Sometimes despair over a skin disease that fails to yield to treatment can lead to suicide. We have seen that tragedy twice – once in a young man with hair loss and the other in a boy with acne. And it almost happened with this patient. For five long years, a twenty-seven-year-old woman had suffered an extremely severe itch associated with small water blisters on her arms, legs and trunk. They came in groups in arciform configuration. Many of the soft tops had been scratched off, leaving areas of redness, crusting, and scars where she had dug the skin away to relieve her itch. The skin was both hyperpigmented and depigmented.

She stated that it all began a week after the birth of her second child. She was told it was due to sunlight sensitivity, and, indeed, it slowly faded as she dutifully avoided the sun. Two years later it recurred explosively after the birth of her third child and then had remained unchecked for the past three years. She has wandered from doctor to doctor, who have wandered from diagnosis to diagnosis, and from treatment to treatment. She has had numerous biopsies and as many diagnoses. Steroids, antibiotics, antihistaminics, and sedatives were all of no avail. She was told it was due to nerves, that it was due to an allergy to gluten in wheat, and that it was a virus infection. AIDS had not made its entrance or it, too, would have been considered.

“Look at my legs” said a thirty-nine-year-old woman. We looked and in a split second knew the diagnosis. It was one of the augenblick diagnoses a dermatologist makes in 1/25 of a second when a recognizable pattern of skin disease is present. For these diagnoses, it is better to pass by a dermatologist in the hall than spend hours in a general physicians office or have a sheath of laboratory reports. Specialism has its place. A specialist does not have to re-invent the disease.

Yes, she had essential progressive telangiectasia, made up of innumerable tiny dilated blood vessels extending up her legs. We do not know the cause, but have seen them cover the entire body, becoming generalized. No, the mystery here was not the diagnosis, but why did she have it, and what could we do about it?

First, as always, there is the history. Seven years before she first noted a red patch of small dilated blood vessels over her right foot. It seemed innocent enough, perhaps due to a tight fitting shoe. But soon it appeared on the other foot, also due to a tight shoe? Then she became alarmed as this fiery red eruption began to climb up her legs. True, it was not painful, itchy, or bleeding, and there were no black and blue marks. No one else in the family had anything like it.

The dilated (telangiectatic) vessels had reached her thighs by the time she reached our office.

“My skin is becoming stiff,” recounted a forty-three-year-old woman. For the past few months she had noted a woody firmness of the skin on her thighs and there were red patches on her shins which also felt stiff. Her face, hands, and feet were normal. She had always been in good health and blood studies showed only a mild increase in her eosinophilic white cells.

Clinically, we felt she had the hardened skin patches of morphea, the localized form of scleroderma. We attempted to ferret out a cause, with no luck. She was taking no medications. There had been no tick bites or even a leech bite, which had caused morphea in one of our patients. She denied infections or exposure to organic chemicals, such as polyvinyl chloride, known to harden the skin. She also did not take the drug, methysergide, notorious for its ability to indurate connective tissue. She had never had silicone breast implants, which might leak and induce sclerotic skin.

We tried both cortisone and antibiotic therapy without success, as well as topical emollients which were likewise without effect. We were still searching for a cause when the patient came in with the answer and with an apology. She had found the reason in the newspaper, learning that the FDA had banned the sale of the amino acid, tryptophan. This over-the-counter compound used by thousands to combat insomnia and depression was now linked to hundreds of cases of hardening of the skin.

The mother gave the history that for three years now her teenage daughter had been developing a purplish discoloration of her chin approximately three to five times a year. But now, the episodes were occurring with increasing frequency. The purple chin had appeared just prior to her last three menses. The attacks always came during school hours, and the color gradually faded during the following week. The skin always returned completely to normal.

We turned to the girl. What could she tell us? She described her chin as suddenly turning purple and becoming tender and painful. Her lips became swollen at the same time. Later, her chin was itchy. Steroid therapy, both orally and locally, had given no help. The attacks continued to come.

The daughter was a healthy thirteen year old. All of her blood tests were normal, and when we examined her nothing could be seen on the chin. We asked her to return during her next attack. Three weeks later, just before her menses, her chin suddenly became purple. We saw her five hours later, noting her chin to be diffusely discolored with a light purple color along with some dilated small blood vessels.

The premenstrual flare led us to believe she had a sensitivity to her own female hormones. We knew that progesterone, made by the ovary, reached its highest blood levels just before the menses.

“See my worm,” begged a twenty-nine-year-old man. We were the fifth dermatologist that week he had consulted in his frantic search for medical help. All of the others had referred him to psychiatrists, but he knew that was wrong and he was going to prove it to me. He knew he had been infected by a worm from outer space, and was desperate for a cure, but no one would believe him.

As he unrolled the gauze from his left wrist we did indeed see “the worm.” It was there in the skin at the flexure of his wrist, neatly surgically exposed. It was long, narrow, white, glistening and warm, recognizable as a tendon!

We marveled and he went on to explain that he had felt the worm moving in his skin. He quickly described how he had gone to the local surgical supply house yesterday and purchased a scalpel, forceps, and probes. At 5:00 a.m. that morning he had operated, skillfully avoiding the major arteries and veins of his wrist. Now he had proof, and, fortunately, our office staff had given him an emergency appointment.

As we listened to the story, told by this man with piercing eyes, we realized he was a special type of orphan patient. He was not orphaned by physician indifference, physician ignorance, or physician disbelief. He had been orphaned by his own noncompliance. But, why should he see a psychiatrist? Did these doctors … did we … think he was crazy?

A seventy-year-old woman was supposed to see us on a Thursday afternoon. She was coming a great distance from a nursing home and our staff had been told she had had a rash over her entire body for the two years she had been in that home. They felt it was a drug eruption and hoped we could help.

The patient failed to show for her appointment, but the following Monday morning we were called to see her in the hospital. She had been brought by ambulance four days before for emergency surgery in the middle of the night, engendered by a blood clot in her left leg.

On examination we saw a woman clawing her inflamed red scaly skin, complaining of a terrible itch: “I've had it for years. Do something!” Between her fingers we saw tiny blisters, and on her fingers there were several thread-like burrows. She had scabies, the highly contagious “seven year itch.” We proved it by finding the Acarus scabiei itch mite on scrapings. Yes, we found out that she did not have a drug rash, but scabies. And as soon as we learned it, so did the ambulance driver and his two assistants, six nurses in the emergency room, and another nine floor nurses, as well as the vascular surgeon and three of his operating room nurses. All twenty-two were now itching, because they caught scabies from their contact with her.

“My hair is falling out” was the complaint of a forty-five-year-old woman. This is always a difficult challenge for us. First, is the loss real or imagined? There are at least 100,000 hairs on the scalp, and with aging we lose them insidiously. And in the case of women with bouffant coiffuring, 80,000 of these can be lost before the thinning is obvious to anyone but the patient. We have no instrumentation to accurately count the hairs. Assessment is therefore crude, unlike the precision we achieve in counting the invisible red cells in a drop of blood. The number of hairs on sample areas of skin can be counted, but is so painstaking a process as to be impractical, except in a research study of the modern hair growth stimulants, Rogaine® (minoxidil) and Propecia® (finasteride). She could and did count the hairs combed out each day. These far exceeded the normal average daily hair loss of 75 to 100.

We concluded that this patient's hair loss was real. Now came the search for why. The hair was not breaking off, nor did it have loose roots. Her root strength was good when we tugged on her hair. Under the microscope her hair appeared normal. Was it simply aging? Every single one of us no longer has the hair count of our youth. However, that hair loss is gradual and inapparent, whereas this woman knew that her hair had been thinning for only the past few months.

“What is this thing that moves up and down my arm?” asked a seventy-six-year-old retiree. He demonstrated a little lump under the skin of his left forearm. He moved it first down near his wrist and then way back up his arm. It could travel about 8 inches, just like an abacus bead. He told us he had played with it for about six months. It was a painless firm lump, about a half inch in diameter. There was no sign of inflammation. His health was excellent.

We were totally intrigued, having never seen a mobile tumor. We felt that it must be a foreign object, but he denied any history of bullet or shrapnel wounds. He had no knowledge of glass having penetrated his skin. We thought of a patient of ours from whom we extracted a six inch plant stem from her foot. She had been hiking in Scotland in open sandals and had no knowledge of how the stem had gotten into her skin. Surely, this man's tumor must be an inert foreign mass. Or could it be a parasitic larva that had died in the skin and become enclosed in a fibrous movable caul? Could it be a strange rheumatoid nodule? He did have arthritis of his left wrist.

We knew this mystery would be easy to solve. There was no need for a dazzling differential diagnostic list of twenty diseases. It was a vignette á clef where biopsy was the key.

It seemed simple enough at first. He was a forty-year-old minister who came to us suffering from hives for the past five years. A glance at his palms and then his soles showed them to be dry and scaling. “Yes, my hands have been dry for nearly twenty years and my feet for even ten years longer.” Our assumption that this was a fungal infection was confirmed by microscopic examination of the scales. It all seemed so simple. Obviously, he had become allergic to these fungi and developed hives whenever the dead fungal elements entered his blood. All we had to do was treat his hands and feet and the hives would go away. Well, griseofulvin did completely cure his decades of scaly palms and soles, but the hives paid no attention. They kept right on coming.

We then found he had developed hives when given penicillin, and thought perhaps this tied in with penicillin coming from a mold similar to the fungus on his hands and feet, which might also have produced a penicillin-like product. But his fungus infection was gone, and he took no penicillin. His case was becoming complex. He had seen an allergist who, by scratch testing, showed he was allergic to eight different foods. However, a strict elimination diet for two months did not help.

Rounding up the usual suspects for hives was to no avail. He took no drugs. His dental, sinus and chest films were normal. But back to his skin tests.

A fifty-two-year-old housewife knew her diagnosis. It was erythema multiforme. But “why,” she asked, “does it keep coming back?” It all started seven years ago when she was vacationing on an island off the coast of Mexico. She had numerous blisters, diagnosed as a reaction to insect bites. They slowly faded over the next month, only to reappear six months later, when her mouth also became ulcerated. This time it took two months for healing. A third attack was attributed to eating too much chocolate. Subsequent attacks were erratic, but in the last year there had been six distinct episodes.

Her close observation of these attacks taught her that each one was preceded by a cold sore on her lip, face, or nose. Invariably, seven to ten days later she would see her skin covered with small and large blisters. They were strangely floral in their patterns, with rings of purple giving them a target or iris look. Dermatologists had made the diagnosis of erythema multiforme, of the blistering (bullous) form.

But the diagnosis did not tell her, or any of her doctors, about the cause of her blisters, or suggest how she could avoid these disabling attacks. Erythema multiforme was only a name, used to describe the way the skin reacts to at least seventy different causes. What she had was a reaction pattern, but to what was she reacting? Could it be a drug? No, she had no common thread of any particular medication before each attack.

“I can't stand the sun. It burns me,” was a seventy-eight-year-old man's complaint. We thought this would be just another case of photosensitivity due to medicine he was taking. But, that is not how it turned out.

For many years he had completely avoided sunlight, because even being in the sun for a few minutes made his exposed skin itch and burn and turn bright red. It was no ordinary sunburn, which takes hours to develop, but was virtually immediate. By going indoors the reaction would pass in about an hour, leaving no trace. He had never been outdoors long enough to know how severe a burn he might develop.

His history disclosed that he had had an adenocarcinoma of the colon excised two years ago. Otherwise, he had always been in good health. He had no known allergies nor did he smoke, drink, or take a single medication. His family history was noncontributory. His contactants included Dial Soap, shaving cream, after-shave lotion, baby shampoo, and a hair colorant.

He had found sunscreens and antihistaminics of no help. Physicians had tried a number of prescriptions without success.

On examination his skin was normal, but when we sent him outdoors for ten minutes of exposure to the February sunlight, he returned with extremely red skin over his hands, face, neck, and scalp, which burned and itched severely. He remained in our office for the afternoon while his symptoms and the redness abated.

“I've had this sore on my chin for twelve years. It never heals. Can you help?” asked a fifty-four-year-old man. Ordinarily, a sore that does not heal is a skin cancer. But, three skin biopsies taken of the sore never showed any evidence of cancer. Nor was there any evidence of a draining sinus from an infected tooth. In fact, he had had excellent dental care with annual x-rays of his teeth, all totally normal.

Here was a man in excellent health with a sore that waxed and waned, but never completely healed. We secured a fourth skin biopsy and did bacterial and fungal cultures. Again, there was no cancer or other definable skin disease, such as scarring lupus erythematosus. There were also no pathogenic bacteria present or any evidence of the actinomycetes which cause the chronic ulceration of actinomycosis. X-ray of the jaw showed no osteomyelitis or other bone change. Again, the biopsy showed only nonspecific inflammatory changes.

The sore was never itchy, but our patient readily admitted to picking at the spot, trying to remove the crusts and debris. Sometimes, he felt that underlying ingrown hairs were responsible. We wondered if his constant picking of the chin could be a compulsive tic. This proved not to be the case, as psychotropic drugs had no effect.

At the time of his first visit, the sore was an open ulcer about a quarter of an inch in diameter.

“Why do I have these brown spots?” was the query of a thirty-seven-year-old woman. She didn't seem too hopeful of getting an answer. She had made innumerable visits to her family doctor and to emergency rooms over the past three years. No one knew why she had had that large brown area over her left hip all that time. And another big brown patch had appeared on her right knee just one year ago.

We asked, “but why the emergency room visits?” “Oh, every four to five months those brown spots get swollen, terribly red, and hurt bad.” We then knew what it was – a fixed drug eruption. Every one of her alarming attacks over the past three years had to have been preceded by her taking the same troublemaker drug.

What drug was it? In most patients the search can be lengthy. There is no blood test. An oral challenge is necessary, although in a few patients simply applying the crushed pill or liquid medicine over the brown spot will set off a local red reaction, thus identifying the cause. In most instances the best detective work is done by the patient, once informed and on the outlook for what she or he has taken the day before the “fire” comes into the brown spots. The patient must realize that in some instances the red flare-up is slight, totally obscured by the residual brown pigment from past attacks.

“It's her hair,” the mother said as she brought in her fourteen-year-old daughter. What we saw were two stripes of bald skin running across the girl's scalp. Present for two years, they crossed forming a perfect crucifix pattern. It looked as if one had run a hair clipper from the forehead posteriorly to the nape of the neck, and then clipped a 3/4 inch band transversely to form a precise cross. The margins were straight as an arrow, so geometric that we realized it was nothing nature could produce. It had to be the patient.

She was pulling her hair out. It was not the total loss of alopecia areata with its round patterns of totally bald skin. A pluck test showed that her hairs had excellent root strength, and a twist test proved the hairs were not fragile and could not be broken easily. The very short stubble present in the bare areas suggested to us that she would pull the hairs out as soon as they were long enough to grasp with her fingers. Her skin was perfectly normal, and the other doctors she had seen for this problem had found her to be in excellent health on physical and laboratory examinations.

We made the diagnosis of trichotillomania, i.e., hair loss due to the patient pulling out her own hair. It was a nonverbal cry for help. We usually see it in children brought in with the complaint of thinning hair.

The chief complaint of a thirty-five-year-old man was that he was “in chains.” Indeed, he had been brought in handcuffs and ankle chains to our clinic from the local jail. The officer's key freed the man's arm so the blue prison shirt could be slipped down to reveal the problem. There we saw on the outer side of his right arm a band of tense blisters, extending all the way from his shoulder to his hand. We deferred examining the rest of his skin in deference to the two anxious police officers.

This happened during the first month of a three year residency program when our diagnostic horizon was limited to what we had seen in the medical school clinics. However, we were proud of this, because each week of our senior year our professor of dermatology had demonstrated thirty patients, which our class could then examine at close range for the hour after the lecture. On graduating we knew more about diseases of the skin than any other organ.

We knew that the most common cause of the big blisters this man exhibited would be poison ivy dermatitis or sunburn. But the prison cell admitted very little sunlight and he could not have come in contact with poison ivy in the last few days. Could it be self-induced? Or, could it be a drug allergy? There was no evidence of a chemical or thermal burn and he had no access to drugs.

But surely, the location told us something.

“My old skin ain't what it used to be. It slides off whenever I bump or scratch it,” was the complaint of an eighty-year-old man. He had the problem for several months, particularly on his forehead where we saw a few small and large tense blisters. One long linear band of redness on the left side of the forehead was the site of a long scratch mark. He also reported isolated blisters on his back, forearms, and lower legs. The blisters appeared overnight or could be produced by scratching a spot. They did not itch and the eroded spots took as long as two weeks to heal. Redness in the area lasted even longer.

The patient was in good health. He had never had skin disease and was not even sensitive to poison ivy. We could rule out diabetes and kidney or liver disease, all known causes of blistering in the skin. He took no medications, so that drug allergy could not be the cause. Sunlight damage was minimal. Nor was it of viral origin typically presenting as blisters with depressed (umbilicated) centers. It was not the acute painful blistering of shingles. The blisters associated with cancer (paraneoplastic bullous disease) were also not likely, usually being much more dramatic in their presentation.

We could have called it “fragile old skin,” but it proved to be a polysyllabic tongue twister, epidermolysis bullosa acquisita.

Some time ago a patient came to us complaining of bright red palms. Her problem occurred only in the summer and faded each autumn. She had seen several physicians who could not explain her mysterious complaint. Her health was good, and tests for a liver or endocrine disorder were negative.

When we asked her what she thought was the cause of her red palms, the reply was, “I won't tell you because you will laugh at me, like the other doctors did.” After convincing her we viewed her as our best detective, she finally said, “Watermelons.”

Up until her visit to us she had been so ridiculed that she never put her theory to test. She felt that she must have an esoteric disease, which only a physician could fathom.

We simply had her stop eating watermelons and the rash promptly faded, even as it had in the last three autumns. A challenge was followed by a prompt reappearance of the redness.

Moral

1. Doctors – Believe what your patient tells you.

2. Patients – Trust your observations.

This is a case book of detective stories about patients who came to us with puzzling problems with their skin. Our practice has always specialized in helping the orphan patient. We mother over the patients with the rarest diseases. We welcome the patient who falls outside the family of ordinary patients with ordinary disease. We devote time and thought to the patient whose problem cannot be solved in ordinary office visits.

“My feet hurt,” said a twenty-year-old college student. We wondered, could he be in the wrong office? Shouldn't he be seeing an orthopedic surgeon, podiatrist, or rheumatologist? But no, since these other physicians had shunted him off, he came to see us as an orphan patient.

As he was lying disrobed on the examining table, we saw only perfectly normal skin on his feet, as well as elsewhere. At least we could tell him he had no suspicious-looking moles or melanoma. But, we listened to his story. He had never had any problem with his feet until this summer when he went to work as a railroad trackman. He wore comfortable proper-fitted shoes, yet within a week of starting work his feet had become painful. He had continued to work until he saw us.

The feet seemed normal. They had never been injured. There were no tender spots. Motion was normal, both passive and active. Complete vascular assessment was unrewarding. We contemplated getting x-ray views of his feet to check for the presence of bone spurs. We also heard him say repeatedly, “It only hurts when I stand for a long time.” Could this be a paresthesia from pressure on the sciatic nerves? The answer came when we asked him to get off the table and stand up. Immediately on standing, firm bumps appeared on the medial aspect of both heels.

“I itch and I know it's my work.” But what caused his work itch? A twenty-one-year-old man showed us a very itchy red rash on his forearms, lower legs, and eyelids. It had started twelve days before, within hours after returning from vacation to his job in a wholesale florist supply shop. The rash had become worse every day and was now so severe that he had missed work for the past six days.

He had worked in this shop for six years, with only one previous attack of dermatitis, four months ago. No cause had been found for the rash, and it had responded to steroid injections from his family doctor. The patient was in good health, but had known sensitivities to poison ivy and bee stings.

Originally, he had had small blisters, but now only scratch marks remained on his inflamed skin. We suspected an occupational dermatitis, because he had not been exposed to poison ivy on his vacation. He remained off work for four more days. Back at work he was fine the first day, but the next day the itch became worse and was especially severe in the finger webs.

We saw him a week later, when our scrapings of the fingerwebs ruled out scabies. He denied all exposure to solvents, harsh soaps, fiberglass, and epoxy resins, but did have to handle a wide variety of plants at work.