Skin nodules reported for first time in EDS in case of young woman
Treatment sought for multiple purple nodules ID’d as dermatofibromas
A first case of dermatofibromas — benign and firm skin nodules, often darker than the patient’s skin color — has been reported in Ehlers-Danlos syndrome (EDS) in a young woman in Iran.
“To our knowledge, this combination of findings is a previously unreported occurrence,” the researchers wrote in a case report.
The patient, an 18-year-old Iranian woman, had sought treatment at a clinic in her country for multiple purple nodules that had appeared on a leg about two years earlier. She was found to have hypermobility in her joints and stretch marks on her legs, which led to a diagnosis of EDS.
While the woman refused diagnostic testing, the clinicians suspected classical Ehlers-Danlos syndrome — and noted that no studies had previously described the occurrence of dermatofibromas in a case of EDS.
The case report, “Multiple dermatofibromas in a patient with Ehlers–Danlos syndrome: a case report,” was published in the Journal of Medical Case Reports.
Researchers find no reports of skin nodules co-occurring with EDS
EDS is a group of genetic disorders that affect the connective tissues. People with EDS typically have smooth, velvety skin that stretches easily, forms scars, and bruises quickly.
Dermatofibromas are among the most common soft skin lesions. These fibrous growths can form after an injury or wound, but the mechanisms underlying their formation remain scarcely known. Among the factors that have been associated with dermatofibroma development is the use of medications that suppress the immune system.
To date, according to the researchers, there have been no reports of these skin nodules — which typically are purple or pink, but can sometimes appear brown or gray — in EDS patients.
In what the team said was the first such report, they detailed the case of a teenager who had developed multiple purple nodules on her leg after trauma and fracture of her left elbow. Otherwise, her health and growth had been normal.
The researchers, led by scientists at the Isfahan University of Medical Sciences, found that the dimple sign in these lesions was positive, meaning they remained indented when pressure was applied. An examination of a skin lesion sample under the microscope was suggestive of dermatofibromas.
Upon further examination, the doctors noticed that the patient’s fingers had an abnormal shape, and that her skin was fragile and stretched more than normal. Wide atrophic scars, which leave a sunken area on the skin, were seen in an arm.
Hypermobility in the joints was observed, particularly in the woman’s fingers. She had stretch marks above her knees and in the upper part of her legs. Small lumps with the same skin color were found in her heel, consistent with EDS.
Patient refused diagnostic testing, including genetic analysis
According to the patient, her EDS symptoms began during puberty, but without any heart, eye, skeletal, or digestive disorders that are commonly seen in people with this hypermobility disorder. No EDS family history was reported.
The woman had been diagnosed with asthma five years earlier, and had been treated for two years with an inhaled corticosteroid, a type of immunosuppressant. However, the team noted that she had stopped that therapy a year before the purple nodules appeared on her skin.
“Considering the lack of systemic [body-wide] effects and the 1-year gap, we believe the inhaled corticosteroid is unlikely to be a factor in the development of multiple dermatofibromas,” the investigators wrote. Also, “regarding the left elbow trauma and fracture, despite the initial suspicion, the different anatomical locations and the presence of multiple lesions make the association questionable.”
While a causal relationship between multiple dermatofibromas and EDS cannot be definitively established based on our single case observation, this unusual clinical presentation highlights the need for continued observation and reporting of such cases.
To rule out other disorders, the team referred the patient for heart and eye exams, but these were negative.
“The result of the echocardiography [heart imaging test] was normal, and no abnormalities in the eyes were observed,” the researchers reported.
Despite the findings, the patient declined further diagnostic testing, including genetic analysis. Based on the clinical examination alone, the team diagnosed her with EDS, with a high suspicion of classical Ehlers-Danlos syndrome as she met major diagnostic criteria — skin hyperextensibility, atrophic scars and joint hypermobility — and two minor criteria, specifically easy bruising and a fragile skin.
“While a causal relationship between multiple dermatofibromas and EDS cannot be definitively established based on our single case observation, this unusual clinical presentation highlights the need for continued observation and reporting of such cases,” the researchers concluded.
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