Heerfordt syndrome is a rare manifestation of sarcoidosis. The symptoms include inflammation of the eye ( uveitis), swelling of the parotid gland, chronic fever, and in some cases, palsy of the facial nerves.

Causes

The exact cause of Heerfordt syndrome has not yet been definitively determined. Of those patients who have been diagnosed with Heerfordt syndrome, 15% have a close relative who also has the syndrome. One possible explanation is that the syndrome results from a combination of an environmental agent and a

hereditary Heredity, also called inheritance or biological inheritance, is the passing on of traits from parents to their offspring; either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic inform ...

predisposition. ''

Mycobacterium ''Mycobacterium'' is a genus of over 190 species in the phylum Actinomycetota, assigned its own family, Mycobacteriaceae. This genus includes pathogens known to cause serious diseases in mammals, including tuberculosis ('' M. tuberculosis'') and ...

'' and '' Propionibacteria'' species have both been suggested as the environmental agent, though the evidence for this is inconclusive.

Diagnosis

In patients that have already been diagnosed with sarcoidosis, Heerfordt syndrome can be inferred from the major symptoms of the syndrome, which include parotitis, fever, facial nerve palsy and anterior uveitis. In cases of parotitis, ultrasound-guided biopsy is used to exclude the possibility of lymphoma. There are many possible causes of facial nerve palsy, including Lyme disease, HIV,

Melkersson–Rosenthal syndrome Melkersson–Rosenthal syndrome is a rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips (usually the upper lip: cheilitis granulomatosis) and the development of folds and furrows in the tongue ( ...

, schwannoma, and

Bell's palsy Bell's palsy is a type of facial paralysis that results in a temporary inability to control the facial muscles on the affected side of the face. In most cases, the weakness is temporary and significantly improves over weeks. Symptoms can vary fr ...

. Heerfordt syndrome exhibits spontaneous remission.

Treatment

Treatments for sarcoidosis include

corticosteroid Corticosteroids are a class of steroid hormones that are produced in the adrenal cortex of vertebrates, as well as the synthetic analogues of these hormones. Two main classes of corticosteroids, glucocorticoids and mineralocorticoids, are involv ...

s and

immunosuppressive drug Immunosuppressive drugs, also known as immunosuppressive agents, immunosuppressants and antirejection medications, are drugs that inhibit or prevent activity of the immune system. Classification Immunosuppressive drugs can be classified into ...

Prevalence

In the United States, sarcoidosis has a prevalence of approximately 10 cases per 100,000 whites and 36 cases per 100,000 blacks. Heerfordt syndrome is present in 4.1 to 5.6% of those with sarcoidosis.

History

The condition was first described in 1909 by Danish

ophthalmologist Ophthalmology ( ) is a surgery, surgical subspecialty within medicine that deals with the diagnosis and treatment of eye disorders. An ophthalmologist is a physician who undergoes subspecialty training in medical and surgical eye care. Followin ...

Christian Frederick Heerfordt, for whom the syndrome is now named. It was originally attributed to

mumps MUMPS ("Massachusetts General Hospital Utility Multi-Programming System"), or M, is an imperative, high-level programming language with an integrated transaction processing key–value database. It was originally developed at Massachusetts Gener ...

, but after further studies by Swedish doctor Jan G. Waldenström in 1937, it was classified as a distinct manifestation of sarcoidosis.

Notes

References

External links

{{Sarcoidosis Monocyte- and macrophage-related cutaneous conditions Autoimmune diseases Syndromes affecting the eye Facial nerve disorders Syndromes affecting the nervous system