Patient Presentation
A 5-year-old African-American female came to clinic for her kindergarten well-child exam. Her mother had no concerns until the physician reviewed the family history. She then became tearful as she said her mother had just been diagnosed with sarcoidosis and was having a lot of respiratory problems. She was worried that her daughter could also get it when she was older. The past medical history showed a history of mild intermittent asthma that was well-controlled with albuterol. The family history also showed the grandmother’s sister had died of some unknown lung problem in her 40s. There was diabetes in both sides of the family, and heart disease and stroke on the parental side. The review of systems was negative.

The pertinent physical exam revealed a talkative school-age child with growth parameters around the 75% and tracking. Her vital signs were normal. Her examination was normal.

The diagnosis of a healthy kindergartener was made and immunizations and patient education was given. The pediatrician noted that sarcoid was not very common but was more common in African-American patients. The mother also disclosed that she had a lingering cough from a recent upper respiratory infection and was afraid that she may also have sarcoidosis. They talked more about some of her fears including not wanting to see her own doctor because she was afraid. In the end the mother said she was going to make an appointment with her own doctor, and lived close enough to go with her mother to her next doctor’s appointment. “Maybe hearing it first-hand I can understand better and get some piece of mind for myself,” she said.

Discussion
Sarcoidosis is a chronic granulomatous disease causing multiorgan system disease of unknown pathophysiology. It appears that it has a genetic predisposition that may be triggered by an environmental cause such as contact with organic and inorganic materials.

Sarcoid is rare in adults and even rarer in children. The exact epidemiology is difficult to discern because of the rarity and also lack of international databases to chronicle the disease. In series, the incidence decreases with decreasing age generally. Estimates include 0.29 – 4.9/100,000 pediatric-aged patients. Some studies show male and female genders are the same, but other support an increased incidence in females. Also black children usually have higher incidence but it also depends largely on the population the patients are drawn from. There is a strong familial predisposition. Peak incidence is in 25-40 year olds.

There is no specific test for sarcoidosis. Chest radiograph shows a range of disease from nothing to intraparenchymal fibrosis. Mediastinal lymphadenopathy is common. Ultrasound of the liver and spleen may identify organ involvement. Skin, lymphatic and joint manifestations may be easier to note from physical examination. Laboratory testing is non-specific but may show signs of inflammation with elevated erythrocyte sedimentation rate, inflammatory anemia, hypergammaglobulinemia, and elevated transaminases. Angiotensin converting enzyme may be elevated as well. Biopsy of identified granulomas may show the more typical central follicle with peripheral macrophages and no necrosis. Biopsy also helps to rule out other diagnoses.

Treatment is based on adult disease and usually involves using corticosteroids. Other immunomodulator/suppressor therapy also is used. Although many children will have remission with no active disease and no treatment, it is a chronic disease which may recur and patients need to be monitored for long periods of time. There are no specific prognostic factors but children with pulmonary problems and those with more severe pulmonary problems, unsurprisingly, appear to have worse outcomes.

Some other diseases which have granulomatous manifestations include:

• Crohn’s disease
• Drug induced
• Granuloma annulare
• Immunodeficiency states
  • Chronic granulomatosis disease
  • Histiocytosis
  • Tumor
• Pneumonitis – aspiration, hypersensitivity
• Mycobacterium infections including tuberculosis
• Wegner’s granulomatosis

Learning Point
Sarcoid commonly presents with non-specific symptoms including fever, fatigue, weight loss or non-weight gain are very common. Chest problems include cough, chest pain and dyspnea.
Other potential signs include lymphadenopathy, hepatomegaly, splenomegaly, eye changes (uveitis), joint pain, and skin problems (nodules, plaques and papules).
Other systems can be affected as well but are less common. Young children often present with more non-specific symptoms and adolescents present more similar to adults which have more pulmonary manifestations.

Questions for Further Discussion
1. What is in the differential diagnosis of chronic cough? A review can be found here
2. What is in the differential diagnosis of weight loss or not gaining weight? A review can be found here
3. What are indications for a genetics consultation?

Related Cases

Disease: Sarcoidosis

Symptom/Presentation: Health Maintenance and Disease Prevention

Specialty: Allergy / Pulmonary Diseases | Immunology

Age: School Ager

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for this topic: Sarcoidosis

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Lakdawala N, Ferenczi K, Grant-Kels JM. Granulomatous diseases: Kids are not just little people. Clinics in Dermatology. 2017;35(6):555-565. doi:10.1016/j.clindermatol.2017.08.006

Nathan N, Sileo C, Calender A, et al. Paediatric sarcoidosis. Paediatric Respiratory Reviews. 2019;29:53-59. doi:10.1016/j.prrv.2018.05.003

D’Ascenzi F, Valentini F, Pistoresi S, et al. Causes of sudden cardiac death in young athletes and non-athletes: systematic review and meta-analysis. Trends in Cardiovascular Medicine. 2022;32(5):299-308. doi:10.1016/j.tcm.2021.06.001

Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa