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Congenital self‐healing reticulohistiocytosis with BRAF V600E mutation in an infant
Author(s) -
Wu X.,
Huang J.,
Jiang L.,
Wu H.,
Cheng Y.,
Chen C.,
Xue H.
Publication year - 2019
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.13880
Subject(s) - medicine , langerhans cell histiocytosis , mutation , histiocytosis , somatic cell , pathology , dermatology , biology , disease , biochemistry , gene
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.