Harlequin baby

[Perrotfish]

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So coming up on Intern year I've had a series of worst case scenarios running through my head, and one in particular stands out: does anyone know what the acute treatment is for a harlequin baby? If you're paged to the delivery room and they hand you a case of harlequin ichthyosis what are your next steps What services do you page? What tests do you order? What kind of access would you obtain? Is there any advantage to starting isoretinoin immediately vs. a few days down the line when the child is more stable?

 

[J-Rad]

http://emedicine.medscape.com/article/1111503-overview

Derm.

ABCs. IV access likely needed. Umbilical catheters. Aggressive workup and treatment for infection.

In some ways, you are treating a burn-patient like patient. I was once involved with a neonate with a severe variant of epideromolysis bullosa. Similar, though probably worse in as much as everything you do can make their skin slough off.

 

[boopitybop]

jesus christ i wish i didnt google that

 

[SurfingDoctor]

Exceptionally unlikely you will ever encounter this disease. As JRad said, ABC. I doubt anyone more senior will have any experience with this syndrome and as an intern, you certainly won't be solely responsible for managing a patient like this.

There is bigger question of whether or not you should even proceed to make this patient "more stable"... but I won't get into that discussion.

 

[oldbearprofessor]

Exceptionally unlikely you will ever encounter this disease. As JRad said, ABC. I doubt anyone more senior will have any experience with this syndrome and as an intern, you certainly won't be solely responsible for managing a patient like this.

There is bigger question of whether or not you should even proceed to make this patient "more stable"... but I won't get into that discussion.

eh, not so rare in my business. I've cared for a half dozen or more. Good chance to wake up derm for a 2 AM consult.😉

 

[rock_climber]

Wow, no need to worry about this. Go drink for a few weeks until intern year starts. Memorize acetaminophen dosing and you'll be set for 84% of overnight calls.

 

[SurfingDoctor]

eh, not so rare in my business. I've cared for a half dozen or more. Good chance to wake up derm for a 2 AM consult.😉

Ha, I stand corrected about the senior remark 😛

 

[Apollyon]

eh, not so rare in my business. I've cared for a half dozen or more. Good chance to wake up derm for a 2 AM consult.😉

This may be, quite honestly, the ONLY thing that is a true dermatologic emergency that needs a dermatologist. Among the adults, we always talk about Stevens-Johnson and TENS, but that those patients go to the unit, and derm doesn't need to see them until the morning. I hadn't even thought about pedi/neonatoland.

 

[Perrotfish]

There is bigger question of whether or not you should even proceed to make this patient "more stable"... but I won't get into that discussion.

I actually don't think that's a big question with this one. It seems like this is a condition that gets more moderate with age, often (always?) has no neurologic sequelae, and if you can get them over the initial hump and keep them on Isoretinoin they can have pretty good quality of life for a good long while (though they always look like burn victims). That's better odds than a lot of what we treat in the NICU.

 

[SurfingDoctor]

I actually don't think that's a big question with this one. It seems like this is a condition that gets more moderate with age, often (always?) has no neurologic sequelae, and if you can get them over the initial hump and keep them on Isoretinoin they can have pretty good quality of life for a good long while (though they always look like burn victims). That's better odds than a lot of what we treat in the NICU.

I honestly have never seen nor treated a child with Harlequin ichtyosis so my level of expertise is zero. However, from what I read on GeneReviews, the quality of life sound pretty miserable, specfically:

"Severe ectropion, eclabium, alopecia, palmoplantar keratoderma with painful fissures and digital contractures, and growth delay are common."

That being said, it is well known that physicians interpretations of quality of life and patients' own feelings about quality of life can be very different. I also don't know how Isoretinoin impacts this (though I doubt anyone does since the oldest living person I read was 26). I'm not advocating for one way or another, just mearly stating that physicians often do things to patients because they can, not really stopping to think whether or not they should. That's all.

 

[Perrotfish]

F/u question: how do you dress the skin in a harlequin baby? Dry dressings is he rule in adult burn patients, but is that best here? What about dressings soaked in warm saline? Creams or ointments? How do you minimize heat and fluid loss?

Similarly, what would you give for an initial fluid bolus?

Edit: I want to know what to do immediately after birth more than long term

 

[SB100]

I had a collodion baby in the NICU. We didn't know about the baby until the nurse cleaning her off thought she was wiping off vernix when it was really the collodion membrane. She was put in a plastic bag (like one you would use for gastroschisis) to reduce evaporative fluid loss, put on a radiant warmer, and dermatology was consulted. I was kind of surprised dermatology came within the hour to see her.