Pages

Wednesday, November 19, 2014

Syndactyly in Apert syndrome - pictures


Still too busy to spend lots of time blogging... So, today I'll just post a couple of photos of a fairly well-known medical condition, often (but not always) associated with a specific genetic disorder.

Syndactyly is a condition where two or more digits (fingers, toes or both) are fused together. While not as crippling as lacking a limb or part of a limb, it impairs mobility and function to some extent.

Syndactyly can be simple or complex.
  • In simple syndactyly, adjacent fingers or toes are joined by soft tissue.
  • In complex syndactyly, the bones of adjacent digits are fused.
Syndactyly can also be complete or incomplete.
  • In complete syndactyly, the skin is joined all the way to the tip of the finger
  • In incomplete syndactyly, the skin is only joined part of the distance to the fingertip
Complex syndactyly is a feature of certain genetic syndromes, including Apert syndrome - a condition characterized by  several abnormalities, such as craniofacial hypoplasia (underdeveloped bones of the skull and face), craniosynosthosis (premature fusion of the sutures of the skull) and syndactyly of the hands and feet. Today, the fused digits can be separated surgically.

And here are the pictures:


Above, you can see the fused fingers on the hand of a 27-month-old girl with Apert syndrome. The child also displayed other characteristic features of this disorder, including facial hypoplasia, mild exophthalmus (bulging eyes) and mental retardation. Her fingers were separated surgically using an abdominal skin graft.

And another one, showing the fused digits on a child's hands and feet:

 Image from: Agochukwu et al. 2012


On the X-rays, you can clearly see that the bones are fused, not just the soft tissues. I've always been mildly fascinated by the odd appearance of these limbs.

And a third photo. These hands and feet belong to a 1-year-old girl with Apert syndrome.



Literature:

Agochukwu NB, Solomon BD, Muenke M. (2012) Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses. Childs Nerv Syst. 28(9): 14471463.
 
Metodiev Y, Gavrilova N, Katzarov A. (2011) Anesthetic management of a child with Apert syndrome. Saudi J Anaesth. 5(1): 87–89. 

Derderian C, Seaward J. (2012) Syndromic Craniosynostosis. Semin Plast Surg. 26(2): 64-75.

Wikipedia - Syndactyly


 


Friday, November 7, 2014

Giant condyloma acuminatum of the anal region


I have lots of work to do right now and I can't really afford to spend time blogging, so today, I'll just post an extremely nasty picture with a short comment. The picture comes from an article published in the Pan African Medical Journal in 2014 and  looks like this:





Believe it or not - the photo marked (D) shows a large tumor in the perianal area of the patient, a 52-year-old man suffering from giant condyloma acuminatum. This is a large, slow-growing, exophytic, cauliflower-like tumor occurring in the anogenital region. It's benign, but prone to malignant transformation. The cause? Human papilloma virus infection.

This particular tumor was around 17 centimeters long - a big, red, smelly mass which had been growing slowly for several years. The tumor bled easily, and I can't imagine how the patient was able to defecate. Pelvic MRI revealed that the growth extended to the anal canal and to pelvic-rectal fat (A, B, C). Surgeons managed to remove almost the entire mass, sparing the anal sphincter. (E) shows the patient's anal region after resection. (A white Foley catheter is inserted into the anal orifice.)

Human papillomaviruses are typically spread through sexual contact. So, if you have unprotected anal sex with the wrong person, you could potentially end up like this poor guy. Consider yourself warned.



Source:


Oussaid M, Hassani KI. (2014) Huge Buschk Loewenstein tumor: report of a historical case. [ Article in French] Pan Afr Med J. 18:38. doi: 10.11604/pamj.2014.18.38.3723. eCollection 2014.


Monday, October 27, 2014

Pyogenic granulomas of the vulva (yuck)



Pyogenic granuloma (also known as an "eruptive hemangioma", "granulation tissue-type hemangioma", "lobular capillary hemangioma" or "pregnancy tumor") is a type of lesion that commonly occurs on the mucosa or skin, usually on the trunk or limbs. The growths are red with a smooth or lobulated surface, usually painless or slightly tender, and bleed easily after minor trauma. They are completely benign. The cause is tissue overgrowth due to chronic local irritation, physical trauma or hormonal factors.

Pyogenic granulomas on the vulva are a relatively rare finding, with few reports in the literature. In an article from 2011, Arikan et al. describe a 57-year-old woman unfortunate enough to have multiple such lesions in her genital area. She sought medical help after three years of suffering from foul-smelling, cherry red growths on her labia and clitoris. The lumps itched badly and had a tendency to bleed easily. Here's an icky photo:


 Pyogenic granuloma of the vulva: a 2-cm lesion at the upper intersection of the labia majora, a 2-cm lesion on the right labium majus and a 4-cm lesion on the clitoris.


A tissue smear and Gram smear from the lesions did not reveal any organisms. Serological tests for herpes, syphilis, and human immune deficiency viruses were also negative.The lesions were all excised and sent for histopathological examination, which revealed an ulcerated polypoidal structure with extensive proliferation of vascular channels lined by a single layer of endothelium. Pyogenic granuloma was diagnosed. The cause was probably chronic irritation of the genital area because of persistent itching associated with menopause. Six months after excision, the patient was still free from recurrence.


The patient's genital area after excision of the growths and suturing. Images from: Arikan et al. (2011)


Source:

Arikan DC, Kiran G, Sayar H, Kostu B, Coskun A, Kiran H. (2011) Vulvar Pyogenic Granuloma in a Postmenopausal Woman: Case Report and Review of the Literature. Case Rep Med. 2011: 201901. 




Thursday, October 23, 2014

Huge craniofacial tumor (DRASTIC!)


I've been digging through PubMed looking for an interesting photo to post and came across something that made me swallow hard. Initially, I thought it was a photo of a severely deformed infant. Then I read the article. The patient in question is a 19-year-old girl from Saudi Arabia with a huge maxillofacial tumor that recurred several times despite surgical intervention and chemo- and radiotherapy. It deformed her entire skull, displacing her eyes and mushrooming from her nose and mouth like some weird alien parasite.



Huge craniofacial tumor in a 19-year-old girl. Image from: Arab et al. (2014)
 

The tumor had invaded the pharynx and oral cavity, making it impossible for the patient to eat, so she was being fed through a gastrostomy. She weighed only 40 kg (around 88 pounds). Her airway was severely distorted by the growth: she was unable to breathe through the nose, and suffered from obstructive sleep apnea and shortness of breath. Her vision was also impaired, although amazingly, she was still able to see a little with one eye at least. The article describes how she was sedated for the placement of a tracheostomy in order to be able to breathe. Sedation was somewhat challenging since the patient was very afraid of pain and flatly refused IV cannulation (her veins were so sclerosed that inserting a cannula had become a difficult task), so a mixture of drugs was administered through the gastrostomy tube and an anesthetic cream was applied to the the planned tracheostomy site. The patient survived the operation and had no recall of the procedure afterwards. The article doesn't specify how long she lived after the tracheostomy; not long, I assume.

Stories like these just make you glad to be alive.

 

Source:

Arab AA, Almarakbi WA, Faden MS, Bahaziq WK (2014) Anesthesia for tracheostomy for huge maxillofacial tumor. Saudi J Anaesth. 2014 Jan-Mar; 8(1): 124–127.



Monday, October 20, 2014

Mucormycosis of the skin in a diabetic woman


Mucormycosis is a very rare but nasty and often deadly infection caused by fungi in the order Mucorales, such as Mucor or Rhizopus species. It is more common in people whose immune systems don't work properly - AIDS sufferers, cancer patients, folks receiving immunosuppressive treatment after organ transplantation... High doses of steroids and uncontrolled diabetes mellitus are risk factors too, for precisely the same reason - they weaken the body's natural defenses, making it easier for these opportunistic fungi to strike. 

Mucormycosis is an infection with many faces. It often involves the sinuses, brain or lungs; other affected areas include the gastrointestinal tract and skin, especially after injuries. Fungal invasion of blood vessels leads to blood clot formation, so that blood supply is lost in the affected body parts, causing tissue necrosis. If the infection has attacked the lungs, symptoms include difficulty breathing and a persistent cough; if the skin is affected, it becomes red and swollen at first, with a significant amount of pain, then turns black. Without an early diagnosis, the outcome can be dismal. Treatment involves amphotericin B therapy and, frequently, surgery to remove the affected tissue - often resulting in significant disfigurement or limb amputation. In cases of disseminated mucormycosis, where the fungi have attacked the entire body, mortality reaches 90% (in AIDS patients, the mortality rate is almost 100%).

Ahmadinejad et al. describe a case of mucormycosis that occurred in Iran in September 2011. A 63-year-old lady with poorly controlled diabetes (she was on oral medication - Metformin - but apparently it didn't help much) who had fallen from a vehicle and dislocated her wrist. She had been treated by an alternative practitioner who applied a poultice made of herbs, egg, flour and turmeric and bandaged her hand. Four days later, she was still in severe pain, so her family removed the dressing and found out that the hand and forearm were now swollen and turning black.

 Necrosis of the skin and soft tissues of the hand and forearm in a female diabetic patient with mucormycosis.


The woman was admitted to the Imam Khomeini hospital in Tehran. Apart from the excruciating pain, edema and discoloration in her left hand, she was found to have a low-grade fever (38 degrees Celsius), but her laboratory findings were more or less normal. The skin on her left hand and forearm was already necrotic, and the range in wrist motion had become limited. She was initially treated with antibiotics. Ultrasonography showed fluid collection inside her wrist. A diagnosis of tenosynovitis was made, and an operation was performed, but the patient was still suffering from pain and fever after 24 hours. Thrombosis of arterial vessels in her hand was diagnosed; the antibiotics were changed and heparin was added to treat the blood clotting, but to no avail. On the 10th day after admission, mucormycosis was finally suspected and the patient was put on amphotericin B. A smear and tissue biopsy showed fungal hyphae, and a tissue culture finally made it possible to identify the "criminal" - a fungus from the genus Rhizopus:



Unfortunately, it was too late to save the hand; the necrosis had spread to the palm area and to the fifth finger. 18 days after admission, limb gangrene was diagnosed, so the hand and forearm had to be amputated below the elbow. The patient received amphotericin B for 9 more days. Six months later, she was alive and well. 

Take a look again at the chain of events that led to the amputation: diabetes, a fall from a vehicle, a herbal dressing applied by an alternative medicine practitioner (it was probably very unwise on the patient's part to rely on traditional medicine instead of seeing a doctor right after her injury) and a delayed diagnosis. One wonders whether the outcome would have been different if the doctors in the hospital had decided to use amphotericin B earlier, instead of trying several different antibiotics in vain.


Literature:

Ahmadinejad Z, (2013)  Cutaneous Mucormycosis in a Diabetic Patient following Traditional Dressing. Case Rep Dermatol Med. 2013: 894927.

Wikipedia: Mucormycosis





Saturday, October 18, 2014

Farm labourer injured by a Rototiller blade


A short case report published in the journal Proceedings of the Royal Society of Medicine (now known as the Journal of the Royal Society of Medicine) in 1956, entitled "An Unusually Large Foreign Body in the Hand", describes the story of a man who had a bad accident while doing farm work, ending up with his hand impaled upon a large, curved blade. Surgeons removed the foreign body. Miraculously, there was almost no lasting damage.


"A farm labourer had his right hand impaled by a Rototiller blade, and was brought to hospital with the foreign body in situ. [The blade, which measured 4 7/8 in. by 5 in. overall and weighed 9 3/4 oz. had entered the ulnar border of the wrist and emerged through the palmar aspect of the thumb. Owing to its curvature, removal was impossible without open operation, where it was found to be lying between the tendons and nerves in front of the wrist and within the abductor policis brevis.]

Post-operatively, there was temporary median palsy and anaesthesia, but this recovered, and he was left with an almost normally functioning hand, the only residual function being incomplete flexion of 5th finger."


Given the dimensions of the blade, this sounds like a very lucky escape!




Source:

Strange F. G. S. C. (1956) An Unusually Large Foreign Body in the Hand. Proc R Soc Med. 49(4): 183.



Thursday, October 16, 2014

Fooling around with a needle


People sometimes get pretty strange ideas. Probably every ER doctor has seen at least one bizarre case where an unlikely foreign body has been inserted into the male genitalia and needs to be removed. Sometimes the motive is sexual pleasure, sometimes it's about adornment or penis enlargement, and sometimes it's difficult to ascertain the reason. The 20-year-old male who came to a hospital in Nellore, India with an unusual penetrating injury to his penis was initially too ashamed to admit what actually happened. A stitching needle, 6 cm in length, was stuck at the base of his penis, the sharp tip only just palpable. At first, he claimed it had been an accidental injury. Yeah, right. After some prodding, he admitted inserting the needle himself. The motive? Sexual gratification. Please don't ask me how it's possible to achieve sexual gratification with a needle.

Here's an X-ray showing a sharp metallic object in the pelvic area. The tip of the needle had pierced the prostate.



The needle had to be removed surgically, with fluoroscopic guidance. A pressure dressing was applied afterwards. The wound healed well, with only mild penile swelling in the postoperative period. The patient had no trouble passing urine and no erectile dysfunction after healing.

And here's a picture of the needle after removal. As you can plainly see, it was not a small needle.


Source:

S.V. Krishna Reddy (2013) Unusual Penetrating Injury to the Male Genitalia. Int Neurourol J. 17(1): 38–40.