There are more things in heaven and earth, Horatio,
Than are dreamt of in your philosophy.
– Hamlet (1.5.167-8)

By David J. Elpern, M.D.
The Skin Clinic
12 Meadow Street, Williamstown, MA 01267
djelpern@gmail.com

Keywords: medically unexplained symptoms, medically unexplained dermatological symptoms, MUDS, functional symptoms, dermatology

All dermatologists see patients with complaints that defy definitive medical diagnosis.  They consult us with hopes for a conclusive diagnosis and treatment, or even just for someone to listen to their symptoms with a supportive ear. Some of our patients have baffling, unexplained symptoms often related to cutaneous pain, pruritus, unexplained skin sensations or excoriations.   These patients frequently have other symptoms: headaches, chest pain, gastrointestinal disorders, joint pains, paresthesias, perplexing allergies.  Their histories often reveal visits to many diverse specialists and they may have long medication lists that include psychiatric drugs and opioids. While their symptoms greatly disrupt their lives, no clinician has come up with a “disease” to explain them and successful therapy has been elusive.  We all know how difficult these patients are to treat and how often we disappoint them. It is tempting to refer them on to yet another specialist out of gloomy frustration.  

Over 25 years ago, I read Arthur Kleinman’s “The Illness Narratives,” a book that provides useful guidelines to thinking about these patients.  To Kleinman, illness “conjure[s] up the innately human experience of symptoms and suffering.”  “Disease, however, is the category practitioners create in the recasting of illness in terms of theories of disorder.”¹  George Engel addressed these patients in his landmark paper on the biopsychosocial model,² and Suzanne O’Sullivan has studied these patients in depth. ^3,4  I have come to believe that many patients with obscure complaints are offering us their unique disorders, and we find it difficult to fit them into convenient boxes because medicine does not provide a straightforward framework that allows us to understand them.

Thus, a person’s subjective experience of how she feels may not presuppose an underlying pathology. Illness can be organic, psychological or social.  A person can feel ill, but not have a disease.  Similarly, a person can feel perfectly well in the presence of a life-threatening, disabling disease.  Some functional somatic symptoms (FSS) are given the imprimatur of a specific diagnostic moniker (such as delusional parasitosis), but nonetheless we lack an explanation of their underlying pathogenesis.  I believe these are illnesses rather than diseases; and this insight can help to explain why their treatment is so challenging.

Such enigmas fall into a broad category of disorders dermatologists see that are manifested by medically unexplained dermatological symptoms (MUDS) that have little or no demonstrable disease findings and often have psychiatric or psychosocial comorbidities. Functional somatic syndromes have no confirmable organic pathology and present to all medical specialties, including dermatology.⁵  Our literature has been strangely silent about them.  Functional Dermatological Syndromes (FDS) may be rooted in the patient’s psyche or social situation but these individuals frequently reject psychiatric or social service referrals and respond poorly to the standard treatments we prescribe. 

In her books, Is It All In Your Head?: True Stories of Imaginary Illness,³ and “The Sleeping Beauties: And Other Stories of Mystery Illness,⁴ Dr. Suzanne O’Sullivan presents fascinating descriptions of FSS as manifested by non-epileptic seizures and other neurological syndromes.The prevalence of medically unexplained symptoms (MUS) in outpatient settings varies between 25 and 50% (depending on the specialty studied) and is present in 20-30% of patients experiencing chronic and disabling symptoms.⁶  While studied in primary care, neurology, cardiology, gastroenterology and rheumatology, a PubMed review found no articles addressing medically unexplained symptoms in any top-tier dermatology journal when I first became interested in this topic.  Today, the pertinent dermatological literature contains only four citations (two by this author).^7.8.9.10

My interest in FDS led me to survey 200 consecutive patients in my practice. Twenty percent had some form of FDS: a rate congruent with the estimated prevalence of FSS in other specialties.¹¹  As with other FSS, it appears that FDS are more common than we might suspect.  I believe that all dermatologists see such patients with regularity; yet we do not have heuristics that help us to identify them.

While the term medically unexplained dermatological symptoms is a useful concept for clinicians to categorize patients with poorly understood cutaneous symptoms; the designation “medically unexplained” can be off-putting, even, offensive, to many patients.  Neurologists have found the term functional neurological symptoms to be more acceptable than medically unexplained neurological symptoms.¹² This led the British dermatologist Stephanie Ball to suggest that these patients be referred to as experiencing  functional symptoms in dermatology.⁷  Table 1 is a provisional list of common and rare functional complaints dermatology patients may present with.

An important caveat:  Making the diagnosis of FDS is a weighty responsibility.  It should not be a shortcut to dismissing the possibility of an obscure underlying medical diagnosis.  In her book, “Between Two Kingdoms,” Suleika Jaouad describes a “maddening itch” that bedeviled her shortly after she graduated from college.¹³ For six months, many doctors’ visits were inconclusive.  Finally, she was diagnosed with acute leukemia.  Her pruritus was the prodrome of a life-threatening hematological disease.

Some baffling symptoms, like Suleika’s, may be explained by a more thorough workup than we had time to pursue on a given day. A patient’s obscure pruritus, pain or excoriations may be a clue to discoverable pathology or they may be functional symptoms.

How much do we know about the patient’s social circumstances, about the life struggles she faced, about adverse childhood or adult experiences, about what gives him meaning or pain in his life?  This deeper knowledge may help to explain how one is sick or how one is well.  Yet even after a thorough evaluation, perhaps 20% of our dermatological patients’ concerns will remain inexplicable and they should be accepted as, for the present, unexplained. Follow-up visits will help us to not ignore organic causes and also provide the opportunity to build a therapeutic relationship.

There is a basic problem with accepting dermatological symptoms as functional. As physicians have been trained to think first of the physical diagnosis.  We base our diagnoses on objective, measurable signs: a tumor, a plaque, positive lab tests, and are not comfortable when all the patient offers are symptoms. We consider somatic disease to be more serious and dangerous than functional illness; that more harm can be done by missing a physical illness than a functional one. This is a dangerous belief. In some cases a physical disease does represent a more serious threat to a patient’s well-being; but in others, unexplained symptoms may pose the greater danger.¹⁴  Patients, too, have been programmed to rank demonstrable anatomical changes higher than those that are inexplicable. These functional symptoms are considered by patients and their caregivers to be the dregs that are left over after everything else has been drawn off.

This is not a new concept.  In 1922, Frances Weld Peabody wrote: “The failure to recognize the influence of emotional causes on the production of symptoms referable to remote organs leads to a therapy directed to the organ itself and this in turn perpetuates the symptoms.”¹⁵   Our professional forefathers knew this, but as specialists we focus narrowly on organic disease and neglect a significant subset of patients who also needs our care and attention.  
It is time for dermatologists to join our colleagues in neurology (non-epileptic seizures),³ gastroenterology (irritable bowel syndrome),¹⁶ rheumatology (fibromyalgia),¹⁷ cardiology (non-cardiac chest pain)¹⁸ and primary care¹⁹ and accept, study and provide treatment for our patients with functional  dermatological symptoms.  The top-tier dermatology journals have been curiously silent on this subject.  Herein, we have introduced this topic and hope that our specialty journals will be a source of continuing education about illnesses that upwards of 20% of our patients present with. The Appendix contains a worksheet that can help when confronted with such baffling patients.

References

1. Kleinman A. The Illness Narratives: Suffering, Healing and the Human Condition. New York, NY. Basic Books; 1988
2. Engel GL. The need for a new medical model: a challenge for biomedicine. Science. 1977 Apr 8;196(4286):129-36
3. O’Sullivan S. Is It All In Your Head?
4. O’Sullivan S. The Sleeping Beauties
5. Barsky AJ, Borus JF. Functional Somatic Syndromes. Ann Intern Med 1999 Jun 1;130(11):910-21.
6. Hatcher S, Arroll B. Assessment and management of medically unexplained symptoms. BMJ. 2008 May 17;336(7653):1124-8. .
7. Ball SL, Howes C, Affleck  AG. Functional symptoms in dermatology: Part 1. Clin Exp Dermatol 2020 Jan;45(1):15-19
8. Ball SL C Howes  C, Affleck AG. Functional symptoms in dermatology: Part 2. Clin Exp Dermatol. 2020 Jan;45(1):20-24.
9. Elpern DJ. Medically unexplained dermatologic symptoms: hiding in plain sight? J Eur Acad Dermatol Venereol 2018 Jul;32(7):e265-e266
10.  Elpern DJ. Medically unexplained dermatologic symptoms still a problem  J Eur Acad Dermatol Venereol 2018 Dec;32(12):e449
11. Elpern DJ. MUDS: In Search of Medically Unexplained Dermatological Symptoms. Online J of Community and Patient-Centered Dermatol. Sept. 2017: http://ojcpcd.com/elpern-d-j/muds-in-search-of-medically-unexplained-dermatological-symptoms/
12. Ding  JM, Kanaan  RAA, What should we say to patients with unexplained neurological symptoms? How explanation affects offence. J Psychosom Res. 2016 Dec;91:55-60
13. Joauad S. Between Two Kingdoms.
14. Balint M.  The Doctor, His Patient and The Illness. Churchill Livingston. 1957
15. Peabody FW.  The Patient and the Man.   Presented to the NY Academy of Medicine, November 22, 1922 and found in Paul O.  The Caring Physician:  The Life of Dr. Francis W. Peabody.  The Countway Library of Medicine, Boston. 1991
16. L Kay, T Jørgensen. Redefining abdominal syndromes. Results of a population-based study. Scand J Gastroenterol. 1996 May;31(5):469-75.
17. Walker  EA, Katon WJ, Keegan D, et. al. Predictors of physician frustration in the care of patients with rheumatological complaints.
    Gen Hosp Psychiatry1997 Sep;19(5):315-23.
18. Fox M, Forgacs I. Unexplained (non-cardiac) chest pain.  Clin Med (Lond). Sep-Oct 2006;6(5):445-9
19. Rosendal M, Carlsen AH, Rask MT, Moth G. Symptoms as the main problem in primary care: A cross-sectional study of frequency and characteristics. Scand J Prim Health Care. June, 2015; 33(2): 91–99.

Table
Functional Symptoms and Syndromes  
Dermatology Patients Present With: A Provisional List

iApotemnophilia
Body identity integrity disorder
Brachoradial  pruritus
Chronic Lyme disease
Chronic Mucocutaneous Pain Syndromes
     (Peno/Scrotodynia, Vulvodynia, Burning Mouth Syndrome)
Delusional Parasitosis (Ekbom Disease)
Formications
Gardner Diamond Syndrome
Morgellons Syndrome
Multiple Chemical Sensitivity/complex
Notalgia paresthetica
Neurotic excoriations
Pruritus of Unknown Origin (localized & generalized)
Prurigo nodularis
Reflex sympathetic dystrophy/Regional pain syndrome
Scalp dysaesthesia
Undifferentiated somatoform idiopathic anaphylaxis

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Appendix
Worksheet for Patients with Complex Medical Problems