My second installment of unusual and weird diseases that plastic surgeons occasionally see.

Necrotzing Fasciitis

Necrotizing fasciitis, commonly portrayed and spoken of in the media as a flesh-eating disease or flesh-eating bacteria, is actually not that uncommon and is not a medical disease that is new. It is an infection of the deeper layer of the subcutaneous tissues below the skin which easily spreads along the fascial covering of the muscles. While it is more likely to occur in diabetic and immunocompromised patients, I have seen it develop in otherwise healthy patients with no such medical problems. I have seen and taken care of dozens of these cases over the years but my most memorable was the healthy 30 year-old female who developed it after just a skin scratch. Within days, she required extensive debridement to control the infection and ended up losing all her skin and fat from her armpit down to her waist. It is a disease at times that can be hard to understand why in some cases.

Rhinophyma

Many have probably seen this nasal problem but didn’t know what it was. This nose deformity appears as a large, bulbous, ruddy appearance of the nose. It often progresses to such thickening of the skin that lumps and bumps appear like cauliflowers, particularly in the nasal tip area. I have seen rhinophymas so large that it appears as a second nose on top of the orignal one.  The name is derived from the Greek word rhis (’nose’) and phyma (’growth’). It is caused by a chronic infection of the oil glands often due to untreated rosacea. It appears nowhere else on the face. Contrary to popular belief, it is not due to alcoholism. Treatment is rather barbaric but very effective. The skin is pared down with a loop cautery, shaving it down like carving out a nose from a bar of soap.

Marble Bone Disease (Osteopetrosis)

In this unusual congenital disease, one’s bones become extremely dense, hard, and brittle. It often affects the bones of the skull and face which is the cases that I have seen. Also known as osteopetrosis, the bones become so dense that marrow cavities no longer exist. The bones continue to thicken and grow so that eventually the cranial nerves become compressed by the narrowing of their passageways as bone is deposited in the skull. This results in loss of vision for example as the optic nerve gets slowly pinched off. The bone is so dense that if it develops a wound, it will not heal as it has no blood supply. Teeth extractions are a common source of chronic non-healing wounds in these patients….and there is no good treatment for them.

Duputryen’s Contracture (Disease)

This hand ailment is unusual as it has no known reason as to why it develops but is largely restricted to men of northern European and Scandinavian descent. This slowly develops into a fixed tendon contracture where the fingers bend towards the palm and cannot be fully extended (straightened). Most commonly the ring and little fingers are most commonly affected but almost never the thumb or index finger. Why these fingers and not the others is unknown. Dupuytren’s contracture progresses slowly and is usually painless as the involved fingers bend backward and become stiff. It is known that the palmar aponeurosis tissues thicken and become a contracting band…but why? While I was trained in hand surgery (but do not practice it), a series of geometric zig zag skin incisions are made and the bands are released. While the operation is eloquent, the recurrence rates are high. It is my understanding that an injectable drug is in clinical trials for treatment. Even if only moderately effective, that is usually preferable to surgery.

Ehlers-Danlos Syndrome

This genetic disorder is manifest by skin that can really stretch, like a rubber band. There is a defect in a certain type of collagen (the ‘glue’ of our skin) that makes the skin fragile, the joints loose (they can bend backwards), and easy bruising. As a result, those affected are prone to developing really loose neck and jowl skin as they age. I have treated two such patients who underwent facelift surgery. The skin could really be pulled back up and over the ears before trimming. Unfortunately, as easily as the skin is pulled back, it is prone to early relapse showing little results after only a short period of time.

Dr. Barry Eppley

http://www.eppleyplasticsurgery.com

http://www.ologyspa.com

Clarian North Medical Center, Carmel, Indiana

Clarian West Medical Center, Avon, Indiana

Indianapolis

Plastic surgery, because of its scope of treatment possibilities from head to toe, undoubtably sees the greatest number of strange and weird disease conditions that require surgical care. In my Indianapolis plastic surgery practice over the years, I have come across a fair number of them. When recently asked by a patient as to what is the weirdest thing I have seen as a ‘plastic surgery doctor’, I stated that I could not cite just one. Instead, I thought I would commit the list to print.

Progeria

This ‘old child’ disease is caused by a very rare genetic defect that causes one to age at a highly accelerated rate. It is much like the reverse of the Benjamin Button movie. Most of these patients will be dead by their early teen years and will look ancient. These children quickly become bald, thin, and develop early osteoporosis and heart disease. Their heads appear enlarged, which is more exaggerated by the need to wear glasses, compared to their small frail bodies. They are prone to teeth and jaw problems. A local dentist removed a tooth and unexpectedly fractured the lower jaw. Fixing of the fracture was needed with plates and screws.

Moebius Syndrome

Children born with this rare disease have cranial nerve defects, particularly that of the  facial nerve. They have complete facial paralysis which does not permit them to have any facial expressions. No matter what they are feeling, their face remains frozen and expression free. They can not blink or close their eyes at night. Some facial expression can be restored through vascularized gracilis muscle flaps placed between the cheek and upper lip, plugging the muscle into the fifth cranial nerve for innervations. Eventually the patient learns to smile by clenching their teeth.

Werewolf Syndrome

Patients with this very descriptive condition have their face covered in hair. The patient that I have treated had 2/3s of his face covered with a giant congential hairy nevus and he did look exactly like a wolfman.  There was no transition between his scalp and his face with one confluent layer of thick dark hair. Through tissue expanders and full-thickness skin grafts, I was able to restore much of his face to non-hair bearing skin…albeit with the tradeoff of scars and a patchwork of quilted skin grafts.

Munchausen’s Syndrome

In this very well known, albeit fairly rare, psychiatric disorder, the person creates actual medical problems in themselves to gain treatment and the attention and comfort from medical personnel. In many cases, these patients are highly knowledgeable about medicine and are able to produce symptoms that result in multiple unnecessary operations. I can speak to this problem in great detail as I have had the misfortune of treating two of them. The first one, with recurring oro-antral fistulas and non-healing face and jaw wounds underwent over thirty operations by me before I can to the realization that every surgical technique that I knew could not possibly fail in an otherwise healthy person with normal well-vascularized tissues. I was much wiser the second time around.

Poland’s Syndrome

Poland’s syndrome or sequence is a rare birth defect of the trunk seen for breast reconstruction which is not hard to miss. Characterized by an underdevelopment or absence of the chest muscle on one side of the body, webbing across the armpit, a shorter arm and sometimes webbing of the fingers, the breast on that side is also small and may even be completely absent. As unusual as this developmental defect is, it is not that rare in the plastic surgery world. Breast reconstruction, usually using an implant, helps lessen the dramatic differences between the two sides. The upper arm may be slightly restricted when raising it high due to the web across the armpit. In the three cases that I have treated, web release was only needed in one.

 Dr. Barry Eppley

http://www.eppleyplasticsurgery.com

http://www.ologyspa.com

Clarian North Medical Center, Carmel, Indiana

Clarian West Medical Center, Avon, Indiana

Indianapolis