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    Recognizing cutaneous genetic disorders

    If it swims like a duck, walks like a duck, and quacks like a duck, it’s probably a duck. Except when maybe it’s not. Occasionally, patients present with common complaints that are just enough out of the norm to suggest something from the gene pool, not the duck pond.

    READ: Clinical pearls in pediatric dermatology

    James Treat, M.D., assistant professor of pediatrics and dermatology, University School of Medicine, Children’s Hospital of Philadelphia, always has his radar primed to those little blips that may indicate cutaneous genetic disorders. He presented on the topic in “Pediatric Dermatology 2015” at MauiDerm2015.

    Dr. Treat believes that dermatologists are in a unique position to identify unusual cutaneous findings and help make a genetic diagnosis. He’s also quick to point out that the study of genetics is a frenetically expanding field, making it virtually impossible for anyone to memorize all genetic diseases. So he uses a set of four questions that can help alert the clinician that a dermatologic complaint can be associated with a genetic syndrome.

    • Does the patient have other medical problems/two or more unusual findings?
    • Is there a family history of similar findings?
    • Is the child developing normally?
    • Does the child have dysmorphic features?

    “If any of these things ring as ‘yes,’ then you might be looking at a genetic disorder,” Dr. Treat says. “There’s no reason that several family members should have unusual dermatologic things going on unless there’s a genetic basis for it or some infectious basis.”

    READ: Advanced genetic testing paves way for personalized medicine

    If a patient has an unusual presentation of typical problems — warts, for example — it warrants further investigation.

    “You’ve seen so many normal presentations of warts that when you walk in and you see a patient who has warts covering the entire hand or the entire foot, you can recognize this as unusually exuberant,” he says. “This patient may have an immune disorder which could be genetic. For instance, this could be the initial presentation of a DOCK8 mutation or of WHIM syndrome.  It’s incumbent upon you to ask a few more questions. If you have a ton of warts, and there’s something else going on with the child also, it may be a genetic syndrome,” he adds. “If the diagnosis is in doubt, ask your unusual feature questions.” 

    • Does the patient have other unusual findings?
    • Are there other medical problems that run within the family?
    • Is the patient developing normally?

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