Heerfordt syndrome is a rare manifestation of

sarcoidosis Sarcoidosis (also known as ''Besnier-Boeck-Schaumann disease'') is a disease involving abnormal collections of inflammatory cells that form lumps known as granulomata. The disease usually begins in the lungs, skin, or lymph nodes. Less commonly af ...

. The symptoms include inflammation of the eye (

uveitis Uveitis () is inflammation of the uvea, the pigmented layer of the eye between the inner retina and the outer fibrous layer composed of the sclera and cornea. The uvea consists of the middle layer of pigmented vascular structures of the eye and in ...

), swelling of the

parotid gland The parotid gland is a major salivary gland in many animals. In humans, the two parotid glands are present on either side of the mouth and in front of both ears. They are the largest of the salivary glands. Each parotid is wrapped around the ma ...

, chronic

fever Fever, also referred to as pyrexia, is defined as having a temperature above the normal range due to an increase in the body's temperature set point. There is not a single agreed-upon upper limit for normal temperature with sources using val ...

, and in some cases,

palsy Palsy is a medical term which refers to various types of paralysisDan Agin, ''More Than Genes: What Science Can Tell Us About Toxic Chemicals, Development, and the Risk to Our Children;; (2009), p. 172. or paresis, often accompanied by weakness a ...

of the

facial nerve The facial nerve, also known as the seventh cranial nerve, cranial nerve VII, or simply CN VII, is a cranial nerve that emerges from the pons of the brainstem, controls the muscles of facial expression, and functions in the conveyance of taste ...

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 informa ...

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 ''

Propionibacteria ''Propionibacterium'' is a gram-positive, anaerobic, rod-shaped genus of bacteria named for their unique metabolism: They are able to synthesize propionic acid by using unusual transcarboxylase enzymes. Its members are primarily facultative par ...

'' 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 Parotitis is an inflammation of one or both parotid glands, the major salivary glands located on either side of the face, in humans. The parotid gland is the salivary gland most commonly affected by inflammation. Etymology From Greek παρωτῖ ...

, fever, facial nerve palsy and anterior uveitis. In cases of parotitis,

ultrasound Ultrasound is sound waves with frequencies higher than the upper audible limit of human hearing. Ultrasound is not different from "normal" (audible) sound in its physical properties, except that humans cannot hear it. This limit varies ...

-guided

biopsy A biopsy is a medical test commonly performed by a surgeon, interventional radiologist, or an interventional cardiologist. The process involves extraction of sample cells or tissues for examination to determine the presence or extent of a dise ...

is used to exclude the possibility of

lymphoma Lymphoma is a group of blood and lymph tumors that develop from lymphocytes (a type of white blood cell). In current usage the name usually refers to just the cancerous versions rather than all such tumours. Signs and symptoms may include en ...

. There are many possible causes of facial nerve palsy, including

Lyme disease Lyme disease, also known as Lyme borreliosis, is a vector-borne disease caused by the '' Borrelia'' bacterium, which is spread by ticks in the genus '' Ixodes''. The most common sign of infection is an expanding red rash, known as erythema ...

, 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 (f ...

schwannoma A schwannoma (or neurilemmoma) is a usually benign nerve sheath tumor composed of Schwann cells, which normally produce the insulating myelin sheath covering peripheral nerves. Schwannomas are homogeneous tumors, consisting only of Schwann cells ...

, 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 ...

. Heerfordt syndrome exhibits

spontaneous remission Spontaneous remission, also called spontaneous healing or spontaneous regression, is an unexpected improvement or cure from a disease that usually progresses. These terms are commonly used for unexpected transient or final improvements in cancer. S ...

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 inv ...

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 int ...

Prevalence

In the United States, sarcoidosis has a

prevalence In epidemiology, prevalence is the proportion of a particular population found to be affected by a medical condition (typically a disease or a risk factor such as smoking or seatbelt use) at a specific time. It is derived by comparing the number o ...

of approximately 10 cases per 100,000

whites White is a racialized classification of people and a skin color specifier, generally used for people of European origin, although the definition can vary depending on context, nationality, and point of view. Description of populations as ...

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 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. Following a med ...

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 Gene ...

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

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