Sarcoidosis, Susceptibility to, 1

Alternative Names

  • SS1
  • Sarcoidosis
  • Sarcoid Disease
  • Boeck Sarcoid
  • Besnier-Boeck-Schaumann Disease
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WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

OMIM Number

181000

Mode of Inheritance

Isolated cases

Gene Map Locus

6p21.32

Description

Sarcoidosis is a disorder of the immune system characterized by the appearance of granulomatous nodules, especially on the lungs and lymph nodes. Occasionally, other organs like the eyes, skin, liver, and heart, and other organ systems, such as the musculoskeletal, nervous, and/or endocrine systems may also be affected. Apart from the granulomas, other symptoms of the condition are not definitive, and include vague features like fatigue, weight loss, aches and pains, arthritis, myositis, dyspnea, dry cough, skin lesions (ranging from rashes and noduli to erythema nodosum and lupus pernio), and ocular abnormalities (dry eye, blurry vision, uveitis, retinal inflammation). When other organs are affected, more severe symptoms, like lung scarring, and problems involving the nervous system, heart liver, and fertility, can be expected.

Sarcoidosis shows a very varied incidence among different populations. Among African Americans the disease is 10-17 times more common (35-64/100,000) than in whites. Scandinavians have the highest frequency of this condition in the world, whereas other populations like South East Asians, Native Americans, Eskimos, etc. have a very low incidence of the disease. The disease tends to show itself mostly between the ages of 25 and 35, and 45 and 65 years. Biopsies of affected areas, chest X-rays, lung function tests, bronchoscopy, and slit-lamp examination are some of the preliminary examinations conducted to diagnose the condition in suspected individuals. A lot of times, sarcoidosis tends to go away on its own in two to three years, without the help of medications. Therefore, doctors tend to prescribe a wait and see approach. Only in severe cases, is medication prescribed, which may include glucocoticoids, NSAIDs, and colchicine.

Sarcoidosis has shown familial clustering in some cases. In addition, monozygotic twins are more likely to develop the condition than dizygotic twins. HLA-DRB1 has been found to confer susceptibility to the disease. Other HLA associations include HLA-DPB1 and HLA-DRB3.

Epidemiology in the Arab World

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Other Reports

Jordan

Sharara and Hijazi (1998) reported for the first time a case of familial sarcoidosis in Jordan. The proband was a 58-year old non-smoker woman who presented with a 2-month history of dyspnea, chest discomfort, weakness, fever, dry cough, and erythema nodosum. She was found to have painful nodular lesions on both legs. She was found to have bilateral hilar lymphadenopathy and lung infiltrates on chest X-ray and CT scan. Analysis of blood gases revealed hypoxemia, while pulmonary function tests showed restrictive pattern with reduced forced expiratory volume and forced vital capacity. Lymph node biopsies revealed non-caseating epitheloid granulomas. She was put on a corticosteroid for a period of 6-months, and withdrawn gradually after chest radiographs and pulmonary function tests returned to normal. Four months after her presentation, her 35-year old non-smoker son also showed up with arthralgia in ankles, erythema nodosum, dyspnea, chest discomfort, weakness, fever, and dry cough. Like his mother, chest X-rays showed bilateral hilar lymphadennopathy, which was confirmed by CT scan, and lung biopsies revealed non-caseating epitheloid granulomas. He was given non-steroidal anti-inflammatory drugs. His chest radiographs were normal a year later. Both patients had negative acid fast bacilli smear and negative culture in sputum, bronchial wash and tissue biopsies, excluding tuberculosis. Both patients were followed for 4-years and had no relapse.

[Sharara A, Hijazi M. Fmailial sarcoidosis in a Jordanian family. Qatar Med J. 1998; 7(2):55-6.]

Saudi Arabia

Al-Hoqail (2005) described a 70-year-old Saudi male patient who presented with a cough of 5-months duration and shortness of breath, with no complaints of orthopnea or paroxysmal nocturnal dyspnea. He was found to have multiple symmetrical erythematous lesions covered with silvery white scales of 15-years duration, on the elbows, knees, scalp, and sides of both buttocks, although he had no family history of such a condition. Noncaseating, granulamatous inflammations were visible in the skin biopsy. In addition, chest radiographs showed bilateral diffuse reticulo-nodular pattern, while the CT scan revealed interstitial pulmonary fibrosis. All laboratory investigations were normal. In light of the above, the patient was diagnosed with sarcoidois, and was prescribed prednisolone, and topical application of salisalic acid. The patient's condition improved significantly in two-month's time, with all the skin lesions disappearing.

[Al-Hoqail IA. Case report of a rare cutaneous manifestation of sarcoidosis. Bahrain Med Bull. 2005; 27(2)]

Syria

Douri et al. (2003) reported a 32-year old Syrian man with a severely disfiguring sarcoidosis of the scalp without any systemic involvement. The patient presented with progressive patchy hair loss of 8-months' duration, which did not respond to application of topical corticosteroids. The affected area was mildly pruritic with two discrete, erythematous, and round patches of cicatrical alopecia. Upon biopsy of the affected area, a normal epidermis with epitheloid cell granulomas in the dermis, and multinucleated giant cells in the reticular dermis and subcutaneous tissue were visualized. No fungal or bacterial growth could be detected. The patient was otherwise healthy, and no abnormalities were detected in the chest and bone radiographs and blood analysis. He was diagnosed with cicatrical alopecia due to sarcoidosis and was treated with systemic steroids, upon which the hair loss stopped, although no re-growth occurred.

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