Herein we report a patient who presented with the symptoms of early onset sarcoidosis and also had partial interferon-γ receptor 1 deficiency that presented with BCG-osis. [ncbi.nlm.nih.gov]

Childhood sarcoidosis in Denmark 1979-1994: Incidence, clinical features and laboratory results at presentation in 48 children. Acta Paediatr 2004;93:30-6. 2. Schaller JG. Juvenile rheumatoid arthritis. [ijdvl.com]

• Intermittent Fever

  Intermittent fever and synovial swelling may mask sarcoidosis in children less than 4 years old. [ncbi.nlm.nih.gov]

  fever, and nodular skin rash. [readbyqxmd.com]

• Turkish

  […] nephritis, nephrocalcinosis and chronic renal failure has also been observed. 11, 21, 22, 37 In several cases, the granulomatous pattern of nephritis has been confirmed by biopsy. 22, 38 The coexistence of renal cell carcinoma has been described in a Turkish [rmdopen.bmj.com]

• Military Personnel

  In Japanese persons, ophthalmologic and cardiac involvement are more common than in other races. [18] It is more common in certain occupations, namely firefighters, educators, military personnel, persons who work in industries where pesticides are used [en.wikipedia.org]

• Recurrent Chest Pain

  chest pain, pleuritis and pericarditis were also described. 5, 53 All the described patients carried the IVS8 158 CARD15/NOD2 variant and, among these, several showed a concomitant p.R702W mutation. 5, 53 In addition, heterozygous p.T189M and p.R703C [rmdopen.bmj.com]

• Mucus in Stool

  […] in stool, nausea, vomit and weight loss represent the most frequent clinical findings and can be associated with systemic symptoms such as fever and fatigue. 58, 59 Concomitant autoimmune diseases and/or extraintestinal manifestations, as spondiloarthritis [rmdopen.bmj.com]

• Eruptions

  Symptoms of early onset sarcoidosis characterized by skin eruptions, arthritis, and uveitis mimic those of systemic type juvenile rheumatoid arthritis (JRA). [ncbi.nlm.nih.gov]

  The skin involvement in juvenile idiopathic arthritis is a transient erythematous macular rash whereas sarcoidosis can present with varied skin eruptions including erythema, papules, plaques and ichthyosiform lesions. [3] As skin lesions may appear before [ijdvl.com]

  The most frequent cutaneous eruptions include soft, red to yellowish brown, or violaceous, flat-topped papules, most frequently found on the face. [emedicine.medscape.com]

  Lesions can range from non-specific maculopapular eruptions, such as plaques and nodules, to erythema nodosum and lupus pernio. Erythema nodosum is the characteristic lesion of acute sarcoid, which has a good prognosis. [aafp.org]

• Cutaneous Manifestation

  A comprehensive review of the literature on 30 cases of sporadic type of EOS revealed that all patients had cutaneous manifestations, with all but one displaying granulation. A majority of EOS patients have R334W/Q. [ncbi.nlm.nih.gov]

  In appraisal of cutaneous manifestations of sarcoidosis, Pruystowsky and Sanchez examined types and appearance of cutaneous sarcoid lesion [ 29 ]. [omicsonline.org]

• Photosensitivity

  There was no history of fever, dyspnea, chest pain, abdominal pain, muscle weakness or photosensitivity. The family history was unremarkable. [ijdvl.com]

Workup for recurrent disease revealed thrombocytopenia, hepatosplenomegaly, and a left pleural effusion. Cultures obtained from pleural fluid were positive for Mycobacterium tuberculosis. The infection was treated and the patient recovered. [omicsonline.org]

"Sarcoidosis Workup". Medscape Reference. WebMD. Archived from the original on 1 March 2014. Retrieved 19 February 2014. Allmendinger A, Perone R (2009). "Case of the Month". Diagnostic Imaging. 31 (9): 10. Joanne Mambretti (2004). [en.wikipedia.org]

• Joint Space Narrowing

  In the same study, other significant radiological findings were represented by biconcave radial epiphysis, abnormal plump distal ulna and dysplasia of the scaphoid and lunate bone. 11 Moreover, a high percentage of osteopenia and joint space narrowing [rmdopen.bmj.com]

Involvement of the orbit and posterior segment of the eye in early-onset sarcoidosis may necessitate prompt and aggressive immunosuppressive treatment to prevent a poor visual outcome. [ncbi.nlm.nih.gov]

Master the latest advances in ophthalmology: radical changes in the management of macular disease, including the widespread introduction of VEGF inhibitor therapy; recent developments in the investigation and treatment of retinal vascular disease; new [books.google.com]

The clinical characteristics, diagnosis, treatment, and outcome for neurosarcoidosis in China are poorly understood. [readbyqxmd.com]

Early and correct diagnosis is important in light of the severe disease prognosis, and the possible therapeutic options. [ncbi.nlm.nih.gov]

Secondary glaucoma, together with sarcoid uveitis, may be severe and portends a poor prognosis with associated severe visual loss. Posterior segment lesions occur in up to 20% of patients with ocular sarcoidosis. [aao.org]

Early sarcoid arthritis is often self-limited, lasting for days to months, and the prognosis is excellent. [rheumaknowledgy.com]

Genetic factors may also be important in defining the pattern of disease presentation, its severity, and the prognosis. [emedicine.medscape.com]

However, the activity of the disease may fluctuate over time. 2.10 What is the long-term prognosis (predicted outcome and course) of the disease? The available data concerning the prognosis in the long-term is limited. [printo.it]

The aim of this study was to assess the efficacy of thalidomide in patients with severe EOS, based on etiology supporting an initial role of NF-kappaB in activation of this disease. [ncbi.nlm.nih.gov]

These findings indicate that the majority of EOS cases reported in Japan shows the genetic etiology of NOD2 mutations that cause constitutive NF-kappaB activation. [jstage.jst.go.jp]

DISEASE: Sarcoidosis, early-onset Entry H01309 Disease Name Sarcoidosis, early-onset Description Early-onset sarcoidosis (EOS) is a special subtype of sarcoidosis, a systematic inflammatory disease with unknown etiology. [genome.jp]

Sarcoidosis and juvenile idiopathic arthritis are both multisystem disorders with poorly understood etiologies. The diagnosis of juvenile idiopathic arthritis depends on the history, clinical features and radiological findings. [ijdvl.com]

References: [1] [2] Epidemiological data refers to the US, unless otherwise specified. Etiology The cause of sarcoidosis is still unknown ;. [amboss.com]

There are very few epidemiological data on children. [elsevier.es]

The purpose of the prospective study was to review epidemiologic data on incidence, prevalence, and clinical characteristics of sarcoidosis. Data was obtained through surveys obtained twice a year. [omicsonline.org]

"The epidemiology of sarcoidosis in Rochester, Minnesota: a population-based study of incidence and survival" (PDF). American Journal of Epidemiology. 123 (5): 840–5. doi : 10.1093/oxfordjournals.aje.a114313. PMID 3962966. [en.wikipedia.org]

Epidemiology Sarcoidosis occurs worldwide, with a prevalence of about 4.7-64 in 100,000, and an incidence of 1.0-35.5 in 100,000 per year [ 1 ]. The highest rates are reported in northern European/Scandinavian and African-American individuals. [patient.info]

Signaling protein and cytokine expression were examined, and the results of these experiments challenge current theories of constitutive NOD2 activation in the pathophysiology of Blau syndrome... [readbyqxmd.com]

Current hypotheses suggest that the etiology is multifactorial : References: [3] Pathophysiology Sarcoidosis is a systemic disorder characterized by both T-cell dysfunction and increased B-cell activity with subsequent local immune hyperactivity and inflammation [amboss.com]

The exact mechanism of this relation is not known, but some evidence supports the hypothesis that this is a consequence of Th1 lymphokine prevalence. [55] [82] Tests of delayed cutaneous hypersensitivity have been used to measure progression. [83] Pathophysiology [en.wikipedia.org]

Involvement of the orbit and posterior segment of the eye in early-onset sarcoidosis may necessitate prompt and aggressive immunosuppressive treatment to prevent a poor visual outcome. [ncbi.nlm.nih.gov]

Conclusion: TNF inhibitors appear to be more effective than IL-6 inhibitor in the treatment of EOS, and may have a potential to prevent the onset of uveitis. Disclosure: T. Nagakura, None; T. Yamatou, None; T. Kubota, None; H. Wakiguchi, None; Y. [acrabstracts.org]

A 1, 5 Calcitonin (Miacalcin) and bisphosphonates may be useful in preventing osteoporosis in patients with sarcoidosis taking long-term steroid therapy. [aafp.org]