Previous studies in the Republic of Ireland have demonstrated a high national prevalence of sarcoidosis. Observations in our sarcoid clinic suggested a high prevalence of the disease among siblings and prompted a survey to quantify this phenomenon. The study group comprised 114 index patients with biopsy proved sarcoidosis and a total sibling pool of 534 individuals. Eleven of the index patient...

Measurement of serum angiotensin-converting enzyme (ACE) activity can be helpful in the diagnosis and disease monitoring of sarcoidosis. Elevated serum ACE activity is found in 60-70% of sarcoidosis patients. Usually, the ACE activity is mildly increased (<3-fold the upper limit of the reference range) in sarcoidosis patients. Extremely elevated ACE activity is suggestive of the benign conditio...

Sarcoidosis is an immune mediated disease thought to be caused by complex interaction between genetic and environmental factors. Involvement of genetic factors in sarcoidosis is supported by familial clustering, increased concordance in monozygotic twins and varying incidence and disease presentation among different ethnic groups. Studies have revealed several human leukocyte antigen (HLA) and ...

Heerfordt's syndrome is an unusual manifestation of sarcoidosis consisting of parotitis with chronic or subacute uveitis and often complicated by cranial nerve pareses, usually of the facial nerve. Originally described in 1909,1 it was not recognised as a manifestation of sarcoidosis until 1937. The complete picture is rare. Scadding2 had no cases of the complete syndrome in his series, and Gre...

Sarcoidosis is a chronic inflammatory disease with unknown cause characterized by non-caseating granuloma formations. It may present with bilateral hilar lymphadenopathy, skin lesions, the involvement of eye and symptoms on the locomotor system. FMF (Familial Mediterranean Fever) is an autosomal recessive autoinflammatory disease, characterized by recurrent episodes of fever and polyserositis. ...

Sarcoidosis is by definition a disease of "unknown causes," but recent epidemiologic advances suggest that the long-standing definition of sarcoidosis may soon need to be amended. The recently completed ACCESS (A Case-Control Etiologic Study of Sarcoidosis) study was not able to definitively identify the "cause" of sarcoidosis, but yielded important findings regarding familial and environmental...

Background Granulomatous autoinflammatory diseases are monogenic syndromes caused by mutations in the region encoding nucleotide-binding domain of oligomerization domain-containing 2 gene. Blau syndrome and early-onset sarcoidosis familial sporadic forms same disease very rare. Many organ systems may be involved; however, neurologic involvement is infrequent. We reported a case encephalitis 12-...

Sarcoidosis uncommonly presents with bronchial narrowing, produced by mucosal lesions or external compression by enlarged glands. We report two sisters with sarcoidosis who presented with severe inspiratory stridor as a result of obstruction of the major airways. An unusual feature of the second case was unilateral glandular enlargement. This produced such severe obstruction that mechanical dil...