersa, mientras que el izquierdo tenía una papila edematosa y atrofia óptica derecha. Conclusiones: el diagnóstico del síndrome de VKH se establece mediante la presencia de los 5 criterios diagnósticos para la enfermedad completa, incluida la hipopigmentación retiniana, las alteraciones neurológicas y las manifestaciones dermatológicas. Dado que los pacientes pueden presentar una amplia variedad de síntomas, el diagnóstico diferencial debe considerarse inicialmente, lo que representa un desafío diagnóstico.

Peritoneal sarcoidosis that simulates peritoneal carcinomatosis: a case report.

Sarcoidosis is a multisystem inflammatory disorder of unknown cause characterized by the formation of pleomorphic, non-caseating granulomas with predominantly pulmonary involvement. Although abdominal sarcoidosis represents 30% of extrapulmonary manifestations, peritoneal involvement is extremely rare. We will describe a rare case of peritoneal sarcoidosis simulating carcinomatosis in a young patient with abdominal pain who underwent laparoscopic examination.

La sarcoidosis es un trastorno inflamatorio multisistémico de causa desconocida que se caracteriza por la formación de granulomas pleomórficos, no caseificantes, con afectación predominantemente pulmonar. Aunque la sarcoidosis abdominal representa el 30% de las manifestaciones extrapulmonares, la afectación peritoneal es extremadamente rara. Describiremos un caso poco frecuente de sarcoidosis peritoneal simulando carcinomatosis en una paciente joven con dolor abdominal sometida a exploración laparoscópica.

Sarcoidosis: experience in a Mexican ophthalmological clinic.

BACKGROUND: Sarcoidosis is an inflammatory disorder in which patients frequently develop ocular manifestations that precede systemic involvement, sometimes it even presents as an ocular isolated form of the disease. The purpose of this study is to report the ocular and systemic manifestations of sarcoidosis in a series of Mexican patients, as there is a low incidence of the disease in this population. METHODS: A retrospective case series of patients with positive classification criteria for sarcoidosis who attended Asociacion Para Evitar la Ceguera en Mexico, IAP between 2011 and 2022. Descriptive statistics were used to report the clinical, laboratory, and imaging findings and treatment. Numerical results were presented using median values and first and third quartiles for distribution. RESULTS: Fourteen patients were included in this study, 10 of them had definite ocular sarcoidosis (biopsy-proven), 4 had presumed ocular sarcoidosis. The median age of onset was 52 (34; 67), with a predominance of female patients (71.4%). Ten patients (71.4%) debuted with ocular manifestations. The most common forms of ocular involvement were bilateral anterior uveitis (50%) and panuveitis (28.6%). Median follow-up was 24 (13-49) months. CONCLUSIONS: Sarcoidosis is a rare, underdiagnosed condition in Mexico and ocular involvement can be an early manifestation of the disease. Ophthalmologists should be alert to the signs of ocular sarcoidosis and collaborate with a multidisciplinary team to screen for systemic involvement if suspicion is high.

Dermoscopy of cutaneous sarcoidosis: a cross-sectional study.

BACKGROUND: Although traditionally used for the diagnosis of skin tumors, in the past few years dermoscopy as a clinical diagnostic aid for inflammatory and infectious skin manifestations has also received more and more attention. The clinical variability of cutaneous sarcoidosis (CS) often makes its correct diagnosis challenging. Dermoscopy can be used as an auxiliary examination method. OBJECTIVE: Our aim was to evaluate the role of dermoscopy in the diagnosis and differential diagnosis of CS. METHODS: This was a retrospective analysis of 39 CS clinical and dermoscopic images collected in the Department of Dermatology, Huashan Hospital Affiliated with Fudan University from August 2013 to February 2021. RESULTS: Retrospective dermoscopic evaluation revealed small grouped, translucent orange globular structures in all 39 cases. Variable diameter linear vessels were found in 38 cases. A central scar-like area was seen in 26 cases. Bright white streaks were seen in 30 cases. The follicular plugs were seen in 15 cases. STUDY LIMITATIONS: First, the number of cutaneous sarcoidosis cases the authors collected is small. Second, due to the lack of a control group, the sensitivity and specificity of the proposed criteria were not calculated. Finally, since our study mainly includes suspicious lesions that were biopsied for diagnostic purposes, there may be a selection bias. CONCLUSION: Lesions showing on dermoscopy grouped translucent orange ovoid structures associated with linear vessels should raise the suspicion of CS. Central scar-like areas and bright white streaks are also helpful in the diagnosis of CS.

Unusual Corneal Sarcoidosis Manifestations.

AIM: To document atypical presenting forms of ocular sarcoidosis at the corneal level. METHODS: Case report. RESULTS: A 63-year-old woman presented multiple uncommon unilateral primary corneal conditions as manifestation of ocular sarcoidosis, including peripheral ulcerative keratitis, sterile corneal infiltrate (corneal granuloma), and sterile infiltrates related to a corneal foreign body, requiring medical and surgical management to control the inflammatory symptoms and to preserve the integrity of the eyeball. An excisional biopsy of a nodule in the temporal conjunctiva was performed under topical anesthesia. Histological analysis revealed a non-caseating granuloma, confirming the diagnosis of ocular sarcoidosis. CONCLUSION: When thinking of ocular involvement in patients with ocular sarcoidosis, it is essential to remember that manifestations such as peripheral ulcerative keratitis, sterile corneal infiltrate, and sterile foreign body-related infiltrates may be presentations of this disease.

Systemic sarcoidosis presenting as acute rapidly progressive proptosis.

Sarcoidosis is a generalized systemic chronic inflammation that rarely involves the orbit. As a chronic inflammation, sarcoidosis typically manifests with an insidious onset and slowly progressive course. We report a case of acute-onset proptosis resulting from a rapidly growing diffuse orbital mass that simulated malignant growth, which was biopsy proven to be the first manifestation of systemic sarcoidosis. The patient demonstrated complete resolution of proptosis and systemic involvement with long-term corticosteroid treatment.