Losing Face: The Personal and Social Impact of Scleroderma-Related Facial Changes, Part 1

by by Sharon Wood, Psy.D. (originally published in "Scleroderma Voice," 2002 #2)

Perhaps nothing is so eloquent and significant as the human face. Looking at one another is
our most basic form of conversation, and wherever people meet in a primary or face-to-face relationship it is the face, which is generally the center of attention. It is the source of vocal communication, the expressor of emotions, and the revealer of personality traits. The face is the person him/herself. (Macgregor, 1951, p. 630)

If, as the above author contends, the human face is deeply and profoundly significant, what happens when an individual "loses face," both literally and figuratively? What happens when an individual, as the result of an illness, accident, or injury, is confronted with an unwanted and unanticipated change in facial appearance? What happens when there is very little, if anything, an individual can do to remedy this change?

These are certainly some of the questions, even if unspoken, that many individuals with scleroderma-related facial changes live with on a daily basis as they move through their personal and social worlds, catching a glimpse of themselves in a mirror or store window, or in the reaction of others around them, be they significant or mere strangers. These are questions that may never have a satisfactory resolution; yet they are questions whose answers will ultimately define the individual who has been asked.

This article is the first in a series of several articles to be published in successive issues of "Scleroderma Voice" magazine. The articles are based on the author's recently published dissertation, entitled, "Losing Face: The Effects of Scleroderma-Related Facial Changes on the Relationship with Self and Others."

This first article will focus on four main areas of discussion:

1. the physical and functional changes that occur as a result of scleroderma-related facial changes;
2. the author's personal experience with scleroderma-related facial changes;
3. demographics of the participants who took part in the author's study; and
4. participants' personal and interpersonal experiences with the physical and functional changes that accompany scleroderma-related facial changes.

The second article will focus primarily on the results of this dissertation study, particularly the intra- and interpersonal issues involved in what the author has identified as "the process of losing face."

The final article will offer an interpretation of the results, as well as recommendations for how individuals with scleroderma-related facial changes and those who are an integral part of their lives, including loved ones and health care professionals, can relate and work effectively with each other regarding these changes.

How Likely Are Facial Changes in Scleroderma?
Scleroderma-related facial changes are a very real possibility for the vast majority of individuals with systemic (diffuse and limited) scleroderma and individuals with localized linear scleroderma en coup de sabre. Not only are facial changes a very real possibility, they may be one of the many potentially frightening and disheartening experiences that accompany this illness.

Currently, there is no available data regarding the precise number of patients who develop facial changes as a result of contracting scleroderma. However, one medical researcher speculates that essentially 100% of the patients with systemic forms of scleroderma develop this condition as do approximately 20% of those with localized scleroderma (D. E. Furst, Personal Communication, February 5, 2000).

Incidentally, this author uses the term "facial changes" as opposed to "facial change" in describing the effects of this illness on facial appearance because of the progressive rather than static nature of these changes.

Systemic Scleroderma-Related Facial Changes
As is true for scleroderma in general, facial changes vary in their course and effects from patient to patient and over time in any given individual. In the majority of cases, however, facial appearance for individuals with systemic and linear scleroderma en coup de sabre is altered slowly over time, with changes occurring over several months to a number of years.

In systemic scleroderma there are three recognized phases of skin thickening during the facial change process: the edematous, indurative, and atrophic phases (Clements & Medsger, 1996). These phases generally follow one another as the illness progresses.

In the edematous phase, pitting or nonpitting edema (swelling) may occur in the face and last indefinitely, but the swelling is usually painless.

During the indurative phase, the edema is gradually replaced by a markedly thickened dermis and an increasingly thinned epidermal layer, leading to the loss of skin creases and a "choking out" of hair follicles, sweat glands, and sebaceous glands. The latter process is caused by collagenous deposition in the upper dermis.

In the diffuse form of scleroderma, this process occurs over several months or years, whereas in the limited form of scleroderma (known as the CREST syndrome), this phase may occur slowly over several years, and up to 20 years.

In terms of facial changes, this entire process results in a "characteristic 'pinched nose' or 'mauskopf' appearance, sometimes interpreted as an 'expressionless' facies due to reduced mobility of the eyelids, cheeks, nose, and mouth during ordinary conversation" (Clements & Medsger, 1996, p. 390).

In the atrophic phase, usually occurring after several years, the thickened dermis softens and either reverts to normal thickness or actually becomes thinner than normal.

A "binding down" or "tethering" occurs when the dermis becomes more firmly attached to underlying subcutaneous fat. In this late stage, telangiectasias (clusters of dilated and tortuous capillaries and venules) increase in number and tend to be the dominant visual feature, appearing as a single red spot or in clusters on both cheeks and over the nose (Clements & Medsger, 1996). The latter shape resembles a butterfly and is known as the "butterfly-look."

The vast majority of functional problems that result from systemic scleroderma-related facial changes are due to the effects of microstomia or "small mouth."

In addition to physical pain, the effects of microstomia include:

1. tightly pursed lips that lose their fullness;
2. peri oral subcutaneous fibrosis; and
3. temporomandibular joint (TMJ) involvement.

These effects all contribute to reduced oral aperture and radial furrowing around the mouth. Lip retraction, which accentuates the prominence of the central incisor teeth, also makes normal mouth closure impossible (Clements & Medsger, 1996).

Microstomia greatly interferes with several critical functions including eating, speaking, and proper prophylactic oral hygiene. Many scleroderma patients also suffer from a constriction in the movement of the tongue.

If present, secondary Sjögren's (sicca) syndrome, which interferes with the normal production of saliva, may also offer an additional threat to dentition, that is, the appearance and arrangement of the teeth (Clements & Medsger, 1996).

"Secondary" Sjögren's syndrome, as opposed to "primary," refers to the two forms of this disorder. Secondary Sjogren's syndrome occurs with rheumatic diseases such as rheumatoid arthritis, systemic lupus erythematosus and scleroderma.

Primary Sjögren's syndrome occurs by itself and is not associated with other diseases.

Sjögren's syndrome is an autoimmune disease in which lymphocytes invade and damage moisture-producing glands, primarily of the eyes and mouth, preventing them from producing tears and saliva, respectively (Arthritis Foundation, 1997).

In addition to the physical and functional problems associated with microstomia, there are social and relational side-effects. For example, eating and speaking generally imply human interaction; when these functions are compromised, so too is one's interactional ease and capability.

The effects of microstomia may also limit or interfere with acts of affection and sexuality—vital aspects of human relationships.

In essence, this particular symptom has the capacity to compromise an individual on many different levels – physically and emotionally; personally and interpersonally.

Scleroderma En Coup De Sabre
As noted above, linear scleroderma en coup de sabre is the localized variety of scleroderma that produces facial changes. "En coup de sabre" is a French term which means "cut of the sword." It is so named because its deep lesion or scarring resembles a saber wound.

Scleroderma en coup de sabre is confined to one side of the face and cranium (head) and may occur with or without facial hemiatrophy.

The disorder known as Progressive Hemifacial Atrophy (PHA), or Parry-Romberg syndrome, has considerable clinical overlap with scleroderma en coup de sabre. In fact, there is great debate in the literature as to whether these two syndromes are separate entities or manifestations of the same or related pathogenic processes (Lehman, 1992).

There are three phases that generally accompany scleroderma en coup de sabre: the initial inflammatory phase; induration; and subsequent atrophy of the skin and underlying tissues, including fat and fascia (fiberlike connective tissue).

In severe forms of this disorder, especially those originating in childhood, muscle atrophy, cartilage changes, and impaired bone development in the area of the lesion may occur as well (Lakhani & David, 1984; Mayes, 1999).

In the area of the lesion, there also may be accompanying hair loss, including hair on the scalp, eyebrow, eyelashes, and facial hair. There may also be hyperpigmented borders and telangiectasias in the area of the lesion (David, Wilson, & Woo, 1991).

The most common early sign of scleroderma en coup de sabre is a painless furrow or indentation near the midline of the face, usually on the forehead or at the frontal hairline, which marks the boundary between normal and atrophic tissue (Mayes, 1998; Munchnick, Aston, & Rees, 1979).

The line of thickened skin on the affected side of the face may spread to involve the cheek area, jaw, chin, neck, and upper extremity.

It is interesting to note that in a number of cases of scleroderma en coup de sabre there have been reports of central nervous system involvement (e.g. seizures, epilepsy, focal deficits, headaches), as well as various ocular or eye changes on the affected side of the face (Lederman, 1984).

Ocular changes may include diminished vision, central corneal thickness, dilated pupil, Horner's syndrome, mydriasis, heterochromia iridis, and uveitis (Johnson & Kennedy, 1969).

Author's Personal Experience
Scleroderma and its accompanying facial changes became a particular topic of interest to this author because of my own experience with scleroderma en coup de sabre with hemifacial atrophy. This interest, along with a curious lack of available information on the psychosocial impact of scleroderma-related facial changes, both in the scientific and lay literature, eventually led to my decision to write my doctoral dissertation on this topic.

At the time I began to research my dissertation in 1994, I had lived with scleroderma and its accompanying facial changes for 27 years. I was approximately 12 or 13 when the illness began to manifest on the left side of my face, but I was not diagnosed until I was 18, the day before I was to leave for my first year of college.

Not unlike the case of many other individuals diagnosed with scleroderma, and for the majority of participants in my study, this illness and its accompanying facial changes were so insidious at first, barely discernible to the human eye, and then enigmatic, puzzling doctor after doctor, that it took years to manifest and diagnose.

In my case, the doctor who rendered the diagnosis was a dermatologist whom my family physician had brought in for a consultation. After months of visiting doctors and undergoing various exams and procedures, it took the dermatologist less than a minute to make the correct diagnosis.

My illness was typical in its initial manifestation, although I was not aware of it when it began. However, some years after I was diagnosed, I surveyed photographs taken in middle school and it was then that I noticed the classic early sign of en coup de sabre: the indentation on the forehead.

I also believe my illness began around that time because research reveals a higher incidence of this illness for females at the time of menarche (first menstruation), pregnancy, and menopause (Chazen, Cook & Cohen, 1962); and I had started my menses when I was approximately 12 1/2 years old.

I was 17 when a single plaque, later diagnosed as morphea, appeared on the jaw of the affected side. Over the next few months I experienced severe facial pain, headaches, and had difficulty opening my mouth.

Although the doctors were still unable to diagnose my illness, they prescribed pain medication and valium to treat the symptoms. Several months later the hair on my eyebrows began to fall out, as did portions of my eyelashes.

A small bald spot appeared on my head (which today has progressed to form two deep furrows), and over the next few years progressive hemifacial atrophy developed. I was in my mid-thirties when I also noticed several eye changes; these changes may have occurred years earlier and gone unnoticed.

Although I have experienced functional problems and physical pain over the years as a result of scleroderma-related facial changes, the most difficult challenge for me, by far, has been dealing with the personal and interpersonal ramifications of these changes.

The age at which these changes began to appear perhaps made this experience particularly difficult, given the fact that adolescence and young adulthood is a time when one is searching for her identity and wanting to "fit in" and be accepted by her peers.

At the very least, I was confused about my life, and this newly added dimension made me feel and look different. Having never met another person with scleroderma and its accompanying facial changes during those years increased my sense of confusion and isolation.

It was in the process of interviewing the participants for my study, however, and listening to their stories, that my own experience found its voice and validation.

Study Participants
Although my personal history with scleroderma and the lack of available research on scleroderma-related facial changes laid the foundation for my work, several other factors helped me to further refine my topic and choose the individuals I eventually solicited as participants.

I interviewed 13 women for my study, one of whom had scleroderma en coup de sabre with hemifacial atrophy and served as a participant in the pilot study; 12 of whom had contracted the systemic form of this illness and had lived with scleroderma-related facial changes for at least two years.

I chose only women participants for three reasons:

1. Until recently, the vast majority of medical research has overwhelmingly focused on illnesses that affect males; and medical studies, in general, have recruited primarily white males as participants;
2. Incidence studies demonstrate that females develop systemic and localized scleroderma at least three to eight times more often than males, although Mayes (1999) reports that linear scleroderma tends to affect females and males equally.
3. I hypothesized that, to a greater extent than men, women who contract an illness that causes an alteration in facial appearance would more likely experience, as I had, a profound reaction on both personal and interpersonal levels, especially given that women are relationally oriented and live in a society that places tremendous value on our physical beauty, especially facial beauty.

At the time of the interviews, which took place in the winter and spring of 1999, the participants in my study were between the ages of 34 and 62. Seven of the participants were in their 50's; two were in their 30's; two were in their 40's; and one participant was in her 60's. Of the 12 female participants, nine were Caucasian; two were African-American; and one was Latina. With respect to relational status, all of the women were heterosexual and had been married at least once; eight were currently married; three were single; and one was widowed.

With respect to the physical effects of the illness, 10 of the 12 participants had facial changes that resembled, to one degree or another, what several participants referred to as the "scleroderma-look"—what was described earlier in this article by Clements and Medsger (1996) as the "characteristic 'pinched nose' or 'mauskopf' appearance" (p. 390). During the interview process, Kara and Cheryl, among others, made reference to this particular aspect of their appearance:

Cheryl: Seeing [a well-known spokesperson with scleroderma], seeing her face, a picture of her and her facial involvement, I thought, "Oh, I have that same look."

Kara: When I get my [scleroderma] newsletter, I look at the pictures [of people with scleroderma] ... because to me it's almost like Down's Syndrome; there's certain characteristics. I think I have the same characteristics ...

With respect to symptomatology, the first and most predominant symptoms reported by 10 of the 12 participants in terms of their facial changes were skin tightening and fibrosis. As noted in the testimonies below, four of the participants and one participant's doctor described the effects of these symptoms as resembling a "face lift."

Millie: I could feel tightening, more tightening ... I would tell my friends, "I am getting a face-lift!"

Kara: At first [the facial changes] were like a gentle face lift.

Debbie: It's like I had a face lift ... [my face] sunk in. See, it's just like somebody went in and stuck a needle and sucked the fat out. Almost like cosmetic surgery.

Laura: [My doctor] said, "You're getting a free face lift."

All of the participants reported experiencing various functional difficulties or disabilities due to their facial changes. The vast majority of functional problems were due to the effects of microstomia. All but one of the participants reported developing microstomia, and all of the participants with microstomia reported difficulty with eating.