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

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.

journal_name

J Cutan Pathol

authors

Hipólito LN,Mendoza-Cembranos MD,Villaescusa MT,Jo-Velasco M,Requena L,Alegría-Landa V

doi

10.1111/cup.13483

subject

Has Abstract

pub_date

2019-08-01 00:00:00

pages

609-612

issue

8

eissn

0303-6987

issn

1600-0560

journal_volume

46

pub_type

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