Eruptive dermatofibromas linked to down syndrome CutisJournal DermTwitter
The immune dysregulation reported in Down syndrome may explain the appearance of multiple dermatofibromas.Ammirati CT, Mann C, Hornstra IK. Multiple eruptive dermatofibromas in three men with HIV infection.Zaccaria E, Rebora A, Rongioletti F. Multiple eruptive dermatofibromas and immunosuppression: report of two cases and review of the literature.Int J DermatolMonteagudo B, Álvarez-Fernández JC, Iglesias B, et al.
A 38-year-old woman with DS, hidradenitis suppurativa, and hypothyroidism presented with multiple cutaneous lesions developing over the last year. The lesions continued to increase in number but were otherwise asymptomatic. Physical examination revealed approximately 20 rubbery, pink-tan papules measuring less than 1 cm in diameter that were scattered along the trunk , arms, and legs .
A and B, Numerous sclerotic papules consistent with dermatofibromas on the upper back and left leg, respectively. The patient had no known history of immunosuppression or rheumatologic disease and was otherwise healthy. Basic laboratory tests including a complete blood cell count and antinuclear antibody titer were within reference range. The lesions were clinically consistent with dermatofibromas, but due to their increasing number within a short period of time, a biopsy of a representative lesion was performed to confirm the diagnosis.
The exact incidence of MEDFs is unknown, but they are rare, with one review finding only 50 cases reported from 1960 to 2002.They are increasingly recognized as a sign of potential immune dysregulation. Approximately 56% to 70% of cases are seen in patients with an underlying disease state; 80% are immune mediated.with evidence suggesting that trisomy 21 may result in widespread changes in gene expression that can lead to interferon activation.
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