Congenital self‐healing reticulohistiocytosis with BRAF V600E mutation in an infant

Summary

Congenital self‐healing reticulohistiocytosis (CSHR) is a rare disorder characterized by benign skin lesions with a tendency to self‐heal. Multiple skin lesions are usually present in CSHR. It is very difficult to distinguish between CSHR and an invasive Langerhans cell histiocytosis. We present a case of a 5‐month‐old infant girl who had hypopigmented skin lesions distributed over her neck, thorax and torso. The skin lesions regressed spontaneously 2 months after the diagnosis of CSHR and the child has remained in complete remission without any sign of recurrence over a 2‐year follow‐up. BRAF V600E mutation was detected in lesional cells along with a low Ki‐67 proliferative activity of about 6%. BRAF oncogene‐induced senescence might contribute to a mechanism of self‐regression in CSHR; however, the exact role of the somatic BRAF V600E mutation in CSHR remains to be determined.

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