Case

[Dr Hurly MD]

I have a 8 year old male Caucasian patient with no PMH with painful (10 out of 10 on VAS) red pruritic feet after spending 6 hours time on the beach on a sunny summer day. The skin in the feet showed reddish papules. The pain was also in his abdomen, excruciating 10 out of 10 pain on VAS. Parents used anti histamines and steroids as per the child's pediatrician, but they were useless. Complete bloodwork was all normal. Vitals normal. Physical exam remarkable for hepatomegaly upon palpation of the abdomen and guarding by the child with wincing expression on his face. The reddish pruritic papules are not as severe on the hands and arms as on his feet. There is a family history of Type 1 diabetes in his father and Crohn's Disease in his mother. What is the diagnosis? Thanks.

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[PADPM]

Obviously, there are a plethora of problems that can exist with similar symptoms, but Rocky Mountain Spotted Fever can present with similar features (though the rash is usually more macular than papular) and patients can also complain of abdominal pain with hepatomegaly.

Similarly, Hand, Foot and Mouth disease can cause some of these symptoms, though I don't believe hepatomegaly would be included, and oral lesions would be present.

Leukemia could also cause similar symptoms, though the blood work would certainly not be normal.

Just some quick thoughts.

 

[Dr Hurly MD]

Obviously, there are a plethora of problems that can exist with similar symptoms, but Rocky Mountain Spotted Fever can present with similar features (though the rash is usually more macular than papular) and patients can also complain of abdominal pain with hepatomegaly.

Similarly, Hand, Foot and Mouth disease can cause some of these symptoms, though I don't believe hepatomegaly would be included, and oral lesions would be present.

Leukemia could also cause similar symptoms, though the blood work would certainly not be normal.

Just some quick thoughts.

Nice differential. Nice start. On the right track.

 

[PADPM]

Wow, there are so many potential causes. CMV can cause the symptoms, even Celiac disease can cause the symptoms you describe with severe abdominal pain and sometimes even a pruritic rash. There's Fifth's disease, SIxth's disease, etc., that all have the potential to cause these problems.

 

[J-Rad]

?
UA normal?

 

[Dr Hurly MD]

Wow, there are so many potential causes. CMV can cause the symptoms, even Celiac disease can cause the symptoms you describe with severe abdominal pain and sometimes even a pruritic rash. There's Fifth's disease, SIxth's disease, etc., that all have the potential to cause these problems.

Ok, Diseases 1 thru 6 are good in the differential too since they are all erythemic skin rashes. But, you missed a little piece of info in the initial history. This little minute detail is the BIGGEST clue to the diagnosis.

 

[PADPM]

Ok, Diseases 1 thru 6 are good in the differential too since they are all erythemic skin rashes. But, you missed a little piece of info in the initial history. This little minute detail is the BIGGEST clue to the diagnosis.

Hmmm........ well Crohn's disease CAN cause inflammation of the liver/hepatomegaly and can also cause skin disorders. However, if you are being a "little" sneaky, Lyme's disease can also cause a unique paralysis of the facial muscles which would could possibly cause the "wincing" expression you described. However, the skin presentation is not typical.

I've got a lot on my plate today, but I'll keep thinking

 

[J-Rad]

OK, the pediatrician in me couldn't help but stop by here.

Any preceding illnesses, esp. a URI in the previous few weeks?

 

[Ferocity]

Sounds like we need

 

[Dr Hurly MD]

Sounds like we need

Actually, Dr Gregory House would solve it in several minutes. This case is actually easy (way way too easy for Dr House)....if you pay attention to the original history like I said before. Just be like House who is an expert in disecting the small minute details of the history,

There is nothing sneaky or tricky here in this patient case (remember, Dr House only tackles the tricky sneaky not so obvious cases....in 1 week. That's his policy at Princeton Plainsboro: 1 patient per week).

 

[Ferocity]

Actually, Dr Gregory House would solve it in several minutes. This case is actually easy (way way too easy for Dr House)....if you pay attention to the original history like I said before. Just be like House who is an expert in disecting the small minute details of the history,

There is nothing sneaky or tricky here in this patient case (remember, Dr House only tackles the tricky sneaky not so obvious cases....in 1 week. That's his policy at Princeton Plainsboro: 1 patient per week).

It's lupus!

 

[skiz knot]

It's lupus!

It's never lupus.

 

[that1guyfromFL]

Any preceding illnesses, esp. a URI in the previous few weeks?

I'd like to know the answer to this question as well.

 

[PADPM]

Actually, Dr Gregory House would solve it in several minutes. This case is actually easy (way way too easy for Dr House)....if you pay attention to the original history like I said before. Just be like House who is an expert in disecting the small minute details of the history,

There is nothing sneaky or tricky here in this patient case (remember, Dr House only tackles the tricky sneaky not so obvious cases....in 1 week. That's his policy at Princeton Plainsboro: 1 patient per week).

Ha, Dr. House certainly never cracks a case in "several minutes". He usually makes several wrong diagnoses, puts the patient through a plethora of high tech, esoteric and costly tests, (many of which can kill the patient), prior to FINALLY figuring it out. However, at that point he has brainstormed with several of his underlings, put the patient through a gazillion tests, spent crazy money on these tests and then miraculously comes up with a diagnosis.

And I didn't really mean "sneaky or tricky", I just thought that there was a possibility that when you mentioned the patient had a "wincing expression", it may have implied some facial issue.

 

[shenanigans327]

 

[Dr Hurly MD]

Ha, Dr. House certainly never cracks a case in "several minutes". He usually makes several wrong diagnoses, puts the patient through a plethora of high tech, esoteric and costly tests, (many of which can kill the patient), prior to FINALLY figuring it out. However, at that point he has brainstormed with several of his underlings, put the patient through a gazillion tests, spent crazy money on these tests and then miraculously comes up with a diagnosis.

And I didn't really mean "sneaky or tricky", I just thought that there was a possibility that when you mentioned the patient had a "wincing expression", it may have implied some facial issue.

Of course he does crack cases in minutes, even seconds: in CLINIC with outpatients, which he hates to do (because they are too easy and boring for him mentally), but Dr Cuddy makes him do as mental punishment when he is being naughty. Those esoteric costly tests that can kill patients are meant for difficult inpatient ward cases that no other MD or DO can solve (the premise of the TV show). Btw, do you have a diagnosis yet?

 

[questiondoc]

Parasite?

 

[PADPM]

T-Cell lymphoma could cause sun induced papules as well as hepatomegaly, though the primary site of the lesions is not usually the feet/hands.

 

[Dr Hurly MD]

T-Cell lymphoma could cause sun induced papules as well as hepatomegaly, though the primary site of the lesions is not usually the feet/hands.

Very good start for a BETTER differential! You seemed to figure out the hint in the initial history. Nice better start. Now we are getting somewhere.

 

[Dr Hurly MD]

http://www.youtube.com/watch?v=bvLgCatPxkQ&feature=related

Let's speed this up. HINT: What disease inspired this folklore legend creature?

 

[shenanigans327]

http://www.youtube.com/watch?v=bvLgCatPxkQ&feature=related

Let's speed this up. HINT: What disease inspired this folklore legend creature?

Did he get bit by a vampire??????



J/K...is it porphyria?

 

[janV88]

Porphyria cutanea tarda!

 

[Dr Hurly MD]

Did he get bit by a vampire??????



J/K...is it porphyria?

Yes. You are correct. Good job podiatry student! Vampires and Dracula the King of the Vampires were inspired by the disease porphyria. The actual Romanian dictator Vlad the Impaler the 3rd, who inspired the legend Dracula, was diagnosed with acute porphyria.

(do not worry about which type, I just want you to know the disease in general. There are 8 major subtypes of porphyria.)

BUT IF YOU WANT, YOU CAN TRY TO GUESS WHAT SPECIFIC SUBTYPE with this poor 8 year old boy. I will take only three answers.

 

[Dr Hurly MD]

Porphyria cutanea tarda!

No. Good try. I will take two more answers. Then reveal the actual diagnosis.

 

[shenanigans327]

Yes. You are correct. Good job podiatry student! Vampires and Dracula the King of the Vampires were inspired by the disease porphyria. The actual Romanian dictator Vlad the Impaler the 3rd, who inspired the legend Dracula, was diagnosed with acute porphyria.

(do not worry about which type, I just want you to know the disease in general. There are 8 major subtypes of porphyria.)

BUT IF YOU WANT, YOU CAN TRY TO GUESS WHAT SPECIFIC SUBTYPE with this poor 8 year old boy. I will take only three answers.

hereditary coproporphyria? It's a stab in the dark...

 

[Dr Hurly MD]

hereditary coproporphyria? It's a stab in the dark...

You are oh so close podiatry student. Excellent try. Read the initial history carefully again. I will take one more answer.

 

[shenanigans327]

You are oh so close podiatry student. Excellent try. Read the initial history carefully again. I will take one more answer.

variegate porphyria? however I didn't see an indication of developmental delay in the hx(except that he winced in pain, instead of verbalizing which I thought would be expected in an 8 year old)...which appears common with this type of disease.That'd probably be my best guess

 

[Dr Hurly MD]

variegate porphyria? however I didn't see an indication of developmental delay in the hx(except that he winced in pain, instead of verbalizing which I thought would be expected in an 8 year old)...which appears common with this type of disease.That'd probably be my best guess

No. Close. Ok the actual diagnosis is:

Erythropoietic Protoporphyria (EPP). The initial history presented fits this disease:

HISTORY
1) Age and gender of patient: 8 year old Caucasian male.
2) Exposed in the summer sun in the beach for 6 hours
3) Erythematous (aka reddish) PRURITIC (aka itchy) rash more severe on the feet than on the hands that failed to heal with topical anti histamines and steroids.
4) Later onset of abdominal pain

PHYSICAL EXAM: hepatomegaly: suggestive of porphryins accumulating in the liver, leading to enlargement and early signs of hepatic failure.

Based on the history and physical, there is a SUSPICION of EPP.

SO, diagnosis can be confirmed by:

1) Measure blood levels of porphyrins
2) Genetic test for the enzyme deficiency (in this case, the enzyme ferrocheletase, the last ezyme in the metabolic pathway for synthesis of heme)

 

[PADPM]

1) Kudos to shenanigans, though I have a slight suspicion that he/she is an excellent internet searcher, since I doubt that any podiatry student would have realistically ever experienced this disorder or a similar disorder at this stage of his/her career.

2) I've been in practice for over 20 years, and can't say I'VE ever witnessed this presentation,nor have I had any patients who have had this in their medical history. Not a disorder that walks into a podiatric practice on a regular basis!!!

 

[Dr Hurly MD]

1) Kudos to shenanigans, though I have a slight suspicion that he/she is an excellent internet searcher, since I doubt that any podiatry student would have realistically ever experienced this disorder or a similar disorder at this stage of his/her career.

2) I've been in practice for over 20 years, and can't say I'VE ever witnessed this presentation,nor have I had any patients who have had this in their medical history. Not a disorder that walks into a podiatric practice on a regular basis!!!

I have in my 33 years of practice in Internal Medicine and Endocrinology. You could be in practice for 60 or 80 years. But the same principle of my realm called allopathic medicine applies:

When you hear hoofbeats you expect these:

http://www.youtube.com/watch?v=MPdSeijboW4

It's not Secretariat all the time.

 

[janV88]

Question - Shouldn't the CBC results have shown anemia or is that not always the case?

 

[shenanigans327]

1) Kudos to shenanigans, though I have a slight suspicion that he/she is an excellent internet searcher, since I doubt that any podiatry student would have realistically ever experienced this disorder or a similar disorder at this stage of his/her career.

2) I've been in practice for over 20 years, and can't say I'VE ever witnessed this presentation,nor have I had any patients who have had this in their medical history. Not a disorder that walks into a podiatric practice on a regular basis!!!

you got me

But it was a fun exercise and I was able to learn something...who knows? this may give me the win on Jeopardy one day! I'll split the winnings 50/50 with you PADPM

 

[Dr Hurly MD]

Question - Shouldn't the CBC results have shown anemia or is that not always the case?

Not always the case, hence, as per previous post to PADPM about hoofbeats.

 

[PADPM]

I have in my 33 years of practice in Internal Medicine and Endocrinology. You could be in practice for 60 or 80 years. But the same principle of my realm called allopathic medicine applies:

When you hear hoofbeats you expect these:

http://www.youtube.com/watch?v=MPdSeijboW4

It's not Secretariat all the time.

Podiatrists also practice "allopathic" medicine, and I've also been in practice long enough to know and understand that not every hoofbeat is from a horse. But reality is reality, and the fact remains that although I often diagnose a rare disorder that may only present once or twice in a career, there are still disorders that are not within my expertise or realm of practice. And when that happens and a patient enters with a myriad of symptoms I can not immediately (or in short order) recognize, I do what I believe is best for the patient and refer to the proper specialist/expert.

I attempt to not be a "jack of all trades", because we all know the rest of that cliche.

 

[J-Rad]

So the direction I went has a different rash (though, if you look at the picture I posted which is a milder appearing rash, it does have a papular appearance over the macules. Not having an extended timeline on the case, I wondered if purpura would develop and the beach/sun was a lark. Henoch-schonlein purpura can, on occasion, include hepatomegaly, and frequently includes abdominal pain. And is a heck of a lot more common than porphyria. Thus the questions I asked.

 

[Dr Hurly MD]

To conclude...HOUSE HATES CLINIC WITH A PASSION (too many 'Horses' in there that bore him to death!) His favorite pet are Zebras: once per week in that lovely place called the wards.

http://www.youtube.com/watch?v=pZsICYJ1tW4

 

[PADPM]

So the direction I went has a different rash (though, if you look at the picture I posted which is a milder appearing rash, it does have a papular appearance over the macules. Not having an extended timeline on the case, I wondered if purpura would develop and the beach/sun was a lark. Henoch-schonlein purpura can, on occasion, include hepatomegaly, and frequently includes abdominal pain. And is a heck of a lot more common than porphyria. Thus the questions I asked.

I agree. And T cell lymphoma can also present with a sun induced papular rash and hepatomegaly. Even Celiac disease or Crohn's could present with similar symptoms and those are CERTAINLY more common