Lupus Pernio Research Articles

Overlap syndromes in sarcoidosis: Unveiling the masquerader

As a multi system granulomatous disease, clinical presentations of sarcoidosis are highly variable. In the absence of a stereotypical clinical presentation such as asymptomatic bilateral hilar adenopathy, Lofgren's syndrome, or lupus pernio, a diagnosis of sarcoidosis typically requires 1) compatible clinical presentation, 2) histologic evidence of granulomatous inflammation, and 3) the exclusion of other causes. The clinical presentation of sarcoidosis is often nonspecific and a variety of other causes of granulomatous inflammation can make diagnosing sarcoidosis a challenge for clinicians. “Overlap syndromes” are often used to describe clinical presentations of sarcoidosis that share histologic and clinical features of other diseases, or when the diagnosis of sarcoidosis is made in association with the coexistence of another diagnosis with similar clinical or histologic findings. Because of the risk of diagnostic delay and diagnostic errors, it is vital for clinicians to be familiar with overlap syndromes in sarcoidosis. The coexistence of sarcoidosis with other diseases can also significantly impact disease management and outcomes. This article will review the most current published data on overlap syndromes in sarcoidosis to aid clinicians in diagnosing and managing these complex patients.

Vitiligo Associated With Sarcoidosis: Case Based Review

Sarcoidosis is characterized by non-caseating granulomatous inflammation that predominantly affects the lungs. Cutaneous involvement occurs in 20 to 35 percent of the patients and may emerge as the initial manifestation of the disease. Erythema nodosum and lupus pernio are the specific skin manifestations of cutaneous sarcoidosis. Many different skin lesions including hypopigmentation or hyperpigmentation that mimic other primary skin and systemic diseases may occur in sarcoidosis patients. Cutaneous involvement always poses a diagnostic dilemma in all patients with or without a previous sarcoidosis diagnosis. In this review, we present two sarcoidosis patients who subsequently developed vitiligo. The main aim is to discuss the underlying pathologic mechanisms of sarcoidosis associated with vitiligo and to define the potential relationship between these two autoimmune disorders. The second target is to specify a diagnostic pathway in sarcoidosis patients associated with skin involvement in the light of the current literature data.

DARIER-ROUSSY SUBCUTANEOUS SARCOIDOSIS: A CASE-BASED REVIEW

Sarcoidosis is a systemic granulomatous inflammatory condition characterized by varied clinical manifestations, with a higher prevalence observed in individuals aged 25 to 40 and women over 50. Typical presentations involve symmetric involvement of hilar and mediastinal lymph nodes, followed by lung involvement. While initial stages are often asymptomatic, the disease can impact various organs. Cutaneous involvement, observed in up to a quarter of patients, includes lupus pernio, papules, plaques, erythema nodosum, and occasionally subcutaneous nodules. Subcutaneous sarcoidosis, once considered rare, is now increasingly recognized. We present a case of Darier-Roussy sarcoidosis in a middle-aged man, demonstrating multiple painless subcutaneous nodules confirmed through biopsy. Our findings suggest that Darier-Roussy sarcoidosis typically manifests early in the disease course, indicating non-severe systemic involvement. Additionally, our patient responded well to hydroxychloroquine treatment, suggesting a positive outcome.

Demographics, Cutaneous Manifestations, and Comorbidities Associated with Progressive Cutaneous Sarcoidosis: A Retrospective Cohort Study.

Background: Sarcoidosis is a multisystem granulomatous disease with a wide variety of presentations and clinical courses. Cutaneous manifestations and comorbidities associated with sarcoid prognosis remain understudied. Methods: An EPIC query was run for patients age 18+ at the Johns Hopkins Hospital with a diagnosis of sarcoidosis of the skin according to the ICD-10-CM code D86.3. Data were obtained from a population-based sample of 240 patients from 2015 to 2020. Results: A total of 240 patients were included in the cohort study. The mean (SD) age was 43.76 (11.72) years, and 30% of participants were male; 76.25% of patients identified as black, 19.58% as white, and 4.17% as other. The average age of onset in remissive patients was significantly higher than progressive (47 ± 12 vs. 40 ± 10, p = 0.0005); 49% of black patients experienced progressive sarcoid compared to 32.6% of white patients (p = 0.028). Progressive disease was associated with the presence of lupus pernio (aOR = 3.29, 95% CI, 1.60-6.77) and at least one autoimmune comorbidity (aOR 6.831, 95% CI 1.819-11.843). Conclusions: When controlling for patient demographics, lupus pernio and the presence of at least one autoimmune condition were associated with progressive cutaneous sarcoidosis.

Lupus pernio vs. lupic perniosis: A case report

Abstract Introduction: Systemic lupus erythematosus (SLE) is an autoimmune disease that is difficult to diagnose due to the wide array of signs and symptoms it displays that may be associated to multiple clinical conditions, including perniosis (a rare inflammatory condition), lupus pernio (a manifestation of sarcoidosis), and lupus perniosis (a form of SLE), which can be easily mistaken. Case description: A 29-year-old Colombian mestizo woman with no family history of autoimmune, inflammatory or cutaneous diseases was diagnosed with SLE after ruling out several differential diagnoses. Although the patient presented with features of lupus pernioticus (lupus perniosis), it was established that she had lupus pernio, a type of sarcoidosis. The patient was given the indicated treatment, which led to an improvement in her quality of life. Conclusion: Based on the epidemiology, clinical history and histopathologic findings, it was possible to establish that the patient presented with lupus perniosis and not lupus pernio. In that regard, considering that these three conditions (perniosis, lupus pernio and lupic perniosis) can be easily confused, the present case highlights the importance of a thorough clinical evaluation and precise use of diagnostic terms, because these are three different conditions despite their similar names.

ODP106 Mystery of the Calcium: A Case of Exclusive Cutaneous Sarcoidosis presenting with Symptomatic Hypercalcemia

Abstract The skin is the second most involved organ after the lung in sarcoidosis. It could be an early manifestation that may progress to systemic disease later. Exclusive cutaneous disease is more frequently seen in females. Specific lesions include erythema nodosum, skin plaques, subcutaneous nodules, maculopapular rashes, lupus pernio, scar lesions, and psoriasiform lesions. Most with cutaneous sarcoidosis need no treatment unless there is associated cosmetic disfigurement. We present a unique case of cutaneous sarcoidosis presenting with symptomatic hypercalcemia without systemic disease. A 75-year-old African American female was admitted with generalized weakness. She had no other symptoms. On arrival, she was bradycardic with other normal vitals. Physical examination was normal. EKG showed sinus bradycardia with RBBB. She was found to have AKI with creatinine of 4.3 mg/dL (0.6-1.3 mg/dL) and a corrected calcium of 12.2 mg/dL (8.6-10.2 mg/dL). TSH was 4.64 uIU/mL (0.35-5.50 uIU/mL). Chest X-ray showed no abnormalities. Renal ultrasound revealed bilateral medical renal disease, with several non-obstructing calculi in the right kidney. The patient was managed with intravenous fluids. Her creatinine improved to 3.1 mg/dL; however, the calcium remained elevated at 11.8 mg/dL. PTH was 31 pg/mL (12-88 pg/mL) and urine 24-hr calcium was elevated at 470 mg (35-250 mg). 25-OH vitamin D level was 40 ng/mL (30-100 ng/mL). With no response to intravenous hydration, IV bisphosphonates were initiated. Despite that, her calcium remained at 11.9 mg/dL. On obtaining a more detailed history, it was revealed that a skin punch biopsy performed six years prior showed sarcoid granulomatous dermatitis. The 1, 25 dihydroxy vitamin D was 93 pg/mL (20-79 pg/mL). The ACE level was high at 64 U/L (8-52 U/L). CT chest showed no evidence of granulomatous disease, including the absence of hilar adenopathy. The patient was started on prednisone 20 mg/day. Her calcium trended down to 10.7 mg/dL over the next three days. Although cutaneous sarcoidosis may not be life-threatening, it may have substantial psychological and social impacts. Hypercalcemia is a high prevailing complication of systemic sarcoidosis. It occurs due to the uncontrolled synthesis of 1,25-OH D3 by macrophages in the sarcoid granulomata. As a result, there is increased calcium absorption in the intestine and calcium resorption in the bone. Glucocorticosteroids act by inhibiting the 1alpha-hydroxylase activity of macrophages. Prednisone 20 to 40 mg/day followed by a taper is the recommended dose. Other medications that may be used include antimalarials, thalidomide, methotrexate, and other immunomodulatory agents. Hypercalcemia in a patient with cutaneous sarcoidosis and no pulmonary involvement is a rare presentation. It is essential to recognize that long-term follow-up is advised for those with cutaneous sarcoidosis, as some may develop systemic involvement subsequently. Presentation: No date and time listed

New sarcoidosis guidelines: Are we near to perfection?

New sarcoidosis guidelines: Are we near to perfection?

Osseous sarcoidosis with fingers distal phalanx autoamputation in a treatment-naïve case

We report a case of a 55-year-old female, with 3 years history of a treatment-naive sarcoidosis involving lungs with second-stage sarcoidosis, skin in form of lupus pernio, and bones with multiple cystic areas of the digital bones, soft tissue swelling, nails dystrophy and missed phalanges. Uveitis frequently associated with bone sarcoidosis, was absent in our patient. Prior to attend to our clinic, she had been treated with short courses of nonsteroidal anti-inflammatory drugs and analgesics. No long-term corticosteroids therapy had been reported. Osseous lesions led to autoamputation of distal phalanges of two fingers. It is a very rare complication of unclear mechanism; however, they have been attributed by Several authors to long-term corticosteroid therapy, hypothesis not supported by our findings. Systemic corticosteroids are considered as standard medication. There are no firm guidelines for dosage and period of the treatment. Steroidsparing agents are often added mainly methotrexate, in some patients, biologics can be considered. Unfortunately for our patient, there was not enough time for management as she died lately

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

Pulmonary Sarcoidosis: Diagnosis and Differential Diagnosis.

Sarcoidosis is a multisystem disorder of unknown origin and poorly understood pathogenesis that predominantly affects lungs and intrathoracic lymph nodes and is characterized by the presence of noncaseating granulomatous inflammation in involved organs. The disease is highly heterogeneous and can mimic a plethora of other disorders, making diagnosis a challenge even for experienced physicians. The evolution and severity of sarcoidosis are highly variable: many patients are asymptomatic and their disease course is generally benign with spontaneous resolution. However, up to one-third of patients develop chronic or progressive disease mainly due to pulmonary or cardiovascular complications that require long-term therapy. The diagnosis of sarcoidosis requires histopathological evidence of noncaseating granulomatous inflammation in one or more organs coupled with compatible clinical and radiological features and the exclusion of other causes of granulomatous inflammation; however, in the presence of typical disease manifestations such as Löfgren’s syndrome, Heerfordt’s syndrome, lupus pernio and asymptomatic bilateral and symmetrical hilar lymphadenopathy, the diagnosis can be established with high level of certainty on clinical grounds alone. This review critically examines the diagnostic approach to sarcoidosis and emphasizes the importance of a careful exclusion of alternative diagnoses.

Lupus pernio: Skin manifestation of systemic disease

62-year-old woman presented to our institution with the chief complaint of slowly progressive exertional dyspnea over the preceding two years in conjunction with a cough and facial rash. Physical examination was remarkable for erythematous to violaceous nodules and plaques around eyes, over eyelids and over the nose (Fig. 1A). Complete blood count, comprehensive metabolic panel, erythrocyte sedimentation rate and C-reactive protein were unremarkable. Computerized tomography(CT) of chest Innumerable groundglass nodules again identified in bilateral lungs as well as scattered areas of tree-in-bud pattern (Fig. 1B).

Sarcoidosis: A Clinical Overview from Symptoms to Diagnosis.

Sarcoidosis is a multi-system disease of unknown etiology characterized by the formation of granulomas in various organs. It affects people of all ethnic backgrounds and occurs at any time of life but is more frequent in African Americans and Scandinavians and in adults between 30 and 50 years of age. Sarcoidosis can affect any organ with a frequency varying according to ethnicity, sex and age. Intrathoracic involvement occurs in 90% of patients with symmetrical bilateral hilar adenopathy and/or diffuse lung micronodules, mainly along the lymphatic structures which are the most affected system. Among extrapulmonary manifestations, skin lesions, uveitis, liver or splenic involvement, peripheral and abdominal lymphadenopathy and peripheral arthritis are the most frequent with a prevalence of 25–50%. Finally, cardiac and neurological manifestations which can be the initial manifestation of sarcoidosis, as can be bilateral parotitis, nasosinusal or laryngeal signs, hypercalcemia and renal dysfunction, affect less than 10% of patients. The diagnosis is not standardized but is based on three major criteria: a compatible clinical and/or radiological presentation, the histological evidence of non-necrotizing granulomatous inflammation in one or more tissues and the exclusion of alternative causes of granulomatous disease. Certain clinical features are considered to be highly specific of the disease (e.g., Löfgren’s syndrome, lupus pernio, Heerfordt’s syndrome) and do not require histological confirmation. New diagnostic guidelines were recently published. Specific clinical criteria have been developed for the diagnosis of cardiac, neurological and ocular sarcoidosis. This article focuses on the clinical presentation and the common differentials that need to be considered when appropriate.

Clinical phenotypes of extrapulmonary sarcoidosis: an analysis of a French, multi-ethnic, multicentre cohort.

Sarcoidosis is a rare disease of unknown cause with wide heterogeneity in clinical features and outcomes. We aimed to explore sarcoidosis phenotypes and their clinical relevance with particular attention to extrapulmonary subgroups.The Epidemiology of Sarcoidosis (EpiSarc) study is a French retrospective multicentre study. Sarcoidosis patients were identified through national hospitalisation records using appropriate codes from 11 hospital centres between 2013 and 2016 according to a standardised protocol. Medical charts were reviewed. The phenotypes of sarcoidosis were defined using a hierarchical cluster analysis.A total of 1237 patients were included (562 men and 675 women). The mean age at sarcoidosis diagnosis was 43.5±13 years. Hierarchical cluster analysis identified five distinct phenotypes according to organ involvement and disease type and symptoms: 1) erythema nodosum, joint involvement and hilar lymph nodes (n=180); 2) eye, neurological, digestive and kidney involvement (n=137); 3) pulmonary involvement with fibrosis and heart involvement (n=630); 4) lupus pernio and a high percentage of severe involvement (n=41); and 5) hepatosplenic, peripheral lymph node and bone involvement (n=249). Phenotype 1 was associated with being European/Caucasian and female and with non-manual work, phenotype 2 with being European/Caucasian, and phenotypes 3 and 5 with being non-European/Caucasian. The labour worker proportion was significantly lower in phenotype 5 than in the other phenotypes.This multicentre study confirms the existence of distinct phenotypes of sarcoidosis, with a non-random distribution of organ involvement. These phenotypes differ according to sex, geographical origin and socioprofessional category.

Manifestations of Besnier-Boeck-Schaumann sarcoidosis on skin

Besnier-Boeck-Schaumann sarcoidosis is a multisystemic disease of unknown etiology. Only about 25 % of patients have cutaneous involvement. Every patient with cutaneous sarcoidosis should be evaluated for possible systemic sarcoidosis. This article contains descriptions and original images of clinical forms of the disease: miliary sarcoidosis, circinate sarcoidosis, nodular sarcoidosis, angiolupoid (Brocq-Potrier), lupus pernio (Besnier-Tennesson), erythema nodosum, subcutaneous sarcoidosis (Darier-Roussy). Differential diagnosis and treatment of patients are discussed.

Unusual presentations of cutaneous tuberculosis

Cutaneous tuberculosis occurs in 1–2% of world cases of tuberculosis and more common in tropical countries. It presents with different clinical forms. Unusual clinical presentations are not uncommon and awareness of these will help in suspecting and managing these patients successfully. Lupus pernio like lupus vulgaris, tuberculosis of glans penis and lichen scrofulosorum on the distal parts of limbs are presented here because of their unusual clinical presentation.

Catch the rainbow: Prognostic factor of sarcoidosis.

Sarcoidosis is a systemic, chronic, inflammatory disease characterized by noncaseating granuloma formations. The fact that the etiopathogenesis of the disease has not been elucidated yet brings it many theories and assumptions. Being a systemic disease and ability to involve many organs and systems, it attracts the attention of physicians from different branches. In addition to lung involvement, skin, eye, heart, and locomotor system involvement is an important clinical finding. Sarcoidosis may present with very different clinical presentations, and therefore, it is one of the important “imitators” in the medical literature. I like sarcoidosis as a “rainbow,” it is a disease that contains the characteristics of many diseases. Different clinical, radiological, and laboratory prognostic factors (lupus pernio, chronic uveitis, late-onset disease, chronic hypercalcemia, nephrocalcinosis, Afro-American race, progressive pulmonary sarcoidosis, radiologic Stage 4, bone involvement, neurosarcoidosis, cardiac involvement, and chronic respiratory failure) have been defined in this “rainbow.” Early identification of these factors plays an important role in the determination of treatment strategies, morbidity, and mortality of the disease. In this article, clinical, genetic, laboratory, and radiological factors that determine the prognosis of sarcoidosis are discussed in light of the latest data in the literature.

Sarcoidosis macrocheilitis: A clinical form of telangiectasia

Orofacial granulomatosis (OFG) is an uncommon chronic granulomatous condition with a multifactorial etiology and pathogenesis. Genetic, immunologic, allergic, and infectious mechanisms have been implicated. OFG is often used as a descriptor to encompass all entities with orofacial swelling and histologic evidence of non-caseating granulomas. Case report: A 53-year-old patient, admitted for management of macrocheilitis and lesion in the nose, whose exploration is in favor of lupus pernio.

Lupus pernio (Besnier-Tenneson syndrome): A rare form of sarcoidosis.

Lupus pernio (LP) is a chronic non-life threatining type of cutaneous sarcoidosis that can be related to chronic fibrotic sarcoidosis, hyperglobulinemia and hypercalcemia. The aim of this case report is to evaluate the clinical and demographic features of cutaneous sarcoidosis mainly presenting with a rare manifestation of LP. In this paper we report a case of systemic sarcoidosis presenting with LP and a review of the available literature. LP is a rare presentation with infiltrated erythematoviolaceous plaques affecting the nose. We address the main management approach, and possible association with an underlying systemic sarcoidosis. LP is a rare but chronic manifestation of systemic sarcoidosis that needs to be treated in order to prevent cosmetic defects and psychological effects. It is important to recognize such a condition early in order to avoid a delay in treatment and worsening of the condition, both physically and psychologically. Further research regarding the diagnostic approach and management is required to understand this condition thoroughly.

An Unusual Variant of Cutaneous Sarcoidosis

Sarcoidosis is a multisystem inflammatory disease of unknown etiology, characterized by noncaseating granuloma variably infiltrating the respiratory tract, ganglions, eyes, internal organs and the skin. The heterogeneity of cutaneous sarcoidosis represents a diagnostic challenge for physicians and affirms its reputation as a 'great imitator'. Common specific lesions associated with sarcoidosis are papules, plaques, nodules, scar sarcoidosis and lupus pernio.

Cutaneous Manifestations of Sarcoidosis : Reports of Two Cases

Sarcoidosis is a multisystem disease that may involve any organ or system. Cutaneous manifestations occur in 25- 30% of patients with sarcoidosis. Sarcoidosis can present with reactive non- specific lesions like erythema nodosum or specific manifestations showing granulomatous microscopic pathology including papules, plaques, lupus pernio, scar sarcoidosis, and rare morphologies such as alopecia, hypopigmented patches and ichthyosiform lesions. Here we present two interesting cases who presented with cutaneous manifestations and causing diagnostic diemma.Birdem Med J 2016; 6(2): 130-133