Guidelines Presented on Managing Genetic Skin Disorders and Referring Patients

The 2025 Society of Dermatology Physician Associates (SDPA) Fall Conference in San Antonio, Texas, featured a session presented on November 6, titled ‘The ABCs of Genetic Disorders of the Skin: Guidelines for Recognition and When to Refer.’1

This session was presented by Yasmine Kirkorian, MD, the chief of the Division of Pediatric Dermatology at Children’s National Hospital (CNH). It involved a review of commonly observed genetic syndromes with cutaneous manifestations such as tuberous sclerosis, neurofibromatosis type 1, and others. During the talk, Kirkorian would emphasize the recognition of skin findings leading to a referral to a geneticist or a specialty clinic.

“You sort of have to know why you would even be thinking of a genetic skin disorder that's going to be based on the physical exam and on the child's development, both growth and other milestones,” Kirkorian said. “One look specifically, since we are in dermatology, at the cutaneous features of various syndromes, and we're going to look and break it down by those that are hyperpigmented, hypopigmented, and those that have other features that we'll go into.”

Kirkorian highlighted a variety of tips for clinicians in diagnosing genetic disorders impacting the skin, noting the importance of respectful engagement and communication with parents and children in discussing such matters.

“Even if we're not overtly talking about that, if we are thinking about a genetic condition, it's important to take a very thorough family history, especially considering consanguinity, which is more common than you think,” Kirkorian said. “And it may seem uncomfortable. How do you ask that? So I usually say something like, ‘Are you related in any way, such as cousins?’ I ask everybody this, and it is generally well accepted.”

After these questions, Kirkorian noted, a full exam may be conducted, including an assessment of the child’s growth. If it is not conducted by the clinician, outreach to a pediatrician to inquire about growth may be warranted.

“We're going to look at their facial features and then certain specific cutaneous findings that would suggest a syndrome,” Kirkorian said. “Okay, so what does dysmorphology mean? Dysmorphology is the actual scientific study of how human features generally appear or when they differ from normal. And we're not gonna go in great depth about it, but just understand that there are like, literal measurements that geneticists are doing to look at if an ear is low or not, if the eyelids or eyes are wide-set or not, and so on. Often, the face is broken up into an upper mid face, upper face, mid face, and lower face.”

Kirkorian went on with her presentation, showing attendees some examples of syndromes that one could come across, in which such parts of the face may be affected. Over the course of her session, Kirkorian sought to help attendees recognize cutaneous findings related to genetic syndromes like hyperpigmented cutaneous lesions and neurofibromatosis (NF) type 1.

“The majority of children that I've diagnosed with NF 1, which is many, because they do come in, have a lot of ‘Cafe au lait syndrome’ at birth,” Kirkorian explained. “So it's important to understand that neurofibromatosis is pretty common. I’ve seen adults with it, and you might see people on the street with it. If they're undiagnosed, it's not great, because there are a lot of different findings that may have health impacts, such as hypertension, optic tumors, etc. So our goal is to recognize people with multiple ‘Cafe au lait’s and then get them to genetics.”

To learn more about topics in dermatology presented at the 2025 SDPA Fall Conference, view our site’s latest conference coverage.

The quotes used in this session summary were edited for the purposes of clarity.

References

1. Kirkorian Y. The ABC's of Genetic Disorders of the Skin: Guidelines for Recognition and When to Refer. Presented at the Society of Dermatology Physician Associates (SDPA) Fall Conference, November 5-9, San Antonio, TX.