Clues to missed diagnoses

The brain and eyes are a dermatologist’s best diagnostic tools. But what happens when it’s your first exposure to a condition? Solving the mystery was part of the session, “You May Not Have Seen It, but It Has Seen You: Commonly Missed Diagnoses in Dermatology” (U058).

Sadaf Hussain, MD, and Hye Jin Chung, MD

Hye Jin Chung, MD, and Sadaf Hussain, MD, summarized 10 cases representing commonly missed diagnoses and conditions within the pediatric and adult dermatology populations. They provided dermatologists with clues for recognizing relevant systemic associations with some of the conditions. Take, for example, capillary malformation-arteriovenous malformation syndrome. In this case, a baby presented with red spots on the abdomen and back. The spots were present at birth and the family had no history of strokes or neurological conditions.

“This is more common than you know,” Dr. Hussain said. “This is caused by a RASA1 mutation. AVMs can be present in the brain, spinal cord, skin, bone, and muscles in one-third of patients with this diagnosis. It is an autosomal dominant condition, which means it could impact other family members. So you can see that the dermatologist’s recognition and diagnosis of this could be really important to the child’s overall health.”

In another case, the session spotlighted a rusty-colored subcutaneous nodule on a toddler’s left cheek that increased over time. The patient was asymptomatic and free from trauma, family history, and other rashes. The diagnosis: idiopathic facial aseptic granuloma. It typically occurs in early childhood. There is no known cause, and it typically clears up without scarring in a year’s time.

The session also spotlighted a 34-year-old female presenting with vascular mottling on her arms since childhood. Her lesions were asymptomatic, there was no family history of related symptoms, and her labs were negative. Dr. Chung conducted two biopsies and determined it was angiospastic macules. Often associated with pregnancy, the condition can sometimes be associated with renal crisis that disappears when the crisis is treated. Other medical conditions associated with this diagnosis include deep vein thrombosis (DVT), coarctation of the aorta, hypoplasia of the aorta, tachycardia, insomnia, CM-AVM2, and palmar hyperhidrosis.

Another case consisted of a baby presented with an itchy rash over his abdomen, face, trunk, extremities, and diaper area. No one in the family had it. The diagnosis was eczema coxsackium. In this case, the baby was exposed to hand, foot, and mouth disease. Dr. Hussain said the rash can be overwhelming to examine, recommending physicians find one isolated lesion to examine. It would be important to check the baby’s stool for the coxsackium virus. With gentle skin care and a topical steroid (not always necessary), the rash typically disappears in four days. The virus continues to shed in the stool, exposing caretakers to the virus.

In other cases, Dr. Hussain and Dr. Chung highlighted molluscum dermatitis in a pediatric patient. It is often associated with eczema and has become more common in children. It is associated with Gianotti-Crosti lesions and molluscum contagiosum abscesses. The session profiled a case of weathering nodules of the ear, a cutaneous condition often related to aging and UV light exposure, and a case of acanthosis nigricans. This condition, which can present as a darkening of the knuckles, is commonly associated with insulin resistance and can be misdiagnosed, believing the patient came into contact with a dye.

One of the more unique cases spotlighted during the session included mysterious, distinct, geometric lesions on two friends. The lesions were the result of having participated in the “salt and ice challenge.” This teenage practice involves applying salt to the skin and covering it with ice. The challenge is to leave the ice on as long as possible. Essentially, it causes frostbite to the area and burns.

“This was really a diagnosis made through a conversation with the patient,” Dr. Hussain said. “I asked how school was going and then I asked if they had ever heard of this challenge. Eventually, we got to the bottom of it. Depending upon how much damage has occurred, it may only need a special dressing.”

Similarly, Dr. Hussain profiled the case of a toddler who presented with an eruption around her mouth and lips. After some investigation, the diagnosis was suction purpura, the result of the toddler putting tight objects around her mouth and creating a suction effect. Dr. Hussain said it’s similar to cases she has seen of teens who partake in the Kylie Jenner “lip challenge,” cupping, or exposure to EKG leads.

Perhaps the most interesting case spotlighted during the session was a case of an adult male presenting with a tiny, blue circle on his chest. After dismissing a tattoo and other possibilities, the diagnosis was circle hair. Common in patients with a lot of body hair, it occurs when coiled hair gets trapped beneath the skin. It is almost perfect in shape and can easily be overlooked.


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