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J Cutan Pathol. 2019 Apr 21. doi: 10.1111/cup.13483. [Epub ahead of print]

Langerhans cell histiocytosis and multiple reticulohistiocytomas in a patient with TAR syndrome: An association not previously described.

Author information

1
Department of Dermatology, Fundación Jiménez Díaz, Universidad Autónoma, Madrid, Spain.
2
Department of Hematology, Fundación Jiménez Díaz, Universidad Autónoma, Madrid, Spain.
3
Department of Pathology, Fundación Jiménez Díaz, Universidad Autónoma, Madrid, Spain.

Abstract

We describe a patient with thrombocytopenia-absent radius (TAR) syndrome, multisystemic Langerhans cell histiocytosis and multiple reticulohistiocytomas. A mutational study by massive sequencing identified the Val600Glu (V600E) BRAF mutation in the Langerhans cell histiocytosis lesions, but no molecular alterations were found in the reticulohistiocytoma lesions. The concomitant presence in the same patient of more than one type of histiocytosis from two different groups recognized in the most recent Histiocyte Society classification is an extremely rare event. Our case is the first reported case of multisystemic Langerhans cell histiocytosis and multiple reticulohistiocytomas in a patient with TAR syndrome.

PMID:
31006900
DOI:
10.1111/cup.13483

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