Q&A: Diagnostic and Therapeutic Pearls for Pediatric Dermatology

Anthony J. Mancini, MD, FAAP, FAAD, is a pediatric dermatologist in Chicago, Illinois. He is Chief of the Division of Pediatric Dermatology at Ann & Robert H. Lurie Children’s Hospital of Chicago, and Professor of Pediatrics and Dermatology at Northwestern University Feinberg School of Medicine. Mancini also serves as Associate Program Director for the pediatric dermatology fellowship program at Lurie Children’s.

Dermatology Times recently spoke with Mancini to discuss highlights and pearls from his presentation at the 2024 Society for Pediatric Dermatology Annual Meeting in Toronto, Ontario, Canada, “Quick Hits – Diagnostic and Therapeutic.”

Mancini, presenting alongside Denise W. Metry, MD, presented case-based vignettes and clinical pearls for pediatric dermatology.

Q&A

Dermatology Times: Could you share some highlights from your conference session, "Quick Hits - Diagnostic and Therapeutic?"

Mancini: In this session, I will present (along with Dr Denise Metry) several brief case-based vignettes that demonstrate useful clinical pearls in the diagnosis and treatment of dermatological disorders in children. The session is meant to be a high-yield, “rapid fire” approach to offering insights from two seasoned practitioners of the specialty. Each vignette will be tied to an overarching summary recommendation.

Dermatology Times: What are some key takeaways or pearls of wisdom that you hope attendees will take away from your session?

Mancini: Be open to off-label treatments and disseminate your findings.

I highlighted that off-label therapy may seem counterintuitive, but studies have demonstrated that in clinical practice, 20-40% of prescriptions are for off-label indications. Importantly, it is occasionally these experiences which inform future prospective clinical trials, and in other instances, off-label treatments may evolve to become the standard of care. Disseminating our findings may not only help encourage further study but offers another therapeutic strategy to colleagues.

I highlighted 2 examples from my own practice:

1. On the heels of some case reports of topical calcineurin inhibitors (TCIs) for pediatric periorificial dermatitis, and given my own clinical experience, we decided to study outcomes in a larger cohort. One of our fellows retrospectively reviewed all the patients treated in our center with these agents, and demonstrated good efficacy and safety. TCIs have subsequently become a standard of care with physicians in my practice and many others, both as monotherapy and in conjunction with oral antibiotics, when more severe.
2. Given frustration with the low treatment efficacy in erythema annulare centrifugum, as well as reports suggesting possible hypersensitivity to Malassezia or Candida as a potential etiology for this condition, I tried using oral fluconazole in several children with the condition (along with topical corticosteroids). It was noted that this combination was quite effective, and two of my fellows worked with me to publish this in the literature.

Consider surrogate diagnostic markers.

I discussed how the use of such surrogate diagnostic aids may not only augment our clinical findings but can help to expedite the diagnosis and may minimize the need for other studies, some of which may be more invasive (for instance, skin biopsy in the young child). I showed the case of a 10-month-old male who presented with 4 days of fever and new scalp nodules that were pink to violaceous in color. I realized right away that this was likely not going to be a good sign, and my strongest concern was for leukemia with skin metastases. Instead of performing a skin biopsy, I sent a STAT complete blood cell count, along with LDH and uric acid. Within a couple of hours, the diagnosis of leukemia (with circulating blasts in the peripheral blood) was strongly supported. Bone marrow biopsy that evening confirmed the diagnosis of acute myeloid leukemia. Another child I shared was an 8-week-old female who was referred for multiple scalp pustules that had already cultured out S aureus, but were recurrent despite antibiotic therapy. I noted not only multiple follicular pustules, but a very coarse facies that suggested to me perhaps she had something else going on. I sent off a CBC to assess for eosinophilia, as well as an IgE level. Both were markedly elevated, and subsequentgenetic testing confirmed my suspicion of hyperimmunoglobulin E (hyper IgE) syndrome.

Don’t forget simpler therapies.

I noted that in the era of newer, expensive, and highly-efficacious treatments, there may still be a role for the “tried and true.” These treatments may be older and “non-sexy,” but they are often readily available, inexpensive, and in many cases, very effective. I highlighted two such options, one of which is a “parent-mixed” steroid/emollient compound which may be useful for the “background noise” of diffuse or erythrodermic atopic dermatitis. I also discussed the utility of LCD (liquor carbonis detergens, an older tar derivative preparation) compounded into a mid-strength steroid ointment for the patient with diffuse guttate or plaque psoriasis. This may give these patients something to start in the interim that is soothing and anti-inflammatory, while they ponder the next steps in more definitive systemic therapy.

Stick to your guns.

I shared that diagnostic studies may occasionally fail us by giving false negatives; also, medical knowledge evolves so repeat testing may occasionally be indicated. I stressed the value of time and clinical follow up when trying to confirm a challenging diagnosis.I reviewedthe case of a 7-year-old male who presented with skin lesions on the fingers and toes (felt clinically to be consistent with pernio, which was subsequently confirmed by skin biopsy), along with a history of JIA, synovitis, abnormal gait, heel cord contractures and hoarseness. Despite lacking a history of developmental regression, delays or spasticity, I was suspicious of Aicardi-Goutieres syndrome (AGS), and figured this would be confirmed on the whole exome sequencing (WES) which was already in progress.When this returned with only a few variants of unknown significance, and given my ongoing concern for AGS, I asked for a WES re-analysis and gave the lab clinical information about the patient. This repeat testing uncovered a pathogenic homozygous partial gene deletion of SAMHD1, confirming the diagnosis of AGS.

Sometimes the best treatment we can offer is an ear and a shoulder.

I ended by reminding the audience to never underestimate our “non-medical” resources, including longitudinal follow up, the provision ofhope, and the power of the patient-family-physician triad. I shared the case of a 3-week-old baby girl with a giant facial hemangioma. While her PHACES evaluation was negative and her family was reliable in giving her the prescribed therapies (oral propranolol with the subsequent addition of oral corticosteroids), her hemangioma continued to proliferate and largely distort her face. I stressed that “at that point, my role was mostly limited to offering anticipatory guidance, hand-holding, and continued doses of optimism,” hoping that things would eventually improve. By 5 years of age, the hemangioma showed drastic improvement, with restoration of most of her facial symmetry.I ended with the case of a newborn male with a congenital giant vascular malformation of the entire lower extremity. I knew the moment I walked into that NICU that this would be the start of a very long-term relationship. I shared how my patient went through many challenges, including cellulitis episodes, thromboses, pulmonary embolism, hemorrhages requiring transfusions, coagulopathy, and osteonecrosis. He also endured multiple surgeries, sclerosing procedures, and medical therapies. But the one thing he always maintained was an upbeat, positive attitude and a smile. None were as big, though, as the day when he came in to share with me that he had been accepted to Caltech with a full ride to study mechanical engineering!

I ended by summarizing: “Medical school teaches us how to diagnose and treat disease. But listening, advocating and empathizing may be what we can offer. Remember: the outcomes can be equally rewarding.”

Dermatology Times: How do you balance the challenges of diagnosing and treating pediatric dermatological conditions with the unique needs and concerns of young patients and their families?

Mancini: I always try my best to put myself in the family’s shoes. As a parent, it is easier to empathize with health anxieties surrounding your children. I always remember that something that may seem minor to me may be a huge hurdle for that family. A treatment that may seem like a no-brainer to me may be very scary to them. I try to teach my trainees that you need to use the first 30-60 seconds in that room to assess how much that family needs, and what they need. Every patient/family unit is different, and this is, in a sense, a type of personalized medicine that we can offer to each of them.

Dermatology Times: In pediatric dermatology, what emerging diagnostic techniques or therapeutic interventions do you find most promising?

Mancini: There is so much that is exciting in our field. We continue to see an explosion of newer therapies for inflammatory diseases. We are learning much more and armed with many more treatment options for our patients with vascular conditions. We are seeing the approval of novel therapies for conditions that never had anything approved (such as epidermolysis bullosa, vitiligo, and alopecia areata). It is a very exciting time in pediatric dermatology, and the future looks certain to hold more opportunities for us to do what we all are here to do: help our patients live happier and healthier lives.

Dermatology Times: Looking ahead, what aspects of pediatric dermatology are you particularly passionate about exploring or advancing in your career, and why?

Mancini: My career foci have really evolved over time. When I started, my clinical and research interests lied primarily in the field of premature infant skin development and barrier maturation. I then developed an increasing interest in atopic dermatitis and infantile hemangiomas, the latter of which has been an incredibly rewarding clinical research path, and one made possible by the many collaborations with my brilliant colleagues in the field. While I continue to participate in clinical research in the field of vascular anomalies, another interest that has marked my career has been that of medical education, especially as it pertains to pediatric dermatological education of not only our own fellows in the specialty, but also of pediatricians and pediatric trainees. Teaching and partnering with our colleagues in primary care areas has been extremely rewarding for me, and by working together (and especially given the workforce challenges we continue to face), we are able to offer more to our patients and their families. My hope moving forward is to continue contributing to science and education, and to impart to my mentees the values of perpetual learning, work/life balance, scholarly dissemination and, most important in my book, prioritizing family.