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Saturday, March 21, 2015

Neurofibromatosis type 1 presenting as a large growth on the buttock


A huge unsightly tumor growing on the back and buttock would be embarrassing for anyone, but doubly so for a teenager. I really feel sorry for the young man described in today's blog post - the victim of a fairly common genetic condition.

Neurofibromatosis type 1, also known as von Recklinghausen's disease, is an autosomal dominant disorder characterized by changes in skin pigmentation and the growth of tumors along nerves in the skin, brain, and other parts of the body. It affects approximately 1 in 3,000 individuals. Neurofibromatosis type 1 is caused by a mutation in the NF1 gene, located on chromosome 17q. The product of this gene - a protein called neurofibromin - acts as a tumor suppressor, which means that it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in the NF1 gene lead to the production of a nonfunctional version of neurofibromin that cannot regulate cell growth and division.

The signs and symptoms of this condition vary widely among affected people. Since early childhood, almost all people with neurofibromatosis type 1 have multiple café-au-lait spots, which are flat darkened patches on the skin. These spots increase in size and number as the individual grows older. Most adults with neurofibromatosis type 1 develop neurofibromas - benign tumors that are usually located on or just under the skin. These tumors may also occur in nerves near the spinal cord or along nerves elsewhere in the body. Some people with neurofibromatosis type 1 develop cancerous tumors that grow along nerves, known as malignant peripheral nerve sheath tumors. People with this condition also have an increased risk of developing other cancers, including brain tumors and leukemia.

Neurofibromas, while benign, can grow to a large size and significantly impair a patient's quality of life, as the following case shows. A 19-year-old Pacific Islander suffered from a large growth involving the back and buttock. The mass, present since birth, had been growing slowly over the past several years. Not surprisingly, the resulting disfigurement was a source of substantial embarrassment for the patient.


 A case of neurofibromatosis type 1: a large growth involving the lower back and buttock.

Physical examination revealed a soft tissue mass of the back that extended from the tenth thoracic vertebra to the inferior gluteal clefts. The growth was hyperpigmented and corrugated. No additional neurofibromas or café-au-lait spots were noted. Neurological examination was normal. CT scan images demonstrated the mass to be confined to the subcutaneous tissues, without extension into the underlying musculature.

The patient underwent a radical resection of the mass down to the paravertebral fascia. The wound was initially managed with negative pressure wound therapy, and once a bed of healthy granulation tissue was created, autogenous skin was harvested from the upper back and grafted to the granulation bed. Two weeks later, excellent graft take was noted and the patient returned home.


The final result after surgery. Images from: Washington et al. (2010)


Source:

Washington EN, Placket TP, Gagliano RA, Kavolius J, Person DA. (2010) Diffuse Plexiform Neurofibroma of the Back: Report of a Case. Hawaii Med J. 69(8): 191–193.

Wednesday, March 11, 2015

Huge abdominal tumor in a 43-year-old man


Solitary fibrous tumors are rare neoplasms that usually affect the pleura. On occasion, they can also occur in extrapleural tissues, such as the peritoneum, pericardium, anus, and paranasal sinuses. The benign form of this tumor is 3 to 4 times more common than the malignant form. The clinical manifestations depend on the size and location of the lesion. The mean age of patients at presentation is 54 years.

Solitary fibrous tumors of the peritoneum are extremely rare. Preoperative diagnosis is difficult, since several other neoplasms can give similar symptoms. A 43-year-old man in Tunisia had the misfortune to suffer from a very large abdominal tumor of this type. He sought medical help because of chronic stomach pain, abdominal fullness, and vomiting episodes, especially after heavy meals. His family and medical history were unremarkable. He had no history of previous abdominal surgery. On physical examination, a hard mass was palpated deeply in the abdomen. It was not tender, and bowel sounds were normal.



CT scan image showing a huge abdominal mass.


Laparotomy was performed and a a huge, encapsulated tumor was found. It was not adherent to the wall of the stomach, liver parenchyma or adjacent structures. The surgeon was able to carefully remove the entire mass without having to resect the intestines. After removal, the tumor was found to measure 40 × 14× 20 cm. Its cut surface showed lobulated white and yellowish-brown areas.

Histologic features were consistent with a benign solitary fibrous tumor of the peritoneum despite the size of the mass. After surgery, the patient recovered with no complications. The story ends on a positive note: no evidence of recurrence or metastasis was observed at the 36-month follow-up.





Huge peritoneal tumor after resection: a 40 × 14× 20 cm mass with lobulated white and yellowish-brown areas. Images from: Bouassida et al. (2012)
 


Source:


Bouassida M, Mighri MM, Becha D, Hamzaoui L, Sassi S, Azzouz MM, Touinsi H, Sassi S. (2012) Huge Abdominal Tumor: Peritoneal Solitary Fibrous Tumor. Gastrointest Cancer Res. 5(5): 179–180.



Sunday, February 22, 2015

Maggot infestation of the penis after circumcision


Maggots make for cool, cringe-inducing posts. There's something about these wriggly creatures that really makes our flesh creep (well, figuratively speaking). As of today, thousands of people have seen my post about an unfortunate Brazilian man's maggot-infested oral cancer wound. Another post, about a poor bedridden boy with cerebral palsy, whose tracheostomy wound became a haven for squirming white nasties, has also garnered a lot of interest. Today, I'm back with yet another little maggot horror story, this time from Narayangonj, Bangladesh.

A 10-year-old boy was circumcised by an itinerant circumciser who used unsterilized equipment and dressing material. A tight bandage was also applied over the wound, causing severe pain. A few days later, when the bandage was removed, the boy's parents noticed maggots coming out from the wound site. 7 days after circumcision, he was taken to hospital, since the wound was obviously festering and infected.

On examination, the penis was grossly swollen and reddened. There was a gap in the skin exposing the shaft. The base was covered with unhealthy-looking granulation tissue. After a little manipulation, maggots started to come out from underneath the skin of the shaft. The skin could not be pulled back. On palpation, it was observed that there were more maggots under the skin extending to the root of the penis. The picture on the right speaks louder than a thousand words.

Obviously, an immediate surgical intervention was the only reasonable decision. Under a penile block, a dorsal slit was made on the penile skin and maggots started to come out in large numbers. There was some necrotic skin and multiple pockets containing maggots, some even extending to the mons pubis which made exploration difficult. Some of these insects were removed using forceps and some were treated with hydrogen peroxide to completely eradicate these pockets. Almost 30 maggots were removed and the wound was covered with an antibiotic dressing. The pain subsided immediately following debridement. A day later, reexploration of the wound was performed and the remaining maggots came out spontaneously. The picture on the right shows the maggots after removal.

The patient was treated with antibiotic dressing and oral antibiotics for 30 days following the operation, until doctors were certain the wound had healed properly. On final exploration of the site, the penile shaft including all three corpora and the glans were found to be healthy. Later, reconstruction (a partial thickness skin graft) was carried out at the plastic surgery department.

While circumcision is common in Bangladesh, infestation of the wound by fly larvae is, thankfully, a rare complication. However, educating circumcisers on the importance of using sterile gloves and sterilized equipment would help make it rarer still. (Interestingly, less complications and other adverse effects occur after circumcision among neonates and infants as compared to older boys, even in similar settings, probably because the procedure is simpler in the younger age group). 


Source:

Hossain MR, Islam KM, Nabi J. (2012) Myiasis as a Rare Complication of Male Circumcision: A Case Report and Review of Literature. Case Rep Surg. 2012: 483431.



Saturday, February 14, 2015

Infective endocarditis from injecting heroin into a leg ulcer


Drug addicts will often go to extreme lengths to obtain a high, completely disregarding their health. Intravenous drug use carries particularly many risks - including AIDS and hepatitis B infection if needles are reused and exchanged among addicts, but also abscesses, phlebitis (inflamed veins), gas gangrene, tetanus or sepsis, all caused by non-sterile injection technique. (If you saw the movie Requiem for a Dream, you may remember that one of the main characters ultimately had to have his arm amputated because of gangrene that developed after he repeatedly injected drugs into an already-inflamed vein.) A slightly less dramatic complication, also caused by dirty needles or injecting contaminated material, is infective endocarditis - inflammation of the inner tissue of the heart (such as its valves). The pathogens that cause it are usually bacteria, but other organisms can also be responsible. Damage to the valves can ultimately lead to heart failure.

The valves of the heart do not receive any dedicated blood supply. As a result, defensive immune mechanisms (such as white blood cells) cannot directly reach the valves via the bloodstream. If bacteria attach to a valve surface, the host's immune system cannot effectively attack them. The lack of blood supply to the valves also has implications for treatment, since drugs also have difficulty reaching the infected valve. Frequently, the infection damages the valves so severely that they must be surgically replaced.


Requiem for a Dream: what happens when you inject heroin with dirty needles


For those who think that Requiem for a Dream is overly drastic: I found a case report in PubMed that distinctly reminded me of Jared Leto's predicament as Harry, the junkie with phlebitis who kept injecting heroin into a seeping wound until his arm had to be amputated. The situation took place in the UK, in West Suffolk to be precise.  A 28-year-old male intravenous drug user was hospitalized with abdominal pain, sepsis (temperature 38.6°C, C-reactive protein 352 mg/l, white cell count 21.6×109/l) and dyspnea (91% oxygen saturation on 15 l/min oxygen). Physical examination revealed an early diastolic murmur, generalised abdominal guarding and a 12×8 cm necrotic leg ulcer . Detailed history revealed the patient was struggling with venous access and had resorted to injecting heroin into his leg ulcer (the latter can be seen below in all its gory glory). It turned out that he had severe infective endocarditis of the aortic valve. The infection had already destroyed his aortic valve cusps resulting in severe aortic regurgitation. Serial blood cultures subsequently revealed group A streptococcus infection for which a prolonged course of intravenous antibiotics was commenced. Three weeks later, the patient underwent open heart surgery to replace his aortic value. The leg ulcer slowly healed over the next few months.



An addict who repeatedly injected heroin into this leg ulcer developed infective endocarditis necessitating heart surgery. Image from: Thakor and Wijenaike (2009)


One thing really bugs me, I must say. I don't know much about the public health system in Great Britain, but I'm surprised that an active heroin addict was approved for open heart surgery. The article says nothing about the patient being treated for his addiction afterwards, e.g. being put on methadone.



Literature:

Thakor AS, Wijenaike N. (2009) Infective endocarditis from injecting heroin into a leg ulcer. BMJ Case Rep. 2009: bcr07.2008.0493.

Wikipedia - Infective endocarditis




Tuesday, February 10, 2015

Giant duodenal ulcers


The duodenum is the first - and shortest - section of the small intestine. During the digestive process, food passes there from the stomach and gets mixed with enzymes secreted by the pancreas. Duodenal ulcers - painful sores in the mucous membrane that lines the duodenal wall - are a fairly common complaint. The cause is usually infection by the insidious bacterium Helicobacter pylori (also responsible for stomach ulcers). And what's worse than a duodenal ulcer? A giant duodenal ulcer (GDU). 

The radiographic appearance of these big lesions was first described in 1931. Because the ulcer crater is so large, it can easily be missed on X-rays - it gets mistaken for a normal or slightly deformed duodenal cap. Today, endoscopy has essentially replaced barium contrast studies for visualization of the upper gastrointestinal tract and there is little difficulty with the diagnosis of these lesions. Giant duodenal ulcers are generally defined simply as a benign, full thickness ulcer at least 2 cm in diameter, usually involving a large portion of the duodenal bulb. While it's unclear why some patients develop standard-sized ulcers and some get the bigger, nastier variety, research suggests that daily use of nonsteroidal anti-inflammatory drugs (NSAIDs) is an important risk factor for GDUs.

The symptoms? This condition is typically quite painful. The pain will usually be located in the stomach area, sometimes radiating towards the right flank and/or towards the back. It is persistent and is not relieved by food or by antacid medications. Most patients show some degree of bleeding, either in the form of hematemesis (vomiting blood), melena (black stools) or hematochezia (passage of fresh red blood through the anus) or any combination of the above. Anemia often appears as a consequence of blood loss. Gastric outlet blockage can also occur, causing nausea and vomiting. Additionally, the inflammatory mass can produce significant constitutional symptoms such as weight loss, cachexia (muscle atrophy and weakness) and malnutrition. This constellation of symptoms can often mislead the clinician to suspect cancer.

Giant duodenal ulcers can cause ugly, potentially fatal complications - massive hemorrhage and/or intestinal perforation. Today, they are usually treated with proton pump inhibitors. Some patients require surgery, which is much less risky now than it used to be 40 or 50 years ago (in early case series, around 40% patients with a GDU did not survive a surgical intervention).

To prevent this condition, it's a good idea to avoid frequent use of NSAIDs, if possible.


Endoscopic photo of a giant duodenal ulcer in a patient taking non-steroidal anti-inflammatory drugs. This ulcer is larger than 2 cm. Image from: Newton et al. 2008


I found a cool 9-minute movie clip on YouTube, posted by DrMurraSaca, showing endoscopy of a giant duodenal ulcer. The bombastic creepy music playing in the first part of the clip is quite hilarious! Around the 5-minute mark, the soundtrack changes and we're shown a parade of endoscopy images of other conditions - gastric ulcers, hourglass stomach, ulcers with huge blood clots and the like.




 

Source:

Newton EB, Versland MR, Sepe TE. (2008) Giant duodenal ulcers. World J Gastroenterol. 14(32): 4995–4999.




Saturday, February 7, 2015

Strange lesions on a newborn's back


Today's case has a bit of a Dr. House vibe. A pre-term newborn girl was being kept under observation at the intensive care unit of a hospital in India. 5 days after birth, multiple red lesions appeared on her skin and spread rapidly over the next two days, covering the neck, back, arms and hands. 


The infant's mother was 23 years old and healthy. She had not suffered from any serious illnesses since childhood. This had been her first pregnancy. At 34 weeks, premature membrane rupture with evidence of fetal distress necessitated an emergency Caesarean section.

Clinical examination of the child 7 days after birth revealed an alert infant weighing 1.98 kg, with good reflexes. Large, ring-shaped, slightly thickened red lesions were clearly visible on her skin. The center of the lesions showed fine, detachable scales without any atrophy. Physicians initially suspected neonatal lupus erythematosus, an autoimmune disease. However, the mother had no history of any such disorder. Laboratory tests of blood and urine were performed, but neither the child nor the mother showed any abnormalities. The mother also tested negative for venereal diseases.


Can you guess what the diagnosis was?



Image from: Palit & Inamadar (2012)


The answer: tinea corporis, more commonly known as ringworm! It turned out that the lesions were caused by a fungal infection. 


The infant was treated with terbinafine hydrochloride cream (1%) applied once daily. After antifungal treatment, the skin lesions improved significantly in 2 weeks and disappeared completely after 4 weeks. 

How can a newborn baby get ringworm just five days after birth? The source turned out to be the child's grandmother, who used to handle the child bare-handed while assisting with breastfeeding. She was found to have a fungal infection of several fingernails, and was advised to try monthly pulse therapy with systemic terbinafine.


Source:

Palit A, Inamadar AC. (2012) Annular, erythematous skin lesions in a neonate. Indian Dermatol Online J. 3(1): 45–47. 



Monday, January 19, 2015

Just a bit of innocent fun: putting lead in your pencil


In my last post, I described the case of a 76-year-old Australian who had inserted a steel dining fork into his penis. The bizarre practice of self-inserting foreign objects into the urethra during masturbation apparently appeals to some people, since an impressive variety of foreign objects gets stuck in urethras and bladders worldwide. A fairly strange case of this sort happened in London: a 62-year-old man was referred to the hospital from a nursing home by staff concerned that he had apparently passed a small household (AAA size) battery while urinating. The patient was in pain with difficulty in passing urine. Relevant in his past medical history was that one year previously a pen lid had been endoscopically removed from his bulbar urethra. He also had right-sided hemiplegia following a cerebrovascular accident 10 years earlier.

An X-ray of the patient's pelvis revealed what appeared to be two dense foreign bodies in his urethra:




Urethroscopy showed two AAA size household batteries lodged there. The surrounding mucosa was very inflamed with areas of necrosis and a rusty appearance suggesting that these batteries had been lodged within his body for a significant period of time. They were successfully removed using an endoscope with grasping forceps. Cystoscopy revealed inflamed-looking bladder mucosa that suggested recurrent urinary tract infections.

Here's an endoscopic view of the batteries, just before removal:

 Images from: Bedi et al. (2010)


The patient was catheterized postoperatively and discharged 48 hours later on a two-week course of broad spectrum antibiotics. On further questioning at discharge, he admitted to inserting three AAA sized batteries into his urethra for sexual gratification during masturbation four weeks earlier. Talk about having fun in a nursing home.


Source:

Bedi N, El-Husseiny T, Buchholz N, Masood J. (2010) ‘Putting lead in your pencil’: self-insertion of an unusual urethral foreign body for sexual gratification. JRSM Short Rep. 1(2): 18.