“Missed” diagnosis
Discussion of educational gaps and sharpening the clinical eye.
Even with years of training and experience, the best dermatologist can still miss a diagnosis that’s often hiding in plain sight.
Sadaf Hussain, MD, FAAD, attending physician and residency site director of the dermatology program at Boston Children’s Hospital, said the most missed diagnoses in dermatology often fall into one of three patterns — conditions not seen during dermatology training, diagnoses with differing features in skin of color, and novel diseases either unnamed, unidentified, or non-existent in the past. Dr. Hussain led a discussion of each and more during Friday’s session, F004 – You May Not Have Seen It, but It Has Seen You: Commonly Missed Diagnoses in Dermatology.
“In pediatric dermatology, there’s a broad range of exposure to pediatric patients in dermatology training programs. So, if you’re not seeing very many children, you’re just not going to know about specific conditions or morphologies unique to this population,” Dr. Hussain said. “Almost every trainee has seen an infantile hemangioma but not everyone has seen a segmental one on the lumbosacral spine, which would require a more significant workup. Not recognizing systemic associations can lead to significant morbidity.”
Looking for differences
Another common area of missed diagnoses is conditions that manifest differently in different skin types.
“In people with skin of color, inflammation may not present as pink, red, or ‘erythema.’ It can look more violaceous, brown, or even be most recognized by epidermal changes like scaling. So, if you’re not used to color cues in people with skin of color, you’re going to miss even very common diagnoses,” Dr. Hussain said. “Even just based on biases of regional training or textbook photos, we may overlook certain diagnoses in certain ethnicities.”
For example, Dr. Hussain said, in cases of rosacea, dermatologists commonly consider a fair-skinned person to be of Irish descent because of the rosy cheeks. But rosacea happens in all ethnic types. Dermatologists must train their eyes to detect that, she said.
Check all the boxes
As for novel diseases, lack of exposure can make these easy diagnoses to miss. Reading a case report may provide some information. However, seeing it in clinic adds depth to diagnosis. Often, the root cause of many missed diagnoses boils down to education, she said.
Dr. Hussain added that sometimes dermatologists encounter a condition they’ve never seen before or they observe it in a new context. Sometimes, they may have seen the disease but never had a name for it. Additionally, there are conditions that are just being discovered or that may have been around but are just now getting the attention they deserve, she said. An example of this, she said, is reactive infections mucocutaneous eruption, or RIME.
“Ten years ago, we didn’t have that as a term; we didn’t even know of it as a disease,” she said. “But I think a lot of practitioners who take care of people under the age of 18 see this fairly commonly.”
Copycats
And then there are mimickers — diseases or conditions that can appear like other diseases or conditions. Dr. Hussain said one of the most common mimickers in dermatology is cutaneous t-cell lymphoma (CTCL), which is very commonly misdiagnosed as eczema or psoriasis.
“Of course, CTCL is a cancer so diagnosing it is important,” she said, “but it takes on a new level of importance when we look at the use of biologics. Dupilumab is a great treatment for atopic dermatitis, but if you give it to somebody with CTCL you could accelerate their disease which can be fatal.”
Dr. Hussain was joined by panelists Hye Jin Chung, MD, FAAD; Jonathan Ho, DSc, MBBS; and Cecilia LaRocca, MD, FAAD.
