Teen with unexplained pain, rash, bruises suddenly couldn't walk | Medical Mystery

The bruises didn’t make sense. Neither did her pain. A 16-year-old female came to the emergency department suddenly unable to walk. She had rolled her ankle about a month earlier, but now was experiencing significant pain, along with a rash and bruises all over her legs. She said the rash and occasional bruising had been present over the past two years, but she could not identify a specific pattern and thought the rash was just from shaving.

In the emergency department she was awake, alert, and oriented. She appeared to be a normal weight and was developmentally appropriate for her age. Extensive bruising was noted on the back of her legs and buttocks. She had stretch marks on her lower extremities, but none on the upper extremities. Her rash appeared to be centered around her hair follicles, a condition called perifollicular petechiae.

The physician ordered blood tests and an MRI and admitted her to the hospital for further evaluation since she couldn’t walk. Her MRI revealed generalized fasciitis — inflammation of the muscles which is often attributed to infection. But in her case, there were no secondary signs of infection, such as fever or elevated white blood cell count.

Many different diagnoses can cause symptoms of joint pain and rash. Infectious causes such as sepsis (blood stream infection), tick bite infections including Lyme disease and Rocky Mountain spotted fever, and viral infections such as hand, foot, and mouth disease can present with rash and joint pain. However, infections are usually associated with a fever, which this patient did not have.

Rheumatologic (autoimmune) conditions such as lupus, vasculitis, and dermatomyositis can also present with joint pain and rash. Rheumatologic conditions occur when the body creates antibodies that attack the patient’s own cells. These can be more insidious and tend to develop over time rather than all at once.

Other causes of rash and unexplained bruising include nutritional deficiencies such as iron, copper, zinc, vitamin D, and vitamin C. Patients should be evaluated with a detailed dietary history if there is any concern for nutritional deficiency.

Physicians from numerous subspecialties weighed in on this case, conducting many tests. Finally, the patient was asked to produce a detailed dietary history. She revealed a very limited intake consisting of only five foods, without any vegetables, vitamins, or minerals. The patient was diagnosed with avoidant restrictive food intake disorder, or ARFID, which had caused a vitamin C deficiency also known as scurvy. The patient underwent nutritional rehabilitation to correct her nutritional deficiencies, and anti-inflammatory medication was used to help with her pain. Her pain gradually improved, and within a few weeks she was back to walking like normal.

According to the American Academy of Pediatrics, ARFID is a relatively newly recognized eating disorder in which patients severely limit their food intake. This restrictive diet is not due to lack of access to food, and it is not due to negative body image or desire to change one’s body like some eating disorders. Patients with ARFID often avoid foods due to their color, smell, texture, temperature, or taste. Patients often have “safe foods,” or only a few foods that they will regularly eat. This can lead to nutritional deficiencies like our patient experienced.

Scurvy is often thought of as a disease sailors suffered from centuries ago. But in this case, it was masked by a modern eating disorder in an otherwise healthy teenager. The classic signs of scurvy include dry, brittle, and coiled hairs called corkscrew hairs, rashes around hair follicles, and gingival (gum) bleeding. Severe leg pain has been documented in prior cases of scurvy, and scurvy has also been known to mimic rheumatologic conditions. This case highlights the importance of considering scurvy, even in patients with normal growth. Early identification and correction of vitamin C deficiency are essential for a full recovery. Treatment includes vitamin C supplementation, dietary modification and counseling, and feeding therapy.

Katherine Musto is a second year pediatric resident and Hayley Goldner is a pediatrician in the adolescent medicine department at Nemours Children’s Hospital, Delaware.