Working title: Appearance-altering manifestations of IgG4-RD in the head and neck

The physiological effects of rheumatic conditions have been well documented; however, the fact that rheumatic patients may become disfigured as a result of their illness is often overlooked.

—Nichola Rumsey



IgG4-related disease (IgG4-RD) is an immune-mediated disease characterized by organ swelling and fibrotic lesions. For having been established as a clinical entity less than twenty years, significant advances have been made towards understanding the pathophysiology of the disease. However, certain clinical manifestations of IgG4-RD and their impact on quality of life remain poorly understood, likely due to its wide array of presentations and to its relatively recent discovery as a distinct entity.

IgG4-RD is notable for its clinical heterogeneity. In fact, it has been said that “It is easier to indicate which organs are affected seldom (if ever) than to list all of the systems involved by this condition. To date, it has been rare to find confirmed cases of IgG4-RD affecting the brain parenchyma, muscle tissue, synovium, and bone marrow. Virtually every other organ is now known to be affected by IgG4-RD, with some organs affected more commonly than others.”

Because virtually any organ can be affected by IgG4-RD, it is important to consider that some manifestations may be less understood than others, with potentially more unmet needs than others. One such area is the head and neck. Since IgG4-RD is characterized by organ swelling, head-and-neck manifestations of the disease can negatively impact the appearance of the face and surrounding area. And since the face is extremely involved in social contexts, deficits that occur in the appearance of the face will have implications for psychosocial functioning. Thus, the facial region represents an important area of concern for quality of life in patients with IgG4-RD.

In 2008, Siemionow demonstrated that the face is an organ by comparing it to the kidney, revealing that the face has just as many discrete functions and anatomical subunits. She stressed that the face “plays a central role in our daily interactions through its expression of feelings, beauty, and identity; therefore, it is essential in social interaction. As a result, face trauma and disfigurement [can] have deleterious effects on a person’s life.” If the face is an organ, then deficits in the form and function of the face and surrounding area that result from IgG4-RD ought to represent a manifestation of the disease in its own right, separate from any traditionally classified manifestation(s) (e.g., sialadenitis, dacryoadenitis) that produced those appearance deficits.

In addition to the great variability in presentation, IgG4-RD varies considerably in terms of severity. In some cases, IgG4-RD can be severely disfiguring, and it is not difficult to imagine the psychosocial consequences that can ensue. Mild-to-moderate defects seem to be more typical, however even relatively mild cases can have a meaningful psychosocial impact. As Millsopp et. al. explain, “A further complicating factor in dealing with disfigurement and distress is the clinician’s perception of the level of disfigurement and the corresponding expected extent of distress. Research now indicates that the severity of the underlying lesion does not predict distress, and patients with relatively minor wounds can experience distress equal to those with major scarring or disfigurement.”

Despite the clear potential for appearance-altering manifestations of IgG4-RD to impact quality of life, only one mention of appearance-related concerns in the context of IgG4-RD could be found in the literature: a recommendation of “watchful waiting” in patients with isolated submandibular salivary gland involvement as long as the patient “is not bothered by cosmetic issues.”

In this article, I review the spectrum of appearance-altering manifestations of IgG4-RD in the head and neck. I consider the different ways psychological well-being can be affected by these manifestations. I advocate for respect for appearance-related values, for consideration to be given to basic psychological needs, and for appearance-related concerns to be incorporated into clinical assessments and treatment discussions.