Dr. Daniel Krowchuk, a pediatric dermatology specialist at Wake Forest Baptist Health Brenner Children's Hospital, presents case studies of children with birthmarks, melanoma and rashes, and describes how these occurrences may be symptoms of more serious conditions.
Part 1 of 3
Chapters,
DANIEL KROWCHUK: Thank you very much for attending Practical Pediatrics this year. Hopefully the next 40 minutes or so you'll find interesting and hopefully instructive. And I do have a Zika connection. Sadly I have no lucrative financial relationships with industry that would affect my presentation today. All right. I'm counting down to vacation so I chose the countdown theme in this presentation. And we'll start with three birth marks. So the first is this infant who was born with this vascular appearing lesion on the face, but appears well in all other respects. And the question that we're going to pose throughout all of these cases are what's the diagnosis and what if any evaluation is required. So when you look at this infant, the key elements to me are the fact that this lesion was present at birth. So that tells you it's probably some sort of vascular malformation. Its unilateral and it affects the first and second branches of distribution of the trigeminal nerve and it has a deep red color. So all of those things put together make you wonder about a port wine stain. And with that distribution there's some other potential consequences to the infant that we'll talk about in a moment. The question is well, could it be anything else? So first of all, when a hemangioma appears it's often not present at birth. So this is a four week old infant. The photographs were shared with me from Doctor Tom McLean. And this infant's hemangioma appeared at five days of age. So that would make it different from a port wine stain. But often when a hemangioma appears it is really flat. So that could be something that would be difficult to distinguish. So I would just, though it's not the purpose of this talk I would just share with you, if you have any doubts about the efficacy of propranolol in treating hemangiomas this should put those to rest. So this is the same infant at age one year treated with 11 months of propranolol with really striking improvement. There are some dilated vessels on the cheek and the forehead which could be treated with laser and would be remarkably better. So, what else it be? Well, could it be a salmon patch? So salmon catches are also vascular malformations except they are temporary, not permanent. And what distinguishes them from port wine stains is they're not as deep red in color typically, and they have the classic location. So here you have it at the glabella and the upper eyelids, known as angel kisses or at the nape of the neck, the stork bite. So going back to our infant. So we're concerned that this is a port wine stain. And remember that this is a permanent vascular malformation that can occur on any part of the body. But when it occurs on the face it raises concern about the possible coexistence of Sturge-Weber syndrome, which as you'll recall, is not only to port wine stain affecting the facial skin, but there is central nervous system involvement potentially with abnormal vasculature in the cortex, and lastly the eye, principally with glaucoma. So there's been a lot written over many years about the location of the port wine stain and what risk that confers for the existence of Sturge-Weber syndrome. And as you'll see from this study of 259 patients with a facial port wine stain, first of all, the risk of Sturge-Weber syndrome is low, only about 6%. But if you look at the table on the right you'll find that the distribution of the first branch of the trigeminal nerve, especially the upper eyelid is key. And that risk can range from 10% if it's just V1 that is involved, to as much as 40% or more if you have multiple areas involved including V1. So if we go back to our patient this issue of what we should do is brought into focus, because there is involvement of V1 in this infant. And although asymptomatic, the things that you would want to do would be to consider a pediatric ophthalmology appointment fairly soon on to exclude the possibility of glaucoma. You would want to talk with your pediatric neurology colleagues about whether they want to do an MRI scan. And this is an area of some controversy. The MRI, as I understand it, is not particularly sensitive for detecting the vascular abnormalities of Sturge-Weber syndrome in the cortex below the age of one. But, if these were in fact detected, prophylactic aspirin therapy might be indicated. So again, it's a conversation that you'd have with your pediatric neurology colleagues. And lastly you'd think about having a discussion, either with pediatric dermatologist locally if they're doing laser, or if it's here it would be with our plastic surgeons, about the timing of laser therapy to try and improve the appearance of the lesion. Next we're going to move on to this infant who was born with several dark spots on the skin, has developed more over time. And again, the same question, what's the diagnosis? Or what diagnosis are you concerned about and what might you do? So all of these things are hyper pigmented macules. They have the appearance of cafe-au-Lait macules. And when you see multiple such lesions there are several associations. The most notable of which is neurofibromatosis type one. But there are others. There is an entity called legius syndrome in which there is multiple cafe-au-lait macules, axillary freckling, and macrocephaly. There's even a familial syndrome of multiple cafe-au-lait macules in which there are no other abnormalities. And as you can see there are additional syndromes that may be involved. So the question is, if you have an infant who has this many cafe-au-Lait macules what's the likelihood that they have NF1? And as it turns out there have been a couple such studies that have addressed this. The one that I've summarize for you here, there are 110 children with cafe-au-lait macules, 75% with six or more ultimately were diagnosed as having NF1. So a three out of four chance of having that diagnosis. And that diagnosis was made in 75% by the age of four, 96% by the age of six, and 100% by the age of eight. And the reason for that delay is that often the other physical findings that are diagnostic criteria for NF1 don't appear until the child gets a little bit older. So just to review the diagnostic criteria for NF1 since this is a fairly common syndrome. On this slide and the next slide I'll present those criteria and you need two or more to make the diagnosis. So six or more cafe-au-Lait macules greater than 0.5 centimeters in those who are prepubertal, greater than 1.5 centimeters in those postpubertal. Axillary freckling or inguinal freckling and you see an example in the upper right of axillary freckling. Two or more Lisch nodules, which are hamartomas of the iris that are best seen by slit lamp exam. And this is going to be one reason why we would think about the pediatric ophthalmology appointment. Two or more neurofibromas or one or more plexiform neurofibromas. So I think in that middle photograph you see two examples of these soft tumors that are neurofibromas, and larger ones in the chest wall which are the plexiform neurofibromas. Characteristic osseous lesion. You can see the bowing of the tibia in the right hand upper photograph. And lastly a first degree relative with NF1. So going back to our patient who was otherwise asymptomatic we got a careful family history, which was not remarkable. It's probably wise to go ahead and get an ophthalmology evaluation for Lisch nodules and for other entities such as optic gliomas that can occasionally occur. Observe for other signs of NF1 and then if a second diagnostic criteria comes along, that's a point at which you can refer to genetics. And if you need resources for this the couple that I would recommend, GeneReviews is an excellent resource for many genetic disorders. There are also guidelines for health supervision for children with NF1 published in Pediatrics in 2008. And Doctor Jewett our geneticist, tells me that the resource for families that she's found most useful is the Children's Tumor Foundation website. Last of three birth marks. The parents a five-year-old boy are concerned about his birthmark and ask if it should be removed. What's your diagnosis what guidance would you provide? So as you look at this it's a hyperpigmented-- probably it's a thin plaque. It's a two dimensional photograph so you have a little bit of a disadvantage there, but it's probably a bit elevated. And if you are up close to this photograph you'd see a few extra hairs compared with the surrounding normal skin. And I think you can appreciate that there's a textural difference between the affected area and the non affected area. Sometimes these things could look a lot like cafe-au-Lait macules, but in fact that textural difference helps you think about a congenital melanocytic nevus. So these are reasonably common abnormalities of melancoyte migration. They're present typically at birth, but can appear even after birth during the first two years of life. And I don't know the history of this, but they're classified by size. And it's not entirely intuitive frankly. So small are considered less than 1.5 centimeters, medium 1.5 to 19.9, and large 20 or more. And that is the estimated adult size. And you can use the factors in the fourth bullet point to multiply the size of the lesion in an infant to estimate the adult size. And so for the head that's about two in for the extremities about three. So most of these fortunately are small and medium sized and they behave well. So the risk of malignancy within a congenital melanocytic nevus is increased compared to the surrounding normal skin. But if that is a small or a medium sized lesion that risk is really, really small. We don't know for sure, but the most recent estimates would say less than 1% for a small lesion, and probably not much more for a medium size lesion. Malignant change, if it is going to occur, generally never happens during childhood. So it's something that happens after puberty and that's the reason why the conventional wisdom is just to observe these not electively excise them. The problem, of course, is if you are unfortunate enough to have a large congenital melanocytic nevus because the risk of malignant transformation is somewhat higher. And that transformation can happen during childhood. And these are the very lesions that you might like to try and excise in a staged way to try and reduce the risk malignancy. But of course technically that's very difficult. So the management options for these large lesions are tissue expansion and staged excision. And the reasoning behind this is to hopefully reduce the risk of melanoma and reduce the psychosocial burden, versus observation. And that's a very difficult discussion and I think if you encounter an infant who has one of these lesions your probably well served and the family is by referring them to a pediatric dermatologist to get an opinion about that. There are some family resources about nevi that I've listed for you. So just a word about neural melanosis, which is concern if an infant has one of these large congenital melanocytic nevi. So these are nests of melanocytes that are in the central nervous system and they can be quiescent, or they can proliferate, or they can undergo malignant transformation. And you can imagine that if they grow they will put pressure on sensitive things in the central nervous system, and cause all sorts of difficulties. The risk is greatest in those who have lesions greater than 40 centimeters in diameter or those who have multiple satellite lesions, particularly 20 or more. And the question that arises here is whether you should MRI in the first four for six months of life to look for evidence of CNS melanosis or not. The problem is that even if you identify it, you can't do anything about it, and you don't know how it's going to behave. So again, a difficult decision. We went to three. We're going to two resistant diaper rashes. So our first patient has had this eruption that involves not only the diaper area but the face as well. It has been unresponsive to conventional therapies. And the things that I would point out when you look at this is just how well defined the affected areas are, very abrupt borders. And it almost looks, particularly when you see the face, as if the lesions are just stuck on the skin. And lastly, that there's a periorificial distribution. So you've got evidence of rash around the anus and around the mouth. And taken together, and these features once you've seen it once or twice, really suggest the diagnosis acrodermatitis enteropathica, which is an autosomal recessive disorder in which a mutation creates problems with transporting zinc into the body through the intestine. So patients can absorb a bit, but not a sufficient amount. And in formula fed infants this generally presents very early in life, within the first days or week or so of birth. In those who are breastfed it often occurs after weaning, because breast milk has more sufficient amounts of zinc that are better absorbed. So there are a variety of symptoms that can occur acrodermatitis enteropathica and I won't belabor these. The skin lesions are as we've already described. You can also have some hair loss. Interestingly children who have this often have behavioral disturbances. They're a little bit fussier and more irritable, a little bit more depressed than usual. There can be gastrointestinal symptoms including growth retardation, failure to thrive, diarrhea, and some ophthalmologic consequences as well. So as it turns out, while acrodermatitis enteropathica is the most common example of this sort of eruption, a variety of other entities can produce a rash that is almost identical. And those include the deficiencies that I've listed here, including Kwashiorkor, and in CF, and essential fatty acid deficiency, and some ways in which you might distinguish the two entities. The patient that you see on the right is one we saw in our dermatology clinic some years ago. The top photograph is her first visit and after instituting zinc supplementation it's striking how rapidly the improvement occurs. The bottom photograph is 10 days after she started supplementation. And you'll also notice this is a little girl whose parents had remarked on the fact she was just crabbier than could be imagined. But you see on the bottom photograph the hint of a smile. She was even happier 10 days into therapy. And so you'll want to monitor the zinc levels periodically. This may resolve over time and it may not. It may require lifelong supplementation with zinc. Our second resistant diaper rash. So again, a similar story. Not responsive to antifungals, not responsive to topical corticosteroids. And you can see that there's something really deep erythema in the inguinal folds. Something
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