Can you discuss some of the latest discoveries that have evolved concepts of pediatric skin conditions?
Dr. Eichenfield: The utility of propranolol for hemangiomas of infancy has been a “game-changer” in minimizing the deformity and secondary complications of these common birthmarks. Within a few years since the observation of propanolol being utilized for secondary hypertension for corticosteroid- induced hypertension causing rapid hemangioma regression, there has been tremendous experience and large international trials, showing incredible efficacy and apparent safety. Other questions remain, including the role of topical beta-blockers and other systemic beta-blockers, whether there are any not yet perceived neurologic issues with longterm use, and the specific management issues of premature and low birth weight infants.
The breakthroughs in genetic techniques are rapidly changing our perspective on birthmarks and related syndromes, many of them now shown to be somatic mutations. The concept is that mutations happen in cell lines at different times (post-zygotically) of development, and depending upon timing and the lineage of those affected cell lines, many of our birthmarks appear, with or without associated findings. For instance, port-wine stains and Sturge-Weber syndrome (SWS) have been shown to be due to mutations in the GNAQ gene, with the mutations found in port-wine stains in patients with and without SWS, and in brain tissue of SWS patients with CNS disease, but not in other CNS vascular malformations.
Similarly, nevus sebaceous has been associated with HRAS and KRAS mutations, with some patients having “hits” in multi-lineage cells that can affect bone or pigment cells, as in the Rickets/nevus sebaceous and speckled lentiginous nevus syndrome patients, AKA phacomatosis pigmentokeratotoica. We will continue to have our genetic diseases “cracked” as whole exome and next generation sequencing become standard approaches to diagnosing our affected patients. The hope is these will lead to directed therapy to minimize their impact on affected individuals.
How would you describe the role of communication in counseling and treating patients?
Dr. Eichenfield: We are nothing if we are not educators, and great diagnoses and therapeutic plans don't work unless they are effectively transmitted to patients and their families. There are many different styles and approaches, and part of what expert clinicians do in each room is assess what a family needs, not just in terms of prescriptions, but in terms of discussion so that they understand their child's conditions and how to effectively treat them. Pediatric dermatology has its challenges and rewards! We have to appeal to the children and the parents. From the child's perspective, they are happy with a Spiderman or princess sticker. The parents expect more; they need to be listened to effectively, and taught effectively, to really get the most out of a visit. I like to use all kinds of “tools” to help communicate our information, including handouts, customized care plans, web materials, video-training modules, and apps. And then I like my nursing staff to come in and reinforce the teaching (That's often the real learning time!).
What's been the most rewarding aspect of your profession and helping children with skin diseases?
Dr. Eichenfield: I am fortunate to love what I do, to love my staff and co-workers, and to enjoy the relationships I build with my patients and their families! Our successful work lasts a lifetime for a child, so it is easy to feel the rewards as we see our “former babies” go off to college and beyond. Just as rewarding is seeing former trainees, the incredible students, residents, and fellows, now spread out around the world, contributing to bettering the lives of children with skin diseases. It makes me and my staff proud to have contributed to their “pediatric development.”