Skin Problems and Down Syndrome
21
August

By Adem Lewis / in , , , , , /


– We’re gonna switch gears and talk about dermatologic issues in
kids with Down Syndrome. This talk was created together
with Dr. Renee Howard, one of our professors of pediatric dermatology at UCSF. We thought about doing this in tandem, switching mics, and then we
figured, it might be best if one of us presented the information, but she will be presenting next about dermatological issues in all
individuals with disabilities, and will be answering questions together, AKA she’ll answer all the
questions about dermatology. Still nothing to disclose. We’re gonna talk about
common dermatologic issues in individuals with Down Syndrome, talk about some treatment modalities, and then identify which things to refer and which things to
manage in your own offices if you’re a doctor. So let’s start by talking
about cutaneous features in children with Down Syndrome. A variety of dermatologic issues are more common in Down Syndrome. The single transverse palmar crease, please do not call it a simian
crease, that’s insulting, is the most common cutaneous finding. It’s unilateral, but it’s also very common in the general population. In general, transient
cutaneous manifestations are more likely to be
seen early on in life, while the more chronic skin conditions tend to emerge later on in life. There’s several pre-disposing factors to having skin stuff. Number one, I think hypotonia. When you’re a baby, you’re more likely to stay in one position. So the neck, the armpits,
the inguinal folds are gonna be chronically
exposed to moisture, which can lead to rashes. Lying on your back all the time can lead to rashes, bald spots, pressure sores in rare occasions. The low oral motor tone
often leads to drooling. Poor coordination with
feeding leads to milk facials, and food facials which are
not great for the skin, and then the delayed
achievement of continence means that someone is gonna be in a diaper for a longer period of time, also pre-disposing to rashes. Premature aging, also pre-disposes one to skin differences. Pre mature onset of age dependent changes, like hair graying and
thinning and wrinkling, and is thought to be related to a lower basal level
of DNA repair enzymes. Especially the decreased ability to repair UV induced DNA damage, as well as possibly overproduction
of oxygen free radical. This peroxide dismutase
gene is on chromosome 21 and oxidative stress has
been linked to T-cell mediated skin diseases, from psoriasis to seborrheic dermatitis, to contact derm and atopic derm. Immune dysfunction also plays a role. Individuals with Down Syndrome all have sort of a
relative immune deficiency, no unifying diagnosis, but definitely abnormal. Antibody mediated and cell
mediated immunity in vitro, we’ve seen reduced killing
of Candida albicans and Staph aureus, and then, unclear whether this translates to clinical significance because studies that have looked
at zinc replacement are old and they’re all from the
eighties and nineties and have not shown a huge difference, but increased prevalence
of zinc deficiency may have something to do with increased dermatologic issues as well. Increased risk of autoimmunity, which is well described in
individuals with Down Syndrome. Obviously has an effect on the skin. Some autoimmune diseases have
dermatologic manifestations, this is dermatitis herpetiformis, associated with celiac but
also thyroid disease, diabetes, autoimmune hepatitis can
have skin representations. And then some autoimmune diseases
directly affect the skin, from vitiligo, to alopecia
areata, to psoriasis. So from here on out, I’m gonna take you
through a whirlwind tour of skin conditions. I have thirty minutes to
go over thirty slides, so I will have to go quickly, everything is in your handouts, and I made the slides a bit busy so you could refer to them in your handout if you come up with any of these issues. Starting with vascular lesions. Pretty much all babies
will have some degree of cutis marmorata, or livedo reticularis, which are very, very similar conditions. When dermatologist thinks of
livedo reticularis, they think autoimmune, rheumatologic conditions. But when it comes to
kids with Down Syndrome, it actually doesn’t seem to be associated with vasculitides. They’re more prominently
seen in cold temperatures, so whenever my nurses undress
the babies to weigh them, you can see the cutis marmorata, you can see some cutis and livedo in the pictures above. You don’t have to refer cutis. It will go away on its own, it will probably take longer to go away than most other babies
without Down Syndrome, but it’s not scary or dangerous. Vascular malformation. I couldn’t find anything in the literature that showed a clear increased
risk of vascular malformations in individuals with Down Syndrome, but what we do know is that
kids with Down Syndrome are at increased risk of atresia
throughout the GI tract, including anal atresia, and anal atresia is associated at times with vascular malformations as part of bigger syndromes such as PELVIS and SACRAL syndromes. I love dermatology because
all their syndromes make complete sense and have cute names. So PELVIS stands for perineal hemangioma, external genital malformations,
lipomyelomeningocele, vesicorenal abnormalities,
imperforate anus, or a skin tag. SACRAL is spinal dysraphism, anogenital cutaneous renal,
and urologic anomalies, and angiomas in the
lumbosacral localizations. So this is an example of one patient with this rash that would be paler, and then become red, and
then become purplish, and then disappear, and this child that has anal atresia, and also has a tethered cord, and really fits the picture
for one of these syndromes. And vesicoureteral reflux it really fits the
picture for the syndrome. Transient myeloproliferative disorder is seen with increased
incidents with individuals with Down Syndrome, it’s a transient aberrant proliferation, of some cell lines. Some kids need treatment, for some kids it resolves on its own. And then the more serious version, congenital leukemia. Both of these conditions
can be associated with dermatologic manifestations. Congenital leukemia is associated with leukemia cutis, which are these blue, firm infiltrated papules and nodules, and then for leukemoid reactions and transient myeloproliferative disorder, kids can have vesiculopustular eruptions, such as the ones seen in this text book or peer-reviewed article picture. There should be a deferential, because it could be, of course, Herpes, Staph, congenital candidiasis, however, a CBC might give you
a clue into what’s going on, because if you see a
whole lot of white cells, then it’s probably transient
myeloproliferative disorder or congenital leukemia. And it resolves with treatment, the treatment is not geared at the rash, the treatment is geared at
the blood cell dyscrasia. Atopic dermatitis is common. According to the literature, about as common as it is
in the general population, which is common. Xerosis cutis, so dry skin, is so common. Everybody gets it, or almost everybody has dry skin, I can ever generalize. And it tends to get worse
with time and with age. And certainly having dry skin and a non-intact skin barrier can pre-dispose you to
have irritant contact derm, and allergic and contact dermatitis. So gentle skin care needs to be emphasized from the very beginning. I won’t use names or brands, I’d just say, if you can smell the soap, it’s not good for you. If you can smell the lotion,
it’s not good for you. And you know, we talked
about sensory issues. But if you get used to this baby being lubed up all day long from when they’re babies, then it’s just going to be
a part of their routine, as opposed to if you tried to start moisturizing a teenager
with sensory issues. Eczema is also common, and where I see it a lot is the cheeks, so malar erythema is commonly seen in kids with Down Syndrome,
especially in the winter. Many of you are quite
familiar with treating eczema, so gentle skin care, topical
steroids when indicated, and managing the Staph colonization that can worsen eczema. Most eczema doesn’t need to be referred, if you get stuck and you cannot get good results and you know that the family is actually doing what they’re supposed to then you should refer, but the cases that are
referred for atopic derm are few for Down Syndrome, for me. Cutaneous infections are common, ranging from folliculitis to furuncles, to abscesses to secondary
impetigo in someone with eczema. A study, there’s the same few studies are referenced throughout this talk, because there aren’t that many people who are looking at dermatologic issues in individuals with Down Syndrome. I want to note that some of these studies were done in institutionalized patients, so we have to keep that in mind when thinking about
our sample size and the factors of living in an institution that could affect the skin. But Schepis et al found folliculitis to be the most common dermatologic condition in their studied population. It was a mix of bacterial folliculitis, which is very common in the
gluteal and perineal region, as well as pityrosporum
folliculitis which is often seen in adults with Down Syndrome, in the chest and infrascapular region. How do we treat it? If it’s bacterial we often use eradication measures, so your diluted bleach bath, topical antiseptics like Hibiclens wipes, and then topical clindamycin gel is often very effective at controlling the bacterial folliculidities. For pityrosporum, topical ketoconazole, your Selsun Blue, basically. But you know, you don’t want to put shampoo necessarily on the skin, so you can also get two
percent ketoconazole lotion, but you may need oral treatment. And a single dose of
flucon is often enough to eradicate pityrosporum. So you don’t really have
to refer folliculitis unless it’s refractory complicated. Seb derm is super common, and it has a bimodal age distribution. Babies, but all babies have some, or most babies have
some seb derm cradle cap on the scalp and on the T-line. Or the T-region. And then later on, in older childhood, often presenting as itchy dandruff. Strong association with
pityrosporum folliculitis. For babies, as Dr. Howard says, who is it bothering? The parent or the child, right? So you can do mineral oil in a comb, you may use hydrocortisone, for older children ketoconazole,
two percent shampoo, or Selsun Blue, can
control seb derm very well. You don’t have to refer it unless it seems really hard to treat, because the deferential
of seb derm in the scalp is scalp psoriasis, so if you don’t get good
control with these measures, then it might be psoriasis, then it probably needs a
dermatologist’s, input. Keratodermatoses are very common as well. Keratosis pilaris has a well known association with Down Syndrome. 15 percent of individuals
with Down Syndrome were found to have K.P in one study. And what it is is the hair follicles get plugged up with dead skin cells, which creates this rough texture, it often happens here and on the thighs. And it can be itchy, and it can be dry. The treatment is trying
to use non-soap cleansers to allow the skin to retain its moisture, but exfoliating the dead
skin cells can be helpful. And then using moisturizing creams, especially moisturizing
creams containing urea, or salicylic acid, can be very
helpful in controlling K.P. Palmoplantar hyperkeratosis
is also very common, high prevalences in some studies. I have to be honest, I
don’t see as much of it as what’s quoted in the studies. But it’s well defined,
hyperkeratotic plaques that are distributed at pressure points of the palms and soles. And the treatment is emollients and keratolytic agents. You can use topical retinoids and topical vitamin D ointments,
such as calcipotriene. These are things that
don’t need to be referred unless they’re complicated refractory. You know, a lot of
families come in saying, I need a dermatologist referral, and I feel very empowered to say, okay, how about I try to treat the rash, since there’s a long wait
to see the dermatologist, because there’s few excellent
people like Dr. Howard, and then if we get stuck, then no problem. And it feels real good
to solve people’s issues without having to send them
to yet another specialist. Periorificial dermatitis, I see it a lot. They’re periorificial
papules and pustules, and they can start as
isolated papules and pustules and can become more confluent. And they’re on the spectrum of rosacea. So if you’re familiar with rosacea, you know that it can
flare and then go away, and it might flare with the time of day, with the temperature, hopefully my kids are
not drinking alcohol, but it can wax and wane. Pre-disposing factors is
steroids around the area, and how many of our kids
are on intra-nasal steroids, or inhaled corticosteroids
if they have asthma. So think of that mask, a face there with mask, as an offender. And then, to be frank, sometimes you don’t know what it is, you think it might be eczema so you’re like, let’s put some steroids on this and– (growls) it gets really upset. The treatment, topical antibiotic gels like metronidazole gel
or a topical Clindagel can be effective. Sometimes it flares the rash
before it makes it go away, which is hard for the family to see. And you can use systemic treatments like doxy cycling at acne
doses over a couple of weeks, or Azithromycin at pneumonia dosing, and it will melt the rash away. If it fails the first line treatments, you should refer for further guidance. Certainly some of these bother the parent more than the kid, but I definitely see a lot of kids scratching and really
bothered by the rash, so that’s something that I like to treat. Especially if I see excoriation marks. This, I find very interesting. It’s not that there’s higher concentration of calcium in the sweat channels of people
with Down Syndrome, which might lead to
sweat duct calcification, which leads to these
milia-like calcinosis cutis, which are these small,
discreet white papules that look like milia but are more firm and like look chalky, like
there’s calcium in there. Usually, they’re asymptomatic, they’re not bothering anyone, someone might think they’re a wart and get real freaked out by it. But otherwise, they’re
not that bothersome. And no treatment is necessary unless they’re painful
and if they’re painful they can be curetted. And they shouldn’t be
confused with milia milia, like those seen in under the eye in the picture below. But either way, you’re
not gonna do much about it other than re-assure. Syringomas are similar to milia, but they’re small, flesh colored, yellow-brown dermal papules. And in our individuals with Down Syndrome are very often seen in the eyelid and that’s actually much,
much, much more common to be seen under the eyelids
than in the general population. There’s a female pre-dominance, as reported in this very
recent study from 1964, and there’s an association with the milia-like calinosis cutis, so wondering if it’s some sort of similar pathogenesis to it. They’re not easy to treat, and they don’t bother
anybody other than the child if they don’t like how they look, or the parent if they
don’t like how they look. So I would say refer only if the kid is bothered by it. Because it the kid is bothered by it then we should treat it, right? If someone is having self
esteem and image issues related to these, then, you know, just like
we would for anybody else, we should refer, but if nobody else
cares, then leave him be, because the treatment is electrocoagulation, cryotherapy. And neither of those feel great. Vitiligo consists of de-pigmented, generally well demarcated areas. Not hypo pigmented areas. So it’s not just lighter than the skin, it’s like, white. The estimated prevalence is two percent, as opposed to one percent
of the general population. There is an association
with hypothyroidism, so I do check TSH and free T4 and even the antibodies. And kids will come in with vitiligo as well as alopecia areata. They will light up brightly
under Wood’s light, as shown in this picture. And in terms of treatment,
it’s difficult to treat. You can start with topical steroids, like 0.1 percent triamcinolone. Maybe even lidex, and
then you might need to add a topical tacrolimus, and then light therapy is very effective, but talk to Dr. Howard for two minutes to get to hear what light therapy access is like in our area. Non existent. Sorry, I spoiled it. This is something that should be referred, because we’re talking
about big gun steroids, big gun immunosuppressants,
like tacrolimus. The focus of treatment is generally more on the
face than on the body, and I think that part of
the focus of treatment is also acceptance. And positive body image type messaging, because it is hard to treat, and it’s unlikely that
we’ll be able to make all these spots go away. So feeling comfortable
with them is important. And then some people use makeup to cover them up if they’re
not comfortable with them. There’s famous models with vitiligo. If you want to look at awesome pictures, look up Positive Exposure
by Rick Guidotti, a famous fashion photographer who decided to start photographing individuals with all
different genetic conditions in a way that’s respectful, as opposed to the textbook pictures with the eyes blocked
and the genitals visible. Alopecia areata is also more prevalent in individuals with Down Syndrome than in the general population. There’s a possible female predominance. Again, there’s an association between genes that live on the 21st chromosome and alopecia, specifically MxA, the product of MX1 gene, which is an interferon inducible protein, that is strongly expressed in
the lesional anagen hair-bulbs from patients with alopecia areata. It is associated with vitiligo, thyroiditis, hypothyroidism,
trachyonychia. So again, if I see it, I check thyroid levels
and thyroid antibodies. It tends to be more severe in individuals with Down
Syndrome and harder to treat. Topical steroids are the first line, but you should refer. I don’t think you should hold off on starting topical steroids as you refer, because I told you to start. Because Dr. Howard told you to start. But do refer, because again,
this is hard to treat. The next three things I’m gonna talk about are related to weight, which takes me on a tangent. Please do not use the Down
Syndrome growth curves to evaluate for obesity in
individuals with Down Syndrome. Growth curves are normative
curves, like, you know, take the bell curve and
turn it into curves. So if there’s a condition that’s prevalent in fifty percent of the population, then what will look 50th percentile and average on that growth curve is actually gonna be obesity and you’re gonna miss obesity. So please, please, please, use the CDC growth curves when evaluating weight and BMI for individuals
with Down Syndrome. Newer studies from Children’s
Hospital of Philadelphia suggests that the 85th percentile for BMI in individuals with Down
Syndrome actually represents obesity, based on different
fat distributions. Acanthosis Nigracans starts as flat hyperpigmentation,
and then becomes velvety. It’s often seen in the back of the neck, also in the armpits. Many patients think that the kid is dirty, and really it’s a skin change. It’s associated with insulin resistance, and we have to think about that because the incidence
of diabetes mellitus, both type one and type two, is higher in our patient population of individuals with Down Syndrome. There’s a really high prevalence of being overweight and
obesity, as I just said. And then newer studies are showing that actually an extra copy of the DSCR1-4 gene
from the 21st chromosome actually leads to
dysregulated hepatic glucose homeostasis and pyruvate intolerance, which is likely what explains the higher incidence of non-alcoholic fatty liver disease in our individuals with Down Syndrome, so I am strict about sugar. At our parties, there’s
no juice, there’s no soda, there’s just water. And I talk to everybody
about limiting sugar intake and not rewarding with food. Because of these issues. You don’t have to refer to dermatology for acanthosis, but maybe consider referring to nutrition, consider referring to endocrinology. I follow a skinny-mini
who’s had acanthosis for a couple of years and I’m watching her A1C rise and I think she’s gonna reveal herself as a type one diabetic soon. Hidradenitis is another condition that’s made worse by
being overweight or obese. They’re inflammatory pustules, nodules, and abscesses that are often seen in
the armpits, the groin, and sometimes the inframammary region. And they are not infections, per se, they’re not the boil that you lance and then you solve the infection. They are related to an
inflammatory reaction to bacterial skin colonization, so we can not take the blame completely away from Staph, but unfortunately you won’t be able to treat it forever just by lancing them
or giving antibiotics. And if not treated promptly, they’ll lead to fistulous tracts, and become much, much harder to treat. The incidents in individuals
with Down Syndrome is higher than in the general population, and we do have a UCSF study going on right now on hidradenitis. The age of offset is younger. Hidradenitis has a clear
female predominance in the general population. I have not seen studies
specific to Down Syndrome, but again, because there’s
a genetic underpinning, I suspect that that female predominance might not be quite as marked. Treatment, part of it is
weight loss, because again, this is exacerbated by
being overweight or obese. Topical cleanser, diluted bleach baths, the skin colonization
measures, are important. You can start with topical
clinda for mild disease, and see if that words. Systemic treatment with, like, taking doxycycline or
clindamycin all the time might be needed to control. These antibiotics both
control the bacteria, but also have, on their own right, anti-inflammatory properties that help control hidradenitis. If that fails, you might need to use a combination of rifampin and clindamycin. Oh, my goodness. And then really, really
good results with Humira. And at a recent talk
that Dr. Nicole Kittler, one of the new UCSF dermatologists gave at our Grand Rounds in Oakland, she actually recommended
referring early for dermatology, because I think sometimes
we beat around the bush and let this get out of control, when this could’ve been
ameliorated a lot earlier with immunologic treatment. I have a patient with hidradenitis, and we tried the wipes,
wouldn’t tolerate them. Tried topical, wouldn’t tolerate them. Tried antibiotics, wouldn’t tolerate them. And I was like, you know, mom, I think that we might
need to go to injections, and I was floored, she was like, please give me injections,
I don’t want to fight with him all the time, just once a week is so much better. Also, forget your biases, because parents might feel
very differently from you about escalating treatment. Psoriasis also has an
association with weight. Psoriasis is a chronic
inflammatory skin condition, characterized by clearly
defined, red scaly plaques, with the Auspitz sign
where it like, it bleeds if you scratch it, right? Okay. And you should look for
it in the scalp as well. Actually that’s where I see it the most. I don’t have as many patients who have scalp psoriasis elsewhere, the majority of my patients
have it on their scalp. And if it’s just on the scalp, keeping the hair short and
using things like tar gel and ketoconazole shampoo can control it often, sometimes we do have to
use topical steroid lotions as well on the scalp, but keeping the hair short,
especially for the males, and those other two measures
are quite effective. If it’s on the skin, then the treatment is more intensive. It involves a high
potency topical steroids, vitamin D ointments, Dr. Howard
will talk more about that. And the deferential includes seb derm, crusted scabies, other things. But this is something you should refer. Doesn’t mean you can’t start treatment, especially if you have a wonderful dermatologist like Dr. Howard, who will answer you at all
times of the day and night, but this is something
that should be followed by a dermatologist. A word on oral manifestations. Macroglossia, sometimes
kids have a big tongue, and sometimes the tongue just looks big because the oral cavity is small. The tongue can be fissured, it can be geographic and
this is super common, and it’s not scary, and I just reassure. Lip fissures and a lot
of angular cheilitis, I think that has something to do with that impaired killing,
fungal killing on the skin. It’s quite common, and the treatment is some
topical lotrimin at first, and then you can add a
little hydrocortisone. After a couple of weeks. You don’t want to put steroids right away on something that’s thought to be fungal, otherwise the fungus
is gonna throw a party. You don’t have to refer unless the cheilitis develops
some sort of granuloma, because of picking or touching
or excessive inflammation. A word about institutionalization
in dermatology. When you read these articles about dermatology in Down Syndrome, it talks about high rates of
onychomycosis, and scabies, and the question is, well, is it truly because of an inherent thing with Down Syndrome? Or is it because you studied patients in an institutionalized setting where things like scabies
can spread like wildfire? What we do know about scabies is that individuals with Down Syndrome are more likely to have a crusted scabies type of presentation, and one of the thoughts is that maybe they feel the itching a little bit less due to the differences in sensory perception and processing. And that could lead to more wide spreading of the scabies mite. I did it. So thank you for your attention, and we’ll answer questions together after Dr. Howard’s talk.


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